Search Results - "Worgan, L"

Contributors: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. -A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., Mcwalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., Maclennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.

Source: Am J Hum Genet
Am. J. Hum. Genet. 108, 2006-2016 (2021)

Subject Terms: AAA+ superfamily, ATPase, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing lo, SPATA5L1, ATPases Associated with Diverse Cellular Activitie, Adolescent, Adult, Allele, Animal, Child, Preschool, Female, Hearing Lo, Human, Infant, Infant, Newborn, Male, Muscle Spasticity, Rat, Young Adult, Genetic Predisposition to Disease, Genetic Variation, Report, Genetics (clinical), Genetics, Cerebral palsy, medicine.disease, medicine, Periventricular leukomalacia, Epilepsy, Sensorineural hearing loss, Pathology, medicine.medical_specialty, Hearing loss, medicine.symptom, Microcephaly, Neurodevelopmental disorder, White matter, medicine.anatomical_structure, Biology, Aaa+ Superfamily, Atpase, Spata5l1, Cerebral Palsy, Intellectual Disability, Movement Disorder, Neurodevelopmental Disorder, Sensorineural Hearing Loss

File Description: application/pdf

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1887f7ac3875dcbc64050199115f63ee
http://hdl.handle.net/11588/873451

7

Academic Journal

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.

Authors: Nishide M; Sydney Medical School, University of Sydney, Camperdown, NSW, 2050, Australia., Le Marquand K; Clinical Genetics Service, Royal Prince Alfred Hospital, Camperdown, NSW, 2050, Australia., Davis MR; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia., Halmágyi GM; Neurology Department, Royal Prince Alfred Hospital, Camperdown and the University of Sydney, Sydney, NSW, 2050, Australia., Fellner A; Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, 4941492, Petah Tikva, Israel.; Department of Neurology, Rabin Medical Center, Beilinson Hospital, 4941492, Petah Tikva, Israel., Narayanan RK; Sydney Medical School, University of Sydney, Camperdown, NSW, 2050, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, 2139, Australia., Kennerson ML; Sydney Medical School, University of Sydney, Camperdown, NSW, 2050, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, 2139, Australia., Reddel SW; Department of Neurology, Concord Repatriation General Hospital, Concord, NSW, 2139, Australia., Worgan L; Clinical Genetics Service, Royal Prince Alfred Hospital, Camperdown, NSW, 2050, Australia., Panegyres PK; Neurodegenerative Disorders Research Pty Ltd, West Perth, WA, 6005, Australia.; School of Medicine, The University of Western Australia, Nedlands, WA, 6008, Australia., Kumar KR; Sydney Medical School, University of Sydney, Camperdown, NSW, 2050, Australia. kkum4618@uni.sydney.edu.au.; Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia. kkum4618@uni.sydney.edu.au.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, 2139, Australia. kkum4618@uni.sydney.edu.au.; Department of Neurology, Concord Repatriation General Hospital, Concord, NSW, 2139, Australia. kkum4618@uni.sydney.edu.au.

Source: Cerebellum (London, England) [Cerebellum] 2023 Jan 25. Date of Electronic Publication: 2023 Jan 25.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

8

Academic Journal

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Authors: Ewans LJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. lisa.ewans@gmail.com., Minoche AE; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Shrestha R; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Puttick C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Zhu Y; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Drew A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Elakis G; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Walsh C; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Adès LC; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Colley A; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Ellaway C; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Evans CA; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia., Freckmann ML; Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia., Goodwin L; Genetics Services, Nepean Hospital, Sydney, NSW, Australia., Hackett A; The Genetics of Learning Disability Service, Newcastle, NSW, Australia., Kamien B; Hunter Genetics, Newcastle, NSW, Australia., Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Lipke M; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Queensland Children's Hospital, Brisbane, QLD, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Palmer E; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Rajagopalan S; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Ronan A; Hunter Genetics, Newcastle, NSW, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Stevenson W; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Worgan L; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Morel-Kopp MC; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia., Field M; The Genetics of Learning Disability Service, Newcastle, NSW, Australia., Buckley MF; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Cowley MJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Dinger ME; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.dinger@unsw.edu.au.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia. m.dinger@unsw.edu.au., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia. tony.roscioli@health.nsw.gov.au.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Oct; Vol. 30 (10), pp. 1121-1131. Date of Electronic Publication: 2022 Aug 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

MeSH Terms: Exome*, Base Sequence ; Chromosome Mapping ; Humans ; Exome Sequencing ; Whole Genome Sequencing

9

Academic Journal

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.

Authors: Yuen M; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia. michaela.yuen@sydney.edu.au.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Camperdown, NSW, Australia. michaela.yuen@sydney.edu.au., Worgan L; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia., Iwanski J; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ, USA., Pappas CT; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ, USA., Joshi H; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia., Churko JM; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ, USA., Arbuckle S; Department of Histopathology, The Children's Hospital at Westmead, Westmead, NSW, Australia., Kirk EP; New South Wales Health Pathology, Randwick Genomics Laboratory, Randwick, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia., Zhu Y; New South Wales Health Pathology, Randwick Genomics Laboratory, Randwick, NSW, Australia., Roscioli T; New South Wales Health Pathology, Randwick Genomics Laboratory, Randwick, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, NSW, Australia., Gregorio CC; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ, USA., Cooper ST; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Camperdown, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Apr; Vol. 30 (4), pp. 450-457. Date of Electronic Publication: 2022 Jan 26.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

MeSH Terms: Cardiomyopathy, Dilated*/genetics , Heart Failure*/genetics , Heart Failure*/metabolism, Actin Cytoskeleton/genetics ; Actin Cytoskeleton/metabolism ; HEK293 Cells ; Homozygote ; Humans ; Infant, Newborn

10

Academic Journal

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Authors: Richard EM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA., Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Marsh APL; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Kaiyrzhanov R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Shetty S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane, QLD 4029, Australia., Nordlie SM; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Guida BS; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Mayo Clinic, Scottsdale, AZ 85259, USA., Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Norton BY; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Webster RI; Neurology Department, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia., Worgan L; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW 2050, Australia., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li J; Department of Computer Science, City University of Hong Kong, Kowloon 999077, Hong Kong., Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Jain M; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Blesson A; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD 21211, USA., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Abbott MA; University of Massachusetts Medical School - Baystate, Baystate Children's Hospital, Springfield, MA 01107, USA., Comi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Lenz D; Centre of Child and Adolescent Medicine, Department of Pediatric Neurology and Metabolic Medicine, Heidelberg University Hospital, 69120 Heidelberg, Germany., Ziegler A; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Kotzaeridou U; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Chassevent A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, New York, NY 11211, USA., Weiden T; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem 9054020, Israel., Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, 35392 Giessen, Germany., Zharkinbekova N; Department of Neurology, South Kazakhstan Medical Academy, Shymkent 160001, Kazakhstan., Turnpenny P; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, EX1 2ED Exeter, UK., Tucci A; Clinical Pharmacology, William Harvey Research Institute, Charterhouse Square, School of Medicine and Dentistry Queen Mary University of London, London EC1M 6BQ, UK., Yelton M; Penn State Health Children's Hospital, Hershey, PA 17033, USA., Horvath R; Department of Clinical Neurosciences, John Van Geest Cambridge Centre for Brain Repair, University of Cambridge School of Clinical Medicine, CB2 0PY Cambridge, UK., Gungor S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Paediatric Neurology, 44280 Malatya, Turkey., Hiz S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, 35340 Izmir, Turkey; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey., Oktay Y; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, 35340 Izmir, Turkey; Department of Medical Biology, Faculty of Medicine, Dokuz Eylul University, 35220 Izmir, Turkey., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Zollino M; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy., Morleo M; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy., Marangi G; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy., Nigro V; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' 80138 Naples, Italy., Torella A; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' 80138 Naples, Italy., Pinelli M; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy., Amenta S; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy., Husain RA; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany., Grossmann B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany., Rapp M; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany., Steen C; Department of Paediatric and Adolescent Medicine, St Joseph Hospital, 12101 Berlin, Germany., Marquardt I; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, 26133 Oldenburg, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany., Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, 26133 Oldenburg, Germany., Owczarek-Lipska M; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany; Junior Research Group, Genetics of Childhood Brain Malformations, Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany., Neidhardt J; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany; Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Mancini C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Claps Sepulveda DJ; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Schnur RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Mancardi MM; Unit of Child Neuropsichiatry, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genoa 16147, Italy., Kreuder F; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3168, Australia., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRRCS Istituto Giannina Gaslini, 16148 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy; Unit of Medical Genetics, IRRCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA., Marks WA; Department of Neurology, Cook Children's Medical Center, Fort Worth, TX 76104, USA; Department of Pediatrics, University of North Texas Health Science Center, Fort Worth, TX 76107, USA., van Eyk CL; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Webber DL; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Corbett MA; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Harper K; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Berry JG; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia., MacLennan AH; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Salpietro V; Pediatric Neurology and Muscular Diseases Unit, IRRCS Istituto Giannina Gaslini, 16148 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW 2006, Australia., Kaslin J; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3168, Australia., Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Bilguvar K; Yale Center for Genome Analysis, Yale University, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Munchau A; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany., Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Fahey MC; Department of Paediatrics, Monash University, Melbourne, VIC 3168, Australia., Maroofian R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK., Houlden H; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Mane SM; Yale Center for Genome Analysis, Yale University, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Rad A; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076 Tübingen, Germany., Vona B; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076 Tübingen, Germany., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany; Centre for Rare Diseases, University of Tübingen, 72074 Tuebingen, Germany., Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, Munich Clinic, Schwabing Hospital and Technical University of Munich, School of Medicine, 80804 Munich, Germany., Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, New York, NY 11211, USA., Riazuddin S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA. Electronic address: sriazuddin@som.umaryland.edu., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA. Electronic address: kruerm@arizona.edu.

Source: American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 2006-2016.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

11

Academic Journal

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Authors: Cheng H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Capponi S; German Cancer Consortium (DKTK), partner site Freiburg, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, Heidelberg, Germany.; Department of Urology, Medical Faculty-University of Freiburg, Breisacher Str. 66, Freiburg, Germany., Wakeling E; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Harrow, UK., Marchi E; Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA., Li Q; Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, Ontario, Canada., Zhao M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Weng C; Department of Biomedical Informatics, Columbia University Medical Center, New York, NY, USA., Stefan PG; Great Ormond Street Hospital, Great Ormond Street, London, UK., Ahlfors H; Great Ormond Street Hospital, Great Ormond Street, London, UK., Kleyner R; Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, NY, USA., Rope A; Kaiser Permanente Center for Health Research, Portland, OR, USA.; Genome Medical, South San Francisco, CA, USA., Lumaka A; Department of Biomedical and Preclinical Sciences, GIGA-R, Laboratory of Human Genetics, University of Liège, Liège, Belgium.; Institut National de Recherche Biomédicale, Kinshasa, DR, Congo.; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, DR, Congo., Lukusa P; Institut National de Recherche Biomédicale, Kinshasa, DR, Congo.; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, DR, Congo.; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium., Devriendt K; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium., Vermeesch J; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Palmer EE; Genetics of Learning Disability Service, Newcastle, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia., Murray L; Genetics of Learning Disability Service, Newcastle, NSW, Australia., Leon E; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA., Diaz J; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA., Worgan L; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia., Mallawaarachchi A; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia., Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., de Munnik SA; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands., Dreyer L; Genetic Services of Western Australia, Undiagnosed Diseases Program, Perth, Western Australia, Australia., Baynam G; Genetic Services of Western Australia, Undiagnosed Diseases Program, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.; Telethon Kids Institute, Perth, Western Australia, Australia.; University of Western Australia, School of Medicine, Division of Paediatrics, Perth, Western Australia, Australia., Ewans L; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia., Gonçalves AR; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal., Soares G; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal., Oliveira J; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal.; unIGENe, and Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Institute of Health Research and Innovation (i3S), University of Porto, Porto, Portugal., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MI, USA., Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MI, USA., Waugh JL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Division of Pediatric Neurology, University of Texas Southwestern, Dallas, TX, USA., Faivre L; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France., Riviere JB; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France., Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.; Reference Center for Developmental Anomalies, Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France., Mohammed S; Clinical Genetics, Guy's Hospital, Great Maze Pond, London, UK., Payne K; Indiana University School of Medicine, Department of Neurology, Indianapolis, IN., Walsh L; Indiana University School of Medicine, Department of Neurology, Indianapolis, IN., Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Douglas G; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Alexander N; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Buckley MF; New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick, Australia., Mark PR; Spectrum Health Division of Medical and Molecular Genetics, Grand Rapids, MI, USA., Adès LC; Department of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.; Department of Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Sandaradura SA; Department of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.; Department of Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick, Australia.; Neuroscience Research Australia, University of New South Wales, Sydney, Australia., Agrawal PB; Divisions of Newborn Medicine and Genetics & Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA., Wang K; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Timmers HTM; German Cancer Consortium (DKTK), partner site Freiburg, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, Heidelberg, Germany.; Department of Urology, Medical Faculty-University of Freiburg, Breisacher Str. 66, Freiburg, Germany., Lyon GJ; Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA.; Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, NY, USA.; Biology PhD Program, The Graduate Center, The City University of New York, NY, USA.

Corporate Authors: Deciphering Developmental Disorders Study; Wellcome Trust Sanger Institute, Cambridgeshire, UK.

Source: Human mutation [Hum Mutat] 2019 Oct 23. Date of Electronic Publication: 2019 Oct 23.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

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12

Academic Journal

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Authors: Gold WA; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland., Wiame E; Welbio and de Duve Institute, Université Catholique de Louvain, Brussels, Belgium., Marbaix A; Welbio and de Duve Institute, Université Catholique de Louvain, Brussels, Belgium., Van Schaftingen E; Welbio and de Duve Institute, Université Catholique de Louvain, Brussels, Belgium., Franzka P; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Riley LG; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Worgan L; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia., Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Christodoulou J; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Australia., Adès LC; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Aug; Vol. 173 (8), pp. 2246-2250. Date of Electronic Publication: 2017 Jun 02.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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Academic Journal

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Authors: Davids M; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Menezes M; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child and Adolescent Health and Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia., Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McLean SD; Department of Clinical Genetics, The Children's Hospital of San Antonio, San Antonio, TX, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Collins F; Discipline of Child and Adolescent Health and Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia; Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, Australia., Worgan L; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia., Billington CJ Jr; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Maric I; Hematology Service, Clinical Center, NIH, Bethesda, MD, USA., Littlejohn RO; Department of Clinical Genetics, The Children's Hospital of San Antonio, San Antonio, TX, USA., Onyekweli T; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Members Of The Udn; Undiagnosed Diseases Network, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Adams DR; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tifft CJ; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Christodoulou J; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child and Adolescent Health and Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Pediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia. Electronic address: john.christodoulou@mcri.edu.au., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: malicdanm@mail.nih.gov.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2020 May; Vol. 130 (1), pp. 49-57. Date of Electronic Publication: 2020 Feb 10.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH Terms: Abnormalities, Multiple/*genetics , Carrier Proteins/*genetics , Carrier Proteins/*metabolism , Developmental Disabilities/*genetics , Epilepsy/*genetics , Glycosylphosphatidylinositols/*deficiency , Intellectual Disability/*genetics , Membrane Proteins/*genetics , Membrane Proteins/*metabolism, Abnormalities, Multiple/physiopathology ; Adolescent ; Alternative Splicing/genetics ; Child, Preschool ; Developmental Disabilities/physiopathology ; Epilepsy/physiopathology ; Female ; Fibroblasts/metabolism ; GPI-Linked Proteins/metabolism ; Glycosylphosphatidylinositols/biosynthesis ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Neutrophils/metabolism ; Pedigree ; Exome Sequencing

14

Academic Journal

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

Authors: Josephi-Taylor S; Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, Sydney, NSW, 2031, Australia.; School of Women's and Children's Health, UNSW Medicine, Sydney, NSW, 2052, Australia., Barlow-Stewart K; Northern Clinical School, Faculty of Medicine and Health, Kolling Institute Level 7, Sydney Medical School Northern, University of Sydney Royal North Shore Hospital, University of Sydney, St. Leonards, Sydney, NSW, 2065, Australia., Selvanathan A; Clinical Genetics Services SWSLHD, Liverpool Hospital, Liverpool, NSW, 2170, Australia., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, Sydney, NSW, 2031, Australia., Bittles A; School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA, 6027, Australia., Meiser B; Prince of Wales Clinical School, Faculty of Medicine, UNSW, Sydney, NSW, 2052, Australia., Worgan L; Clinical Genetics Services SWSLHD, Liverpool Hospital, Liverpool, NSW, 2170, Australia., Rajagopalan S; Clinical Genetics Services SWSLHD, Liverpool Hospital, Liverpool, NSW, 2170, Australia., Colley A; Clinical Genetics Services SWSLHD, Liverpool Hospital, Liverpool, NSW, 2170, Australia., Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, Sydney, NSW, 2031, Australia.; School of Women's and Children's Health, UNSW Medicine, Sydney, NSW, 2052, Australia.; Genetics Laboratory, NSW Health Pathology East, Randwick, Sydney, NSW, 2031, Australia.

Source: Journal of genetic counseling [J Genet Couns] 2019 Apr; Vol. 28 (2), pp. 240-250. Date of Electronic Publication: 2018 Dec 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

MeSH Terms: Consanguinity* , Genetic Carrier Screening* , Exome Sequencing*, Adult ; Australia ; Child ; Family ; Female ; Genetic Testing/methods ; Humans ; Male ; Pregnancy ; Reproducibility of Results

15

Academic Journal

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".

Authors: Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia. Edwin.kirk@health.nsw.gov.au.; Genetics Laboratory, NSW Health Pathology East, Sydney, New South Wales, Australia. Edwin.kirk@health.nsw.gov.au.; School of Women's and Children's Health, UNSW Medicine, Sydney, New South Wales, Australia. Edwin.kirk@health.nsw.gov.au., Barlow-Stewart K; Sydney Medical School Northern, University of Sydney, Royal North Shore Hospital, Sydney, New South Wales, Australia., Selvanathan A; Clinical Genetics Services SWSLHD, Liverpool Hospital, Sydney, New South Wales, Australia., Josephi-Taylor S; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, UNSW Medicine, Sydney, New South Wales, Australia., Worgan L; Clinical Genetics Services SWSLHD, Liverpool Hospital, Sydney, New South Wales, Australia., Rajagopalan S; Clinical Genetics Services SWSLHD, Liverpool Hospital, Sydney, New South Wales, Australia., Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Bittles A; School of Medical and Health Sciences, Edith Cowan University, Perth, Western Australia, Australia., Burnett L; Genome.One, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Elakis G; Genetics Laboratory, NSW Health Pathology East, Sydney, New South Wales, Australia., Lo W; Genetics Laboratory, NSW Health Pathology East, Sydney, New South Wales, Australia., Buckley M; Genetics Laboratory, NSW Health Pathology East, Sydney, New South Wales, Australia., Colley A; Clinical Genetics Services SWSLHD, Liverpool Hospital, Sydney, New South Wales, Australia., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Genetics Laboratory, NSW Health Pathology East, Sydney, New South Wales, Australia.; Neuroscience Research Australia, Sydney, New South Wales, Australia.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 608-612. Date of Electronic Publication: 2018 Jul 02.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

MeSH Terms: Genetic Testing/*methods , Sequence Analysis, DNA/*methods , Exome Sequencing/*methods, Adult ; Base Sequence ; Consanguinity ; Exome ; Family ; Female ; Genes, Recessive/genetics ; Genes, X-Linked/genetics ; Genetic Testing/ethics ; Humans ; Male ; Pedigree ; Proof of Concept Study

16

Academic Journal

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

Authors: Ewans LJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia. l.ewans@garvan.org.au.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia. l.ewans@garvan.org.au., Schofield D; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Faculty of Pharmacy, Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Shrestha R; Faculty of Pharmacy, Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia., Zhu Y; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia.; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Ying K; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Walsh C; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Lee E; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Kirk EP; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Colley A; Clinical Genetics Department, Liverpool Hospital, Liverpool, New South Wales, Australia., Ellaway C; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, New South Wales, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Worgan L; Clinical Genetics Department, Liverpool Hospital, Liverpool, New South Wales, Australia., Freckmann ML; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Lipke M; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Miller D; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Field M; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia., Dinger ME; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Buckley MF; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Cowley MJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Roscioli T; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; NeuRA and Prince of Wales Clinical School, University of New South Wales, Kensington, Australia, New South Wales.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1564-1574. Date of Electronic Publication: 2018 Mar 29.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

17

Academic Journal

PIK3CA -associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Authors: Mirzaa G; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research and., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA., Conti V; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Boyle EA; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Martin B; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Kircher M; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Olds C; Center for Integrative Brain Research and., Juusola J; Whole Exome Sequencing Program, GeneDx, Gaithersburg, Maryland, USA., Collins S; Center for Integrative Brain Research and., Park K; Center for Integrative Brain Research and., Carter M; Regional Genetics Program, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Glass I; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research and., Krägeloh-Mann I; Department of Pediatrics, and Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany., Chitayat D; Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Division, Department of Obstetrics and Gynecology, and.; Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada., Parikh AS; Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA., Bradshaw R; Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA., Torti E; Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA., Braddock S; Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA., Burke L; Department of Pediatrics, University of Vermont College of Medicine, Burlington, Vermont, USA., Ghedia S; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Stephan M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Stewart F; Belfast Health and Social Care Trust, Belfast, United Kingdom., Prasad C; Genetics, Metabolism and Pediatrics, London, Ontario, Canada., Napier M; Genetics, Metabolism and Pediatrics, London, Ontario, Canada., Saitta S; Clinical Genetics, Center for Personalized Medicine, Children's Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California, USA., Straussberg R; Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Gabbett M; School of Medicine, Griffith University, Brisbane, Queensland, Australia., O'Connor BC; Division of Genetics, Department of Pediatrics, and.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Keegan CE; Division of Genetics, Department of Pediatrics, and.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Yin LJ; Genetics Service, Department of Pediatric Medicine, KK Women's and Children's Hospital, Singapore., Lai AHM; Genetics Service, Department of Pediatric Medicine, KK Women's and Children's Hospital, Singapore., Martin N; Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada., McKinnon M; British Columbia Medical Genetics Provincial Program, University of British Columbia, Vancouver, British Columbia, Canada., Addor MC; Service de génétique médicale, Centre Hospitalier Universitaire Vaudois CHUV, Switzerland., Boccuto L; Greenwood Genetic Center, Greenwood, South Carolina, USA., Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lanoel A; Department of Dermatology, Children Hospital Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina., Conway RL; Children's Hospital of Michigan, Wayne State University, Detroit, Michigan, USA., Devriendt K; Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium., Tatton-Brown K; South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, and Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom., Pierpont ME; Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota, USA., Painter M; Department of Child Neurology, University of Florida, Jacksonville, Florida, USA., Worgan L; Department of Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Reggin J; Department of Neurology, University of Washington, Seattle, Washington, USA.; Providence Child Neurology, Providence Sacred Heart Medical Center and Children's Hospital, Spokane, Washington, USA., Hennekam R; Department of Pediatrics and Translational Genetics, Department of Pediatrics, Academic Medical Center, University of Amsterdam Medical Center, Amsterdam, The Netherlands., Tsuchiya K; Department of Laboratories, Seattle Children's Hospital and.; Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA., Pritchard CC; Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA., Aracena M; División de Pediatría, Pontificia Universidad Católica de Chile, Pediatra-Genetista, Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago, Chile., Gripp KW; Department of Pediatrics, Sidney Kimmel Medical School at T. Jefferson University, Chief of Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, USA., Cordisco M; Departments of Dermatology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Garavelli L; Clinical Genetics Unit, IRCCS Santa Maria Nuova Hospital, Reggio Emilia, Italy., Curry C; University of California, San Francisco, San Francisco/Genetic Medicine Central California, San Francisco, California, USA., Goriely A; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Kayserilli H; Koç University, School of Medicine, Medical Genetics Department, Koç University Hospital, Istanbul, Turkey., Shendure J; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Howard Hughes Medical Institute, Seattle, Washington, USA., Graham J Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California, USA., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Dobyns WB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research and.; Department of Neurology, University of Washington, Seattle, Washington, USA.

Source: JCI insight [JCI Insight] 2016 Jun 16; Vol. 1 (9).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Print Cited Medium: Print ISSN: 2379-3708 (Print) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

MeSH Terms: Mosaicism*, Class I Phosphatidylinositol 3-Kinases/*genetics , Malformations of Cortical Development/*genetics , Vascular Malformations/*genetics, Female ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Mutation ; Phenotype ; Tissue Distribution

18

Academic Journal

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

Authors: Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Caputo V; Dipartimento di Medicina Sperimentale, Università La Sapienza, 00161 Rome, Italy., Phelps IG; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Stella L; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, 00133 Rome, Italy., Worgan L; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW 2170, Australia., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Nguyen A; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Leuzzi V; Dipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italy., Webster R; T.Y. Nelson Department of Neurology and Neurosurgery and Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia., Pizzuti A; Dipartimento di Medicina Sperimentale, Università La Sapienza, 00161 Rome, Italy., Marvin CT; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Ishak GE; Department of Radiology, University of Washington, Seattle, WA 98195, USA., Ardern-Holmes S; T.Y. Nelson Department of Neurology and Neurosurgery and Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia., Richmond Z; Department of Genomic Medicine, Royal Prince Alfred Hospital, Missenden Road, Camperdown, Sydney NSW 2050, Australia., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Ortiz-Gonzalez XR; Division of Neurology, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Tartaglia M; Area di Ricerca 'Genetica e Malattie Rare,' Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Chopra M; Department of Genomic Medicine, Royal Prince Alfred Hospital, Missenden Road, Camperdown, Sydney NSW 2050, Australia; Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia; Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, West Gaoke Road, Pudong, Shanghai 200040, China., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: ddoher@uw.edu.

Corporate Authors: University of Washington Center for Mendelian Genomics

Source: American journal of human genetics [Am J Hum Genet] 2016 Apr 07; Vol. 98 (4), pp. 772-81. Date of Electronic Publication: 2016 Mar 31.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

19

Academic Journal

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Authors: Slaats GG; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Isabella CR; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Gremmels H; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Monroe GR; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Phelps IG; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Duran KJ; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Adkins J; Department of Pediatrics, University of Washington, Seattle, Washington, USA Division of Integrated Cancer Genomics, Translational Genomics Research Institute, Phoenix, Arizona, USA., Kumar SA; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Knutzen DM; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Knoers NV; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mendelsohn NJ; Department of Medical Genetics, Children's Hospitals & Clinics of Minnesota, Minneapolis, Minnesota, USA., Neubauer D; Department of Child, Adolescent and Developmental Neurology, University Children's Hospital Ljubljana, Ljubljana, Slovenia., Mastroyianni SD; Department of Neurology, Children's Hospital of Athens 'P. and A. Kyriakou', Athens, Greece., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK., Worgan L; Department of Clinical Genetics, Liverpool Hospital, Liverpool, Australia., Karp N; Medical Genetics Program, Department of Pediatrics, London Health Science Centre, University of Western Ontario, London, Ontario, Canada., Bowdin S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada., Glass IA; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Otto EA; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA., Johnson CA; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, UK., Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA Howard Hughes Medical Institute, Chevy Chase, Maryland, USA., van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, USA Seattle Children's Research Institute, Seattle, Washington, USA.

Source: Journal of medical genetics [J Med Genet] 2016 Jan; Vol. 53 (1), pp. 62-72. Date of Electronic Publication: 2015 Oct 21.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

MeSH Terms: Abnormalities, Multiple/*genetics , Abnormalities, Multiple/*metabolism , Cerebellum/*abnormalities , Cilia/*genetics , Cilia/*metabolism , Eye Abnormalities/*genetics , Eye Abnormalities/*metabolism , Kidney Diseases, Cystic/*genetics , Kidney Diseases, Cystic/*metabolism , Phosphoric Monoester Hydrolases/*metabolism , Proteins/*genetics , Proteins/*metabolism , Retina/*abnormalities, ADP-Ribosylation Factors/metabolism ; Abnormalities, Multiple/diagnosis ; Animals ; Brain/pathology ; Cells, Cultured ; Cerebellum/metabolism ; Cilia/pathology ; Exons ; Eye Abnormalities/diagnosis ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Gene Expression Regulation ; Humans ; Kidney Diseases, Cystic/diagnosis ; Magnetic Resonance Imaging ; Mice ; Models, Biological ; Mutation ; Protein Binding ; Protein Transport ; Retina/metabolism ; Tomography, X-Ray Computed

SCR Disease Name: Agenesis of Cerebellar Vermis

20

Academic Journal

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Authors: Tuppen HA; Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne, UK., Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW

Source: Brain : a journal of neurology [Brain] 2010 Oct; Vol. 133 (10), pp. 2952-63. Date of Electronic Publication: 2010 Sep 06.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

MeSH Terms: Leigh Disease/*genetics , Mitochondria/*genetics , Mutation/*genetics , NADH Dehydrogenase/*genetics, Electrophoresis, Polyacrylamide Gel ; Female ; Haplotypes ; Humans ; Infant ; Male ; Mitochondrial Proteins/genetics ; Polymerase Chain Reaction

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