Authors: Xu HH; Prenatal Diagnosis Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. hui739@163.com.; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. hui739@163.com., Zhang Y; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China., He ZH; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China., Di XH; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China., Pan FY; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China., Shi WW; Prenatal Diagnosis Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. shiww@enzemed.com.; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. shiww@enzemed.com.

Source: BMC medical genomics [BMC Med Genomics] 2023 May 22; Vol. 16 (1), pp. 111. Date of Electronic Publication: 2023 May 22.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Authors: Fan J; Department of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA, 90095, USA., Senaratne TN; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, University of California, Los Angeles, USA., Liu JY; Department of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA, 90095, USA., Bina M; Department of Human Genetics, Sarah Lawrence College, Bronxville, USA., Martinez-Agosto JA; Departments of Human Genetics, Pediatrics and Psychiatry, University of California, Los Angeles, USA., Quintero-Rivera F; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, University of California, Los Angeles, USA., Wang JJ; Department of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA, 90095, USA. jessicawang@mednet.ucla.edu.

Source: BMC medical genomics [BMC Med Genomics] 2023 Mar 29; Vol. 16 (1), pp. 65. Date of Electronic Publication: 2023 Mar 29.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Authors: Garribba L; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy., De Feudis G; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy., Martis V; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy., Galli M; IFOM ETS - The AIRC Institute of Molecular Oncology, via Adamello 16, 20139, Milan, Italy., Dumont M; Institut Curie, PSL Research University, CNRS, UMR144, Paris, France., Eliezer Y; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Wardenaar R; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands., Ippolito MR; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy., Iyer DR; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, 364 Plantation Street, Worcester, MA, 01605, USA., Tijhuis AE; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands., Spierings DCJ; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands., Schubert M; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands., Taglietti S; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy., Soriani C; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy., Gemble S; Institut Curie, PSL Research University, CNRS, UMR144, Paris, France., Basto R; Institut Curie, PSL Research University, CNRS, UMR144, Paris, France., Rhind N; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, 364 Plantation Street, Worcester, MA, 01605, USA., Foijer F; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands., Ben-David U; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Fachinetti D; Institut Curie, PSL Research University, CNRS, UMR144, Paris, France., Doksani Y; IFOM ETS - The AIRC Institute of Molecular Oncology, via Adamello 16, 20139, Milan, Italy., Santaguida S; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy. stefano.santaguida@ieo.it.; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9/1, 20122, Milan, Italy. stefano.santaguida@ieo.it.

Source: Nature communications [Nat Commun] 2023 Mar 11; Vol. 14 (1), pp. 1353. Date of Electronic Publication: 2023 Mar 11.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Authors: Martin K; Natera Inc., Austin, TX., Dar P; Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY., MacPherson C; The Biostatistics Center, George Washington University, Washington, DC., Egbert M; Natera Inc., Austin, TX., Demko Z; Natera Inc., Austin, TX., Parmar S; Natera Inc., Austin, TX., Hashimoto K; Natera Inc., Austin, TX., Haeri S; Ouma Health, Park City, UT., Malone F; Rotunda Hospital, Royal College of Surgeons in Ireland, Department of Obstetrics and Gynecology, Dublin, Ireland., Wapner RJ; Columbia Presbyterian Medical Center, Department of Obstetrics and Gynecology, New York, NY., Roman AS; New York University Langone, Department of Obstetrics and Gynecology, New York, NY., Khalil A; St. George's Hospital, University of London, Department of Obstetrics and Gynecology, London, United Kingdom., Faro R; St. Peter's University Hospital, Department of Obstetrics and Gynecology, New Brunswick, NJ., Madankumar R; Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Department of Obstetrics and Gynecology, New Hyde Park, NY., Strong N; Icahn School of Medicine at Mount Sinai, Department of Obstetrics and Gynecology, New York, NY., Silver RM; University of Utah, Department of Obstetrics and Gynecology, Salt Lake City, UT., Vohra N; North Shore University Hospital, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Department of Obstetrics and Gynecology, Manhasset, NY., Hyett J; Western Sydney University, Department of Obstetrics and Gynaecology, Liverpool, NSW, Australia., Rabinowitz M; Natera Inc., Austin, TX., Kao C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Jacobsson B; Department of Obstetrics and Gynecology, Sahlgrenska University Hospital, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Obstetrics and Gynecology, Sahlgrenska University Hospital, Gothenburg, Sweden., Norton ME; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, CA. Electronic address: nortonm@obgyn.ucsf.edu.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100879. Date of Electronic Publication: 2023 May 05.

Publication Type: Multicenter Study; 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: Noninvasive Prenatal Testing* , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics , Turner Syndrome* , Cell-Free Nucleic Acids*/genetics, Pregnancy ; Female ; Humans ; Trisomy/diagnosis ; Trisomy/genetics ; Prospective Studies ; Sex Chromosome Aberrations ; Aneuploidy ; Sex Chromosomes/genetics ; Prenatal Diagnosis/methods

Authors: Zhang Q; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Wang Y; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Xu Y; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Zhou R; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Huang M; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Qiao F; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Meng L; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Liu A; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Zhou J; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Li L; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Ji X; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Xu Z; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Hu P; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.

Source: Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2023 Aug; Vol. 102 (8), pp. 1053-1062. Date of Electronic Publication: 2023 Jun 27.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 0370343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0412 (Electronic) Linking ISSN: 00016349 NLM ISO Abbreviation: Acta Obstet Gynecol Scand Subsets: MEDLINE

MeSH Terms: Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics, Pregnancy ; Female ; Humans ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Retrospective Studies ; Chromosome Aberrations ; Prenatal Diagnosis/methods ; Chromosome Mapping

Corporate Authors: Prenatal Screening and Diagnosis Group, Birth Defect Prevention and Control Professional Committee

Source: Zhonghua fu chan ke za zhi [Zhonghua Fu Chan Ke Za Zhi] 2023 Aug 25; Vol. 58 (8), pp. 565-575.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 16210370R Publication Model: Print Cited Medium: Print ISSN: 0529-567X (Print) Linking ISSN: 0529567X NLM ISO Abbreviation: Zhonghua Fu Chan Ke Za Zhi Subsets: MEDLINE

MeSH Terms: Chromosome Aberrations* , Fetal Diseases*/diagnosis , Fetal Diseases*/genetics , Genetic Counseling* , Prenatal Diagnosis*, Female ; Humans ; Pregnancy ; Asian People ; Chromosome Deletion ; Chromosome Duplication/genetics ; DNA Copy Number Variations/genetics ; Microarray Analysis ; Prenatal Care ; Practice Guidelines as Topic

Authors: Liu Y; Molecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Postzone S-5-P, 2333 ZC, Leiden, The Netherlands., Sinke L; Molecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Postzone S-5-P, 2333 ZC, Leiden, The Netherlands., Jonkman TH; Molecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Postzone S-5-P, 2333 ZC, Leiden, The Netherlands., Slieker RC; Department of Cell and Chemical Biology, Leiden University Medical Center, 2333 ZC, Leiden, The Netherlands., van Zwet EW; Medical Statistics, Department of Biomedical Data Sciences, Leiden University Medical Center, 2333 ZC, Leiden, The Netherlands., Daxinger L; Department of Human Genetics, Leiden University Medical Center, 2333 ZC, Leiden, The Netherlands., Heijmans BT; Molecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Postzone S-5-P, 2333 ZC, Leiden, The Netherlands. b.t.heijmans@lumc.nl.

Corporate Authors: BIOS Consortium

Source: Clinical epigenetics [Clin Epigenetics] 2023 Aug 25; Vol. 15 (1), pp. 135. Date of Electronic Publication: 2023 Aug 25.

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

Journal Info: Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE

MeSH Terms: DNA Methylation* , X Chromosome*, Male ; Female ; Humans ; X Chromosome Inactivation ; Aging/genetics ; Epigenesis, Genetic

Authors: Wei Y; Medical Genetics and Prenatal Screening Department, Maternity and Child Health Care Hospital of Zaozhuang, Zaozhuang, Shandong 277100, China. meixiaming@163.com., Wang R, Xi M, Wei L, Zhu W, Liu Y

Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Aug 10; Vol. 40 (8), pp. 933-938.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

MeSH Terms: Cell-Free Nucleic Acids* , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics , Down Syndrome*/diagnosis , Down Syndrome*/genetics, Child ; Female ; Pregnancy ; Humans ; Retrospective Studies ; Prenatal Diagnosis/methods ; Sex Chromosome Aberrations ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics ; Trisomy 13 Syndrome/diagnosis ; Aneuploidy ; DNA/genetics ; Trisomy/diagnosis ; Trisomy/genetics

Authors: Shi P; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net., Zhu R, Zhao J, Kong X

Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Aug 10; Vol. 40 (8), pp. 954-959.

Publication Type: Review; English Abstract; Journal Article

Journal Info: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

MeSH Terms: Mosaicism* , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics, Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Chromosome Aberrations ; Karyotyping ; Prenatal Diagnosis/methods

Authors: Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Sahin M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Berry-Kravis E; Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.; Department of Biochemistry, Rush University Medical Center, Chicago, Illinois, USA., Soorya LV; Department of Psychiatry and Behavioral Sciences, Rush University Medical Center, Chicago, Illinois, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Asante-Otoo A; Rehabilitation Medicine Department, NIH Clinical Center, Bethesda, Maryland, USA., Bennett WE Jr; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Betancur C; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France., Brickhouse TH; Department of Dental Public Health & Policy, School of Dentistry, Virginia Commonwealth University, Richmond, Virginia, USA., Passos Bueno MR; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Chopra M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Christensen CK; Division of Developmental Medicine, Department of Pediatrics, Riley Children's Health, Indianapolis, Indiana, USA.; Division of Child Neurology, Department of Neurology, Riley Children's Health, Indianapolis, Indiana, USA., Cully JL; Department of Pediatrics, College of Medicine and Division of Dentistry and Orthodontics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Dies K; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Friedman K; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Gummere B; Indiana University, Indianapolis, Indiana, USA., Holder JL Jr; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, Texas, USA., Jimenez-Gomez A; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Kerins CA; Department of Pediatric Dentistry, School of Dentistry, Texas A&M University, Dallas, Texas, USA., Khan O; National Institute of Neurological Disease and Stroke, Bethesda, Maryland, USA., Kohlenberg T; University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Lacro RV; Department of Cardiology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Levi LA; University of Southern California, Arcadia, California, USA., Levy T; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Linnehan D; Phelan-McDermid Syndrome Foundation, Osprey, Florida, USA., Eva L; Kings College London, London, UK., Moshiree B; Department of Medicine, Wake Forest/Atrium Health, Charlotte, North Carolina, USA., Neumeyer A; Lurie Center for Autism, Massachusetts General Hospital, Lexington, Massachusetts, USA, Harvard Medical School, Boston, Massachusetts, USA., Paul SM; Rehabilitation Medicine Department, NIH Clinical Center, Bethesda, Maryland, USA., Phelan K; Genetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, Florida, USA., Persico A; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy., Rapaport R; Department of Pediatrics, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Rogers C; RCR Genetics, Greer, South Carolina, USA., Saland J; Department of Pediatrics, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Sethuram S; Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Shapiro J; Access Behavior Analysis, Indianapolis, Indiana, USA., Tarr PI; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., White KM; Division of Developmental Medicine, Department of Pediatrics, Riley Children's Health, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Riley Children's Health, Indianapolis, Indiana, USA., Wickstrom J; Sinai Rehabilitation Center, Lifebridge Health, Baltimore, Maryland, USA., Williams KM; Department of Pediatrics, The Ohio State University School of Medicine, Columbus, Ohio, USA., Winrow D; Emerson Health, Concord, Massachusetts, USA., Wishart B; Massachusetts General Hospital, Boston, Massachusetts, USA., Kolevzon A; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pediatrics, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2015-2044. Date of Electronic Publication: 2023 Jul 01.

Publication Type: Journal Article; Review

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

MeSH Terms: Chromosome Disorders*/diagnosis , Chromosome Disorders*/epidemiology , Chromosome Disorders*/genetics, Humans ; Phenotype ; Chromosome Deletion ; Nerve Tissue Proteins/genetics ; Chromosomes, Human, Pair 22/genetics

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome

Authors: Valledor M; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA., Byron M; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA., Dumas B; Department of Medicine, Boston University Medical Center, Boston, MA 02118, USA., Carone DM; Department of Biology, Swarthmore College, Swarthmore, PA 19081, USA., Hall LL; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA. Electronic address: lisa.hall@umassmed.edu., Lawrence JB; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA; Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA. Electronic address: jeanne.lawrence@umassmed.edu.

Source: Cell reports [Cell Rep] 2023 Jul 25; Vol. 42 (7), pp. 112686. Date of Electronic Publication: 2023 Jun 28.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

MeSH Terms: X Chromosome Inactivation* , RNA, Long Noncoding*/genetics , RNA, Long Noncoding*/metabolism, Humans ; Chromatin ; Gene Silencing ; X Chromosome/metabolism

Authors: van Eeghen AM; Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Advisium, 's Heeren Loo, Amersfoort, the Netherlands. Electronic address: a.m.vaneeghen@amsterdamumc.nl., Stemkens D; VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands., Fernández-Fructuoso JR; Hospital General Universitario Santa Lucía, Cartagena, Spain., Maruani A; Excellence Center for Autism Spectrum & Neurodevelopmental Disorders, Inovand, Child and Adolescent Psychiatry Department, Hôpital Robert Debre, APHP, Paris, France; CRMR DICR, Rare Disease Center for Intellectual Disabilities, Defiscience, France., Hadzsiev K; Department of Medical Genetics, Medical School, University of Pécs, Pécs, Hungary., van Balkom IDC; Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, the Netherlands.

Corporate Authors: ERN ITHACA Guideline Working Group; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Paris, France., European Phelan-McDermid syndrome guideline consortium; European Phelan-McDermid Syndrome Consortium (Coordinated by Conny van Ravenswaaij-Arts), University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.

Source: European journal of medical genetics [Eur J Med Genet] 2023 Jul; Vol. 66 (7), pp. 104747. Date of Electronic Publication: 2023 Mar 30.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

MeSH Terms: Transition to Adult Care* , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics , Chromosome Disorders*/therapy, Adult ; Humans ; Child ; Consensus ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome

Authors: Schön M; Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany. Electronic address: michael.schoen@uni-ulm.de., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Nevado J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Mattina T; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy., Gunnarsson C; Department of Clinical Genetics and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Centre for Rare Diseases in South East Region of Sweden, Linköping University, Linköping, Sweden., Hadzsiev K; Department of Medical Genetics, Medical School, University of Pécs, Pécs, Hungary., Verpelli C; CNR Neuroscience Institute, Milano, Italy., Bourgeron T; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, IUF, Paris, France., Jesse S; Department of Neurology, Ulm University, Ulm, Germany., van Ravenswaaij-Arts CMA; University of Groningen, University Medical Centre Groningen, Dept Genetics, Groningen, Netherlands., Hennekam RC; Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, Netherlands.

Corporate Authors: European Phelan-McDermid syndrome consortium; University of Groningen, University Medical Centre Groningen, Dept Genetics, Groningen, Netherlands.

Source: European journal of medical genetics [Eur J Med Genet] 2023 Jul; Vol. 66 (7), pp. 104754. Date of Electronic Publication: 2023 Mar 31.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

MeSH Terms: Intellectual Disability*/genetics , Intellectual Disability*/complications , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics , Chromosome Disorders*/pathology, Humans ; DNA Copy Number Variations ; Nerve Tissue Proteins/genetics ; Chromosome Deletion ; Phenotype ; Syndrome ; Chromosomes, Human, Pair 22/genetics

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome

Authors: García-Bravo C; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI), Universidad Rey Juan Carlos, Alcorcón, Spain., Martínez-Piédrola RM; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI), Universidad Rey Juan Carlos, Alcorcón, Spain., García-Bravo S; Physiocare Madrid, Physiotherapy Clinic, Madrid, Spain., Huertas-Hoyas E; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI), Universidad Rey Juan Carlos, Alcorcón, Spain., Pérez-De-Heredia-Torres M; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI), Universidad Rey Juan Carlos, Alcorcón, Spain., Palacios-Ceña D; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos, Universidad Rey Juan Carlos, Alcorcón, Spain.

Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2023 Jul; Vol. 65 (7), pp. 908-916. Date of Electronic Publication: 2022 Dec 04.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

MeSH Terms: Chromosome Disorders*/diagnosis , Chromosome Disorders*/therapy , Chromosome Disorders*/genetics, Child ; Humans ; Chromosome Deletion ; Parents ; Qualitative Research

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome

Authors: Koza SA; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands., Tabet AC; Cytogenetic Unit, Genetic Department, Robert Debré Hospital, Human Genetic and Cognitive Function, Pasteur Institute, Paris, France., Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Andres S; Medicover München Ost MVZ, Humangenetik, Munich, Germany., Anderlid BM; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Aten E; Leiden University Medical Center, Department of Clinical Genetics, Leiden, the Netherlands., Stiefsohn D; Phelan-McDermid-Gesellschaft e.V., Ulm, Germany., Evans DG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., van Ravenswaaij-Arts CMA; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands; ATN/Jonx, Groningen, the Netherlands. Electronic address: c.m.a.van.ravenswaaij@umcg.nl., Kant SG; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.

Corporate Authors: European Phelan-McDermid syndrome consortium; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.

Source: European journal of medical genetics [Eur J Med Genet] 2023 Jul; Vol. 66 (7), pp. 104773. Date of Electronic Publication: 2023 Apr 28.

Publication Type: Guideline; Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

MeSH Terms: Chromosome Disorders*/genetics , Neurofibromatosis 2*/genetics , Ring Chromosomes*, Adolescent ; Female ; Humans ; Pregnancy ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Counseling

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome

Authors: Phelan K; Florida Cancer Specialists & Research Institute LLC - Genetics Department, Fort Myers, FL, USA.

Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2023 Jul; Vol. 65 (7), pp. 862-863. Date of Electronic Publication: 2022 Dec 25.

Publication Type: Journal Article; Comment

Journal Info: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

MeSH Terms: Chromosome Disorders*/complications , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics, Child ; Humans ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome

Authors: Huang LL; Department of Obstetrics, the Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi. sujunyou@sr.gxmu.edu.cn., Chen HF, Huang Y, Wei YN, Tong JR, Chen Y, Luo J, Liao S, Wei LL, Deng L, Su JY

Source: European review for medical and pharmacological sciences [Eur Rev Med Pharmacol Sci] 2022 Oct; Vol. 26 (20), pp. 7572-7579.

Publication Type: Journal Article

Journal Info: Publisher: Verduci Country of Publication: Italy NLM ID: 9717360 Publication Model: Print Cited Medium: Internet ISSN: 2284-0729 (Electronic) Linking ISSN: 11283602 NLM ISO Abbreviation: Eur Rev Med Pharmacol Sci Subsets: MEDLINE

Authors: Setton J; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Hadi K; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; New York Genome Center, New York, NY, USA.; Physiology and Biophysics PhD program, Weill Cornell Medicine, New York, NY, USA., Choo ZN; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; New York Genome Center, New York, NY, USA.; Physiology and Biophysics PhD program, Weill Cornell Medicine, New York, NY, USA., Kuchin KS; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; New York Genome Center, New York, NY, USA.; Tri-Institutional PhD Program in Computational Biology and Medicine, Weill Cornell Medicine, New York, NY, USA., Tian H; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; New York Genome Center, New York, NY, USA., Da Cruz Paula A; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Rosiene J; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; New York Genome Center, New York, NY, USA., Selenica P; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Behr J; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; New York Genome Center, New York, NY, USA.; Tri-Institutional PhD Program in Computational Biology and Medicine, Weill Cornell Medicine, New York, NY, USA., Yao X; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; New York Genome Center, New York, NY, USA.; Tri-Institutional PhD Program in Computational Biology and Medicine, Weill Cornell Medicine, New York, NY, USA., Deshpande A; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; New York Genome Center, New York, NY, USA.; Tri-Institutional PhD Program in Computational Biology and Medicine, Weill Cornell Medicine, New York, NY, USA., Sigouros M; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Manohar J; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Nauseef JT; New York Genome Center, New York, NY, USA.; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.; Division of Hematology and Medical Oncology, Department of Medicine, Weill Cornell Medicine, New York, NY, USA.; Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA., Mosquera JM; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.; Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA., Elemento O; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.; Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA., Weigelt B; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Riaz N; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Reis-Filho JS; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Powell SN; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA. powells@mskcc.org., Imieliński M; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA. mski@mskilab.org.; New York Genome Center, New York, NY, USA. mski@mskilab.org.; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA. mski@mskilab.org.; Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA. mski@mskilab.org.; Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA. mski@mskilab.org.; Department of Pathology and Perlmutter Cancer Center, NYU Grossman School of Medicine, New York, NY, USA. mski@mskilab.org.

Source: Nature [Nature] 2023 Sep; Vol. 621 (7977), pp. 129-137. Date of Electronic Publication: 2023 Aug 16.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

MeSH Terms: BRCA1 Protein*/deficiency , BRCA1 Protein*/genetics , BRCA2 Protein*/deficiency , BRCA2 Protein*/genetics , DNA Repair*/genetics , Neoplasms*/genetics , Chromosome Aberrations*/classification, Humans ; Chromosome Inversion ; Translocation, Genetic/genetics ; Homologous Recombination ; Cytogenetic Analysis

Authors: Burgos CM; Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Gupta VS; Department of Pediatric Surgery, McGovern Medical School at UT Health and Children's Memorial Hermann Hospital, Houston, Texas, USA., Conner P; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden., Frenckner B; Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Lally KP; Department of Pediatric Surgery, McGovern Medical School at UT Health and Children's Memorial Hermann Hospital, Houston, Texas, USA., Ebanks AH; Department of Pediatric Surgery, McGovern Medical School at UT Health and Children's Memorial Hermann Hospital, Houston, Texas, USA., Harting MT; Department of Pediatric Surgery, McGovern Medical School at UT Health and Children's Memorial Hermann Hospital, Houston, Texas, USA.

Corporate Authors: Congenital Diaphragmatic Hernia Study Group

Source: Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1265-1273. Date of Electronic Publication: 2023 Jul 14.

Publication Type: Multicenter Study; Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

MeSH Terms: Hernias, Diaphragmatic, Congenital*/epidemiology , Chromosome Disorders* , Down Syndrome*, Infant, Newborn ; Infant ; Child ; Humans ; Incidence ; Chromosome Aberrations ; Trisomy 18 Syndrome ; Trisomy 13 Syndrome ; Registries ; Retrospective Studies

Authors: Poonperm R; Laboratory for Developmental Epigenetics, RIKEN Center for Biosystems Dynamics Research (BDR), Kobe, Japan., Ichihara S; Department of Advanced Bioscience, Graduate School of Agriculture, Kindai University, Nara, Japan.; Cell Architecture Laboratory, Department of Chromosome Science, National Institute of Genetics, Shizuoka, Japan., Miura H; Laboratory for Developmental Epigenetics, RIKEN Center for Biosystems Dynamics Research (BDR), Kobe, Japan., Tanigawa A; Laboratory for Developmental Epigenetics, RIKEN Center for Biosystems Dynamics Research (BDR), Kobe, Japan., Nagao K; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan., Obuse C; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan., Sado T; Department of Advanced Bioscience, Graduate School of Agriculture, Kindai University, Nara, Japan.; Agricultural Technology and Innovation Research Institute, Kindai University, Nara, Japan., Hiratani I; Laboratory for Developmental Epigenetics, RIKEN Center for Biosystems Dynamics Research (BDR), Kobe, Japan. ichiro.hiratani@riken.jp.

Source: Nature structural & molecular biology [Nat Struct Mol Biol] 2023 Aug; Vol. 30 (8), pp. 1224-1237. Date of Electronic Publication: 2023 Aug 10.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101186374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-9985 (Electronic) Linking ISSN: 15459985 NLM ISO Abbreviation: Nat Struct Mol Biol Subsets: MEDLINE

MeSH Terms: Heterochromatin*/genetics , X Chromosome*/genetics, X Chromosome Inactivation ; DNA Replication