Search Results - "Autistic Disorder genetics"

1

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Contributors: Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera [San Carlos, CA, USA], Children’s Hospital Los Angeles [Los Angeles], Keck School of Medicine [Los Angeles], University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York Medical College (NYMC), University of Illinois [Chicago] (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand [Johannesburg] (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital [Mississauga, ON, Canada] (THP-MH), University of Washington [Seattle], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children [Toronto] (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California [Los Angeles] (UCLA), University of California (UC), The Jackson Laboratory [Bar Harbor] (JAX), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Heidelberg University Hospital [Heidelberg], This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834., Betancur, Catalina

Source: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩

Subject Terms: ClinGen, MESH: Humans, Autism Spectrum Disorder, Autism, MESH: Autism Spectrum Disorder* / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Intellectual Disability, MESH: Autistic Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, Humans, Autistic Disorder, MESH: Neurodevelopmental Disorders* / genetics, Genetics (clinical), Gene–disease validity

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https://doi.org/10.1016/j.gim.2022.05.001

2

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Contributors: Human genetics, Amsterdam Reproduction & Development (AR&D), Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, MUMC+: DA KG Polikliniek (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, Clinical Genetics, Human Genetics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics

Source: Translational psychiatry, 12(1):421
Dingemans, A J M, Truijen, K M G, van de Ven, S, Bernier, R, Bongers, E M H F, Bouman, A, de Graaff – Herder, L, Eichler, E E, Gerkes, E H, De Geus, C M, van Hagen, J M, Jansen, P R, Kerkhof, J, Kievit, A J A, Kleefstra, T, Maas, S M, de Man, S A, McConkey, H, Patterson, W G, Dobson, A T, Prijoles, E J, Sadikovic, B, Relator, R, Stevenson, R E, Stumpel, C T R M, Heijligers, M, Stuurman, K E, Löhner, K, Zeidler, S, Lee, J A, Lindy, A, Zou, F, Tedder, M L, Vissers, L E L M & de Vries, B B A 2022, ' The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 ', Translational Psychiatry, vol. 12, 421, pp. 1-11 . https://doi.org/10.1038/s41398-022-02189-1
Translational Psychiatry, 12:421, 1-11. Nature Publishing Group
Translational Psychiatry, 12(1):421. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, van de Ven, S, Bernier, R, Bongers, E M H F, Bouman, A, de Graaff – Herder, L, Eichler, E E, Gerkes, E H, de Geus, C M, van Hagen, J M, Jansen, P R, Kerkhof, J, Kievit, A J A, Kleefstra, T, Maas, S M, de Man, S A, McConkey, H, Patterson, W G, Dobson, A T, Prijoles, E J, Sadikovic, B, Relator, R, Stevenson, R E, Stumpel, C T R M, Heijligers, M, Stuurman, K E, Löhner, K, Zeidler, S, Lee, J A, Lindy, A, Zou, F, Tedder, M L, Vissers, L E L M & de Vries, B B A 2022, ' The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 ', Translational psychiatry, vol. 12, no. 1, 421 . https://doi.org/10.1038/s41398-022-02189-1
Translational Psychiatry, 12, 1
Translational Psychiatry, 12
Translational psychiatry, 12(1):421. Nature Publishing Group

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3

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Authors: Weiner, Daniel J., Ling, Emi, Erdin, Serkan, Tai, Derek J. C., Yadav, Rachita, Grove, Jakob, Fu, Jack M., Nadig, Ajay, Carey, Caitlin E., Baya, Nikolas, Bybjerg-Grauholm, Jonas, Mortensen, Preben B., Werge, Thomas, Demontis, Ditte, Mors, Ole, Nordentoft, Merete, Als, Thomas D., Baekvad-Hansen, Marie, Rosengren, Anders, Havdahl, Alexandra, Hedemand, Anne, Palotie, Aarno, Chakravarti, Aravinda, Arking, Dan, Sulovari, Arvis, Starnawska, Anna, Thiruvahindrapuram, Bhooma, de Leeuw, Christiaan, Carey, Caitlin, Ladd-Acosta, Christine, van der Merwe, Celia, Devlin, Bernie, Cook, Edwin H., Eichler, Evan, Corfield, Elisabeth, Dieleman, Gwen, Schellenberg, Gerard, Hakonarson, Hakon, Coon, Hilary, Dziobek, Isabel, Vorstman, Jacob, Girault, Jessica, Sutcliffe, James S., Duan, Jinjie, Nurnberger, John, Hallmayer, Joachim, Buxbaum, Joseph, Piven, Joseph, Weiss, Lauren, Davis, Lea, Janecka, Magdalena, Mattheisen, Manuel, State, Matthew W., Gill, Michael, Daly, Mark, Uddin, Mohammed, Andreassen, Ole, Szatmari, Peter, Lee, Phil Hyoun, Anney, Richard, Ripke, Stephan, Satterstrom, Kyle, Santangelo, Susan, Kuo, Susan, van Elst, Ludger Tebartz, Rolland, Thomas, Bougeron, Thomas, Polderman, Tinca, Turner, Tychele, Underwood, Jack, Manikandan, Veera, Pillalamarri, Vamsee, Warrier, Varun, Philipsen, Alexandra, Reif, Andreas, Hinney, Anke, Cormand, Bru, Bau, Claiton H. D., Rovaris, Diego Luiz, Sonuga-Barke, Edmund, Corfield, Elizabeth, Grevet, Eugenio Horacio, Salum, Giovanni, Larsson, Henrik, Buitelaar, Jan, Haavik, Jan, McGough, James, Kuntsi, Jonna, Elia, Josephine, Lesch, Klaus-Peter, Klein, Marieke, Bellgrove, Mark, Tesli, Martin, Leung, Patrick W. L., Pan, Pedro M., Dalsgaard, Soren, Loo, Sandra, Medland, Sarah, Faraone, Stephen V., Reichborn-Kjennerud, Ted, Banaschewski, Tobias, Hawi, Ziarih, Berretta, Sabina, Macosko, Evan Z., Sebat, Jonathan, O’Connor, Luke J., Hougaard, David M., Børglum, Anders D., Talkowski, Michael E., McCarroll, Steven A., Robinson, Elise B.

Contributors: Pediatrics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Hinney, Anke (Beitragende*r), Child and Adolescent Psychiatry / Psychology, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Complex Trait Genetics, Clinical Developmental Psychology

Source: Nature Genetics, 54(11), 1630-1639. Nature Publishing Group
Nature Genetics
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C E, Baya, N, Bybjerg-Grauholm, J, Mortensen, P B, Werge, T, Demontis, D, Mors, O, Nordentoft, M, Als, T D, Baekvad-Hansen, M, Rosengren, A, Havdahl, A, Hedemand, A, Palotie, A, Chakravarti, A, Arking, D, Sulovari, A, Starnawska, A, Thiruvahindrapuram, B, de Leeuw, C, Carey, C, Ladd-Acosta, C, van der Merwe, C, Devlin, B, Cook, E H, Eichler, E, Corfield, E, Dieleman, G, Schellenberg, G, Hakonarson, H, Coon, H, Dziobek, I, Vorstman, J, Girault, J, Sutcliffe, J S, Duan, J, Nurnberger, J, Hallmayer, J, Buxbaum, J, Piven, J, Weiss, L, Davis, L, Janecka, M, Mattheisen, M, State, M W, Gill, M, Daly, M, Uddin, M, Andreassen, O, Szatmari, P, Lee, P H, Anney, R, Ripke, S, Satterstrom, K, Santangelo, S, Kuo, S, van Elst, L T, Rolland, T, Bougeron, T, Polderman, T, Turner, T, Underwood, J, Manikandan, V, Pillalamarri, V, Warrier, V, Philipsen, A, Reif, A, Hinney, A, Cormand, B, Bau, C H D, Rovaris, D L, Sonuga-Barke, E, Corfield, E, Grevet, E H, Salum, G, Larsson, H, Buitelaar, J, Haavik, J, McGough, J, Kuntsi, J, Elia, J, Lesch, K-P, Klein, M, Bellgrove, M, Tesli, M, Leung, P W L, Pan, P M, Dalsgaard, S, Loo, S, Medland, S, iPSYCH Consortium, Faraone, S V, ASD Working Group of the Psychiatric Genomics Consortium, Reichborn-Kjennerud, T, ADHD Working Group of the Psychiatric Genomics Consortium, Banaschewski, T, Hawi, Z, Berretta, S, Macosko, E Z, Sebat, J, O’Connor, L J, Hougaard, D M, Børglum, A D, Talkowski, M E, McCarroll, S A & Robinson, E B 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C, Baya, N, Bybjerg-Grauholm, J, Mortensen, P B, Werge, T, Demontis, D, Mors, O, Nordentoft, M, Als, T D, Baekvad-Hansen, M, Rosengren, A, Havdahl, A, Hedemand, A, Palotie, A, Chakravarti, A, Arking, D, Sulovari, A, Starnawska, A, Thiruvahindrapuram, B, de Leeuw, C, Carey, C, Ladd-Acosta, C, van der Merwe, C, Devlin, B, Cook, E H, Eichler, E, Corfield, E, Dieleman, G, Schellenberg, G, Hakonarson, H, Coon, H, Dziobek, I, Vorstman, J, Girault, J, Sutcliffe, J S, Duan, J, Nurnberger, J, Hallmayer, J, Buxbaum, J, Hinney, A, Larsson, H, Dalsgaard, S, iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium & ADHD Working Group of the Psychiatric Genomics Consortium 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C E, Baya, N, Bybjerg-Grauholm, J, iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium, ADHD Working Group of the Psychiatric Genomics Consortium, Berretta, S, Macosko, E Z, Sebat, J, O'Connor, L J, Hougaard, D M, Børglum, A D, Talkowski, M E, McCarroll, S A & Robinson, E B 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium & ADHD Working Group of the Psychiatric Genomics Consortium 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Nature genetics, 54(11), 1630-1639. Nature Publishing Group

Subject Terms: Genètica humana, DNA Copy Number Variations, Autism, 3112 Neurosciences, Medizin, Chromosomes, Cromosomes, Human genetics, Genetics, Humans, Autistic Disorder, Chromosome Deletion, Chromosomes, Human, Pair 16/genetics, Autisme, Chromosomes, Human, Pair 16, Autistic Disorder/genetics

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4

IDEAS: individual level differential expression analysis for single-cell RNA-seq data

Authors: Mengqi Zhang, Si Liu, Zhen Miao, Fang Han, Raphael Gottardo, Wei Sun

Source: Genome biology, vol. 23, no. 1, pp. 33
Genome Biology
Genome Biology, Vol 23, Iss 1, Pp 1-17 (2022)

Subject Terms: IDEAS, Autistic Disorder/genetics, Autistic Disorder/metabolism, Autistic Disorder/pathology, COVID-19/genetics, COVID-19/metabolism, COVID-19/pathology, COVID-19/virology, Case-Control Studies, Gene Expression Profiling, Gene Expression Regulation, Humans, Microglia/metabolism, Microglia/pathology, Nerve Tissue Proteins/classification, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/metabolism, SARS-CoV-2/pathogenicity, Sequence Analysis, RNA/methods, Severity of Illness Index, Single-Cell Analysis/methods, Software, Whole Exome Sequencing, Differential expression, scRNA-seq, QH301-705.5, SARS-CoV-2, Sequence Analysis, RNA, Method, COVID-19, Nerve Tissue Proteins, QH426-470, Exome Sequencing, Genetics, Microglia, Biology (General), Autistic Disorder, Single-Cell Analysis

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https://serval.unil.ch/resource/serval:BIB_B48AF13F6F91.P001/REF.pdf

5

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Authors: Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon

Contributors: Pennsylvania State University (Penn State), Penn State System, Baylor College of Medicine (BCM), Baylor University, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Michigan State University [East Lansing], Michigan State University System, McMaster University [Hamilton, Ontario], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Antwerp University Hospital [Edegem] (UZA), Murdoch Children's Research Institute (MCRI), Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Perelman School of Medicine, University of Pennsylvania [Philadelphia], Medical Genetics, Service de Génétique Médicale, Hôpital Bretonneau, Tours, Laboratoire de génétique médicale et cytogénétique [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Liège (CHU-Liège), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Greenwood Genetic Center, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Greenwood Genetic Center [Greenwood, South Carolina, USA], Institut de Génétique Médicale [CHRU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

Source: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine

Subject Terms: Male, Parents, 0301 basic medicine, Proband, Neuronal, Genetic Carrier Screening, 16p11.2 deletion, 030105 genetics & heredity, Cognition, Family history, Neural Cell Adhesion Molecules, Genetics (clinical), Exome sequencing, Sequence Deletion, Genetics, Phenotype, Penetrance, Pedigree, Autistic Disorder/genetics, Autistic Disorder/physiopathology, Cell Adhesion Molecules, Neuronal/genetics, Chromosomes, Human, Pair 16/genetics, Cognition/physiology, DNA Copy Number Variations/genetics, Female, Gene Expression Regulation/genetics, Genetic Background, Humans, Methyltransferases/genetics, Nerve Tissue Proteins/genetics, Proteins/genetics, Sequence Deletion/genetics, Siblings, CNV, autism, modifier, phenotypic variability, Human, DNA Copy Number Variations, Cell Adhesion Molecules, Neuronal, Nerve Tissue Proteins, Biology, Chromosomes, Article, 03 medical and health sciences, mental disorders, medicine, Autistic Disorder, Gene, Pair 16, Calcium-Binding Proteins, Proteins, Methyltransferases, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, Human medicine, Chromosomes, Human, Pair 16, Cell Adhesion Molecules, Transcription Factors

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6

Academic Journal

A case of pervasive developmental disorder with chromosomal translocation 1-4

Authors: Tarelho, Luciana G., Assumpção Jr., Francisco B.

Source: Arquivos de Neuro-Psiquiatria. March 2007 65(1)

Subject Terms: autistic disorder/genetics, child developmental disorders, pervasive, translocation, genetic

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7

Hominin-specific regulatory elements selectively emerged in oligodendrocytes and are disrupted in autism patients

Authors: Valerio Bianchi, Marit W. Vermunt, Ilia Sarah Timpanaro, Wouter de Laat, Niels Geijsen, Mirna L. Baak, Geert Geeven, Bas Castelijns, Caroline R.M. Wiggers, Peng Shang, Menno P. Creyghton, Ivanela Kondova

Contributors: Developmental Biology, Hubrecht Institute for Developmental Biology and Stem Cell Research

Source: Nature Communications, 11(1):301. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications
Nature Communications, 11(1). Nature Publishing Group

Subject Terms: General Physics and Astronomy, Regulatory Sequences, Nucleic Acid, 0302 clinical medicine, lcsh:Science, Regulation of gene expression, 0303 health sciences, Multidisciplinary, Hominidae/genetics, Brain, Callithrix, Hominidae, Genomics, Human brain, Autism spectrum disorders, Chromatin, Oligodendroglia, medicine.anatomical_structure, Regulatory sequence, Female, Disease Susceptibility, Autistic Disorder/genetics, Chromosomes/chemistry, Chromatin Immunoprecipitation, Cell type, Pan troglodytes, Evolution, Science, Biology, Article, Evolutionary genetics, Chromosomes, General Biochemistry, Genetics and Molecular Biology, Evolution, Molecular, 03 medical and health sciences, medicine, Brain/metabolism, Animals, Humans, Autistic Disorder, Gene, 030304 developmental biology, Nucleic Acid/physiology, Regulatory Sequences, Nucleic Acid/physiology, Molecular, General Chemistry, medicine.disease, Macaca mulatta, Oligodendrocyte, Gene regulation, Oligodendroglia/metabolism, Gene Expression Regulation, Autism, lcsh:Q, Regulatory Sequences, Neuroscience, 030217 neurology & neurosurgery

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8

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Contributors: University of Southern Denmark (SDU), Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM), Antwerp University Hospital [Edegem] (UZA), Service of Neurology [CHUV, Lausanne, Switzerland], Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Oxford University Hospitals NHS Trust, University of Oxford [Oxford], Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Métropole Savoie [Chambéry], Aarhus University Hospital, Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Centre Hospitalier Universitaire de Liège (CHU-Liège), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, The Danish Epilepsy Centre Filadelfia [Dianalund, Denmark], 15q11.2 Working Group

Source: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (10), pp.701-710. ⟨10.1136/jmedgenet-2018-105879⟩
15q11.2 Working Group 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879
Journal of medical genetics
Jønch, A E, Douard, E, Moreau, C, Van Dijck, A, Passeggeri, M, Kooy, F, Puechberty, J, Campbell, C, Sanlaville, D, Lefroy, H, Richetin, S, Pain, A, Geneviève, D, Kini, U, Le Caignec, C, Lespinasse, J, Skytte, A B, Isidor, B, Zweier, C, Caberg, J H, Delrue, M A, Møller, R S, Bojesen, A, Hjalgrim, H, Brasch-Andersen, C, Lemyre, E, Ousager, L B, Jacquemont, S & 15q11.2 Working Group 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : Recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879
Jønch, A E, Douard, E, Moreau, C, Van Dijck, A, Passeggeri, M, Kooy, F, Puechberty, J, Campbell, C, Sanlaville, D, Lefroy, H, Richetin, S, Pain, A, Geneviève, D, Kini, U, Le Caignec, C, Lespinasse, J, Skytte, A B, Isidor, B, Zweier, C, Caberg, J H, Delrue, M A, Møller, R S, Bojesen, A, Hjalgrim, H, Brasch-Andersen, C, Lemyre, E, Ousager, L B & Jacquemont, S 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879

Subject Terms: Male, Pediatrics, Heart malformation, 15q11.2 copy-number variants, [SDV]Life Sciences [q-bio], Neurodevelopmental Disorders/genetics, Epilepsy/genetics, Cohort Studies, Epilepsy, 0302 clinical medicine, Loss of Function Mutation, Gene duplication, Genetics (clinical), Sequence Deletion, 0303 health sciences, loss-of-function intolerance, neurodevelopmental disorders, Microdeletion syndrome, congenital heart disease, Schizophrenia, Female, Autistic Disorder/genetics, medicine.medical_specialty, Heart Diseases, DNA Copy Number Variations, Genetic counseling, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Humans, Autistic Disorder, Biology, 030304 developmental biology, Heart Diseases/congenital, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, medicine.disease, Intellectual Disability/genetics, Case-Control Studies, Autism, epilepsy, Clinical case, Human medicine, Copy-Number Variation, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

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https://hal.umontpellier.fr/hal-02563409

9

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Contributors: Sudmant, Peter

Source: Nature, vol 536, iss 7615
Nature
Nature, vol. 536, no. 7615, pp. 205-209
Peter Sudmant

Subject Terms: 0301 basic medicine, Time Factors, Pan troglodytes, DNA Copy Number Variations, Evolution, General Science & Technology, Iron, Locus (genetics), Biology, Article, Chromosomes, Animals, Autistic Disorder/genetics, Chromosome Breakage, Chromosomes, Human, Pair 16/genetics, DNA Copy Number Variations/genetics, Evolution, Molecular, Gene Duplication, Genetic Predisposition to Disease, Homeostasis/genetics, Humans, Iron/metabolism, Pan troglodytes/genetics, Pongo/genetics, Proteins/analysis, Proteins/genetics, Recombination, Genetic, Species Specificity, 03 medical and health sciences, 0302 clinical medicine, Genetic, Gene duplication, Genetics, Homeostasis, Gene family, Copy-number variation, Autistic Disorder, Segmental duplication, Multidisciplinary, Pair 16, Human evolutionary genetics, Human Genome, Pongo, Proteins, Molecular, Recombination, 3. Good health, 030104 developmental biology, Homo sapiens, Iron homeostasis, Iron-sulfur proteins, Chromosome breakage, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Human, Biotechnology

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https://doi.org/10.1038/nature19075

10

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Authors: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.

Contributors: Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.3rd, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

Source: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30

Subject Terms: Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery

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11

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

Authors: Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C. Collins, Konstantin Popadin, Camille S. Bonnet, Giuliana Giannuzzi, Anne M. Maillard, Sébastien Jacquemont, Binnaz Yalcin, Nicholas Katsanis, Christelle Golzio, Alexandre Reymond, Christina Fagerberg, Charlotte Brasch Andersen, Martine Doco-Fenzy, Marie-Ange Delrue, Laurence Faivre, Benoit Arveiler, David Geneviève, Anouck Schneider, Marion Gerard, Joris Andrieux, Salima El Chehadeh, Elise Schaefer, Christel Depienne, Mieke Van Haelst, Eva H. Brilstra, Ellen Van Binsbergen, Jeske van Harssel, Lars T. van der Veken, James F. Gusella, Yiping Shen, Elyse Mitchell, Usha Kini, Lara Hawkes, Carolyn Campbell, Florence Niel Butschi, Marie-Claude Addor, Jacques S. Beckmann

Contributors: Université de Lausanne = University of Lausanne (UNIL), Duke University [Durham], Lausanne University Hospital, Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immanuel Kant Baltic Federal University (IKBFU), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 16p11.2 Consortium: Maria Nicla Loviglio, Aia Elise Jønch, Konstantin Popadin, Giuliana Giannuzzi, Anne M Maillard, Christina Fagerberg, Charlotte Brasch Andersen, Martine Doco-Fenzy, Marie-Ange Delrue, Laurence Faivre, Benoit Arveiler, David Geneviève, Anouck Schneider, Marion Gerard, Joris Andrieux, Salima El Chehadeh, Elise Schaefer, Christel Depienne, Mieke Van Haelst, Eva H Brilstra, Ellen Van Binsbergen, Jeske van Harssel, Lars T van der Veken, James F Gusella, Yiping Shen, Elyse Mitchell, Usha Kini, Lara Hawkes, Carolyn Campbell, Florence Niel Butschi, Marie-Claude Addor, Jacques S Beckmann, Sébastien Jacquemont, Alexandre Reymond., Dupuis, Christine, Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics

Source: American Journal of Human Genetics, 101(4), 564. Cell Press
16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American Journal of Human Genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016
Loviglio, M N, Arbogast, T, Jønch, A E, Collins, S C, Popadin, K, Bonnet, C S, Giannuzzi, G, Maillard, A M, Jacquemont, S & 16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American journal of human genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016
American Journal of Human Genetics
American Journal of Human Genetics, 2017, 101, pp.564-577. ⟨10.1016/j.ajhg.2017.08.016⟩
American journal of human genetics, 101(4), 564-577. Cell Press

Subject Terms: Male, 0301 basic medicine, epistasis, Microcephaly, obesity, Embryo, Nonmammalian, Phosphoproteins/physiology, MAPK3, [SDV]Life Sciences [q-bio], Chromosome Disorders, Adaptor Proteins, Signal Transducing/genetics, zebrafish, Cohort Studies, Microcephaly/genetics, Mice, 0302 clinical medicine, Chromosome Disorders/genetics, Gene duplication, Genetics(clinical), Child, Zebrafish, Genetics (clinical), Aged, 80 and over, Mice, Knockout, Genetics, ZAP70, Brain, Gene Expression Regulation, Developmental, head size, Middle Aged, 16p11.2, Phenotype, Chromatin, [SDV] Life Sciences [q-bio], Child, Preschool, Knockout mouse, Female, Chromosomes, Human, Pair 16/genetics, Chromosome Deletion, Autistic Disorder/genetics, Signal Transduction, Adult, DNA Copy Number Variations, Adolescent, autism, Biology, Article, Young Adult, 03 medical and health sciences, Intellectual Disability, Zebrafish Proteins/genetics, medicine, Humans, Animals, Brain/metabolism, Autistic Disorder, Membrane Proteins/genetics, Adaptor Proteins, Signal Transducing, Aged, genome architecture, Membrane Proteins, Infant, Zebrafish Proteins, Phosphoproteins, medicine.disease, biology.organism_classification, Intellectual Disability/genetics, Mice, Inbred C57BL, 030104 developmental biology, Zebrafish/embryology, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Embryo, Nonmammalian/metabolism

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12

Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders

Authors: Xiaowei Sylvia Chen, Sonja C. Vernes, Paolo Devanna, Simon E. Fisher, Clyde Francks, Shelley D. Smith, Alessandro Gialluisi, Joses Ho, Dianne F. Newbury, Dario Gajewski

Contributors: University of St Andrews. School of Biology

Source: Molecular Psychiatry
Molecular Psychiatry, 23, 1375-1384
Molecular Psychiatry, 23, pp. 1375-1384

Subject Terms: 0301 basic medicine, Male, Schizophrenia/genetics, Bipolar Disorder, QH301 Biology, Disease, microRNAs/genetics, High-throughput nucleotide sequencing/methods, Cohort Studies, Genetic variation/genetics, DNA, intergenic/genetics, Nervous system diseases/genetics, Child, 3' Untranslated Regions, Regulation of gene expression, Binding sites/genetics, Mental Disorders, High-Throughput Nucleotide Sequencing, Genomics, 3. Good health, Psychiatry and Mental health, 3' Untranslated Regions/genetics, Schizophrenia, Cohort studies, DNA, Intergenic, Female, Original Article, RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry, Sequence Analysis, Neuroinformatics, Adult, Mental disorders/genetics, MiRNA binding, Computational biology, QH426 Genetics, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, QH301, SDG 3 - Good Health and Well-being, Autistic disorder/genetics, medicine, Humans, Genetic Predisposition to Disease, Language Development Disorders, Bipolar disorder/genetics, Language development disorders/genetics, Autistic Disorder, Molecular Biology, Gene, QH426, Sequence analysis/methods, Binding Sites, Genetic predisposition to Disease, Neurodevelopmental disorders/genetics, Genetic Variation, DAS, medicine.disease, Gene expression regulation/genetics, MicroRNAs, 030104 developmental biology, Gene Expression Regulation, Neurodevelopmental Disorders, Behavioral medicine, RC0321, Autism, Nervous System Diseases, Neuroscience

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https://pubmed.ncbi.nlm.nih.gov/28289279

13

Evidencia de asociación entre el gen SLC6A4 y efectos epistáticos con variantes en HTR2A en la etiología del autismo en la población antioqueña

Authors: Mauricio Camargo, Julio César Cardona, Jaime Carrizosa, Clara Ávila, Lina Galvis, Andrés Ruiz, William Cornejo, María Elena Sampedro, Gabriel Bedoya, Ana Victoria Valencia, Catalina María Ospina Mesa, Ana Lucia Páez

Source: Biomédica: revista del Instituto Nacional de Salud, Vol 32, Iss 4, Pp 585-601 (2012)

Subject Terms: lcsh:Arctic medicine. Tropical medicine, lcsh:RC955-962, lcsh:R, polymorphism, single nucleotide, polymorphism, genetic, lcsh:Medicine, epístasis, genetic, General Biochemistry, Genetics and Molecular Biology, Autistic disorder/genetics, genetic association studies, serotonin

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc983269880982eb21e04bd85a8312d3
http://www.revistabiomedica.org/index.php/biomedica/article/view/593

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14

Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

Authors: Angela La Neve, T. Francavilla, Pasquale Striano, Nicola Pietrafusa, Pedro Rodenas-Cuadrado, Sonja C. Vernes

Contributors: University of St Andrews. School of Biology

Source: BMC Medical Genetics
BioRxiv

Subject Terms: Pediatrics, CNTNAP2, QH301 Biology, Autism, Nerve tissue proteins/deficiency, Intellectual disability, Language disorders/genetics, Case Report, Epilepsy/genetics, Epilepsy, Language regression, Genetics(clinical), Child, Genetics (clinical), Language impairment, Syndrome, Phenotype, Pedigree, Schizophrenia, Child, Preschool, Membrane proteins/deficiency, Female, RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry, Sequence Analysis, Autistic Disorder, Gene Deletion, Heterozygote, Humans, Infant, Intellectual Disability, Language Disorders, Membrane Proteins, Mutation, Nerve Tissue Proteins, Sequence Analysis, DNA, Genetics, medicine.medical_specialty, Child, preschool, Consanguineous family, QH426 Genetics, QH301, Autistic disorder/genetics, medicine, Preschool, QH426, Gene deletion, business.industry, Sequence analysis, DNA, DNA, medicine.disease, Intellectual disability/genetics, RC0321, business

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https://doi.org/10.1101/034363

15

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Authors: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D

Contributors: Blaumeiser, Bettina, 2p15 Consortium, 16p11.2 Consortium, Loviglio, M.N., Männik, K., van der Werf, I., Giannuzzi, G., Zazhytska, M., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Roberts-Caldeira, I., Hippolyte, L., Maillard, A.M., Ferrarini, A., Butschi, F.N., Conrad, B., Addor, M.C., Belfiore, M., Roetzer, K., Dijck, A.V., Blaumeiser, B., Kooy, F., Roelens, F., Dheedene, A., Chiaie, B.D., Menten, B., Oostra, A., Caberg, J.H., Carter, M., Kellam, B., Stavropoulos, D.J., Marshall, C., Scherer, S.W., Weksberg, R., Cytrynbaum, C., Bassett, A., Lowther, C., Gillis, J., MacKay, S., Bache, I., Ousager, L.B., Smerdel, M.P., Graakjaer, J., Kjaergaard, S., Metspalu, A., Mathieu, M., Bonneau, D., Guichet, A., Parent, P., Férec, C., Gerard, M., Plessis, G., Lespinasse, J., Masurel, A., Marle, N., Faivre, L., Callier, P., Layet, V., Meur, N.L., Le Goff, C., Duban-Bedu, B., Sukno, S., Boute, O., Andrieux, J., Blanchet, P., Geneviève, D., Puechberty, J., Schneider, A., Leheup, B., Jonveaux, P., Mercier, S., David, A., Le Caignec, C., de Pontual, L., Pipiras, E., Jacquette, A., Keren, B., Gilbert-Dussardier, B., Bilan, F., Goldenberg, A., Chambon, P., Toutain, A., Till, M., Sanlaville, D., Leube, B., Royer-Pokora, B., Grabe, H.J., Schmidt, C.O., Schurmann, C., Homuth, G., Thorleifsson, G., Thorsteinsdottir, U., Bernardini, L., Novelli, A., Micale, L., Merla, G., Zollino, M., Mari, F., Rizzo, C.L., Renieri, A., Silengo, M., Vulto-van Silfhout, A.T., Schouten, M., Pfundt, R., de Leeuw, N., Vansenne, F., Maas, S.M., Barge-Schaapveld, D.Q., Knegt, A.C., Stadheim, B., Rodningen, O., Houge, G., Price, S., Hawkes, L., Campbell, C., Kini, U., Vogt, J., Walters, R., Blakemore, A., Gusella, J.F., Shen, Y., Scott, D., Bacino, C.A., Tsuchiya, K., Ladda, R., Sell, S., Asamoah, A., Hamati, A.I., Rosenfeld, J.A., Shaffer, L.G., Mitchell, E., Hodge, J.C., Beckmann, J.S., Jacquemont, S., Reymond, A., Ewans, L.J., Mowat, D., Walker, J., Amor, D.J., Esch, H.V., Leroy, P., Bamforth, J.S., Babu, D., Isidor, B., DiDonato, N., Hackmann, K., Passeggeri, M., Haeringen, A.V., Smith, R., Ellingwood, S., Farber, D.M., Puri, V., Zadeh, N., Weaver, D.D., Miller, M., Wilks, T., Jorgez, C.J., Lafayette, D., Other departments, Human Genetics

Source: Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84

Subject Terms: 0301 basic medicine, Male, Microcephaly, Autism Spectrum Disorder, Obesity/genetics, Settore MED/03 - GENETICA MEDICA, Body Mass Index, Microcephaly/genetics, Gene duplication, Chromosome Duplication, ddc:576.5, Copy-number variation, Child, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics, medicine.diagnostic_test, Chromosome Mapping, Middle Aged, Phenotype, Chromatin, Chemistry, Psychiatry and Mental Health, Child, Preschool, Female, Original Article, Chromosomes, Human, Pair 16/genetics, Megalencephaly/genetics, Chromosome Deletion, Autistic Disorder/genetics, Molecular Biology, Cellular and Molecular Neuroscience, Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Adolescent, DNA Copy Number Variations, Locus (genetics), DNA Copy Number Variations/genetics, Biology, Aged, Autistic Disorder, Chromosomes, Human, Pair 16, Humans, Infant, Intellectual Disability, Megalencephaly, Obesity, Chromosomes, Fluorescence, Chromatin/metabolism, 03 medical and health sciences, medicine, Preschool, Gene, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Pair 16, medicine.disease, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, 030104 developmental biology, Human medicine, Chromosome Mapping/methods, Fluorescence in situ hybridization

File Description: pdf; application/pdf

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e98c19065714c6dc4dc463a87aed674
https://pubmed.ncbi.nlm.nih.gov/27240531

16

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Authors: K. Rack, Anne Destree, Jill A. Rosenfeld, Christine Verellen-Dumoulin, Lionel Willatt, T. De Ravel, R. Sandford, Joris Vermeesch, J. P. Fryns, Bernard Grisart

Contributors: Clinical sciences, Medical Genetics, Vrije Universiteit Brussel

Source: Journal of Medical Genetics. 46:524-530

Subject Terms: Male, medicine.medical_specialty, Microarray, Biology, Polymerase Chain Reaction, 03 medical and health sciences, 0302 clinical medicine, Chromosomes, Human, Pair 17/genetics, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Interpersonal Relations, Expressivity (genetics), Autistic Disorder, Child, Genotyping, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, 030304 developmental biology, Mental Disorders/genetics, 0303 health sciences, Mental Disorders, Haplotype, Cytogenetics, Penetrance, 3. Good health, Phenotype, Haplotypes, Microsatellite, Female, Autistic Disorder/genetics, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 17, Microsatellite Repeats

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f792d659150d164261ab30b624f1a63
https://doi.org/10.1136/jmg.2008.065367

17

L'autisme : surestimation des origines génétiques

Authors: Chamak, Brigitte

Contributors: CERMES3 - Centre de recherche Médecine, sciences, santé, santé mentale, société (CERMES3 - UMR 8211 / U988 / UM 7), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-École des hautes études en sciences sociales (EHESS), CERMES3 - Centre de recherche, médecine, sciences, santé, santé mentale, société ( CERMES3 - UM 7 (UMR 8211 / U988) ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ) -École des hautes études en sciences sociales ( EHESS ), École des hautes études en sciences sociales (EHESS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Chamak, Brigitte

Source: médecine/sciences
médecine/sciences, EDP Sciences, 2010, 26 (6-7), pp.659-662
médecine/sciences, 2010, 26 (6-7), pp.659-662

Subject Terms: étiologie, health care facilities, manpower, and services, education, MESH : Fragile X Syndrome/genetics, MESH: Genetic Diseases, Inborn/genetics, MESH : Genetic Diseases, Inborn/genetics, behavioral disciplines and activities, génétique, MESH : Heterozygote Detection, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, mental disorders, maladie génétique, MESH : Autistic Disorder/etiology, MESH: Autistic Disorder/epidemiology, health care economics and organizations, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, MESH: Humans, MESH: Heterozygote Detection, MESH : Autistic Disorder/genetics, MESH : Reproducibility of Results, jumeaux, MESH : Humans, MESH : Twins, Monozygotic, MESH: Reproducibility of Results, MESH : Autistic Disorder/epidemiology, MESH: Autistic Disorder/etiology, MESH: Autistic Disorder/genetics, MESH: Twins, Monozygotic, Autisme, MESH: Fragile X Syndrome/genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

File Description: application/pdf

Access URL: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::54e819dc6939bd516dfeb122ca472519
https://hal.archives-ouvertes.fr/hal-00716953

18

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Contributors: Génétique médicale, Hôpitaux Universitaires de Genève (HUG), Department of Genetics, Genetic Health Services Victoria, Department of Obstetrics and Gynecology, University of Oulu-Institute of Clinical Medicine, Department of Immunology, Genetics and Pathology [Uppsala, Sueden] (IGP), Uppsala University, Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Service de Génétique, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Poitiers - Faculté de Médecine et de Pharmacie, Université de Poitiers, Department of Human Genetics, Radboud University Medical Center [Nijmegen], Center for Medical Genetics, Victorian Clinical Genetics Services, Ethical, Legal, Social Issues in Genetics (ELSI), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Wiley, 2013, 162B (4), pp.388-403. ⟨10.1002/ajmg.b.32148⟩
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 162B(4), 388-403. Wiley
American Journal of Medical Genetics. B, Vol. 162, No 4 (2013) pp. 388-403
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013, 162B (4), pp.388-403. ⟨10.1002/ajmg.b.32148⟩

Subject Terms: [SDV]Life Sciences [q-bio], VARIANTS, Bioinformatics, Cell Adhesion Molecules, Neuronal/genetics, Cohort Studies, neurexin, 0302 clinical medicine, Intellectual disability, SCHIZOPHRENIA, Nerve Tissue Proteins/genetics, HUMAN GENOME, ddc:576.5, Copy-number variation, exon, deletion, Neural Cell Adhesion Molecules, Genetics (clinical), Sequence Deletion, seizures, Genetics, 0303 health sciences, Exons, Hypotonia, 3. Good health, Psychiatry and Mental health, Autism spectrum disorder, SEVERE DEVELOPMENTAL DELAY, medicine.symptom, Haploinsufficiency, Seizures/genetics, Autistic Disorder/genetics, Heterozygote, GENES, RARE DELETIONS, Cell Adhesion Molecules, Neuronal, review, autism, Nerve Tissue Proteins, Biology, Structural variation, 03 medical and health sciences, Cellular and Molecular Neuroscience, NRXN1, medicine, Humans, Expressivity (genetics), Autistic Disorder, 030304 developmental biology, COPY NUMBER VARIATION, HIGH-FREQUENCY, AUTISM SPECTRUM DISORDER, Calcium-Binding Proteins, medicine.disease, Karyotyping, Autism, 030217 neurology & neurosurgery, MENTAL-RETARDATION

File Description: application/pdf

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https://hdl.handle.net/1887/102688

19

CNVs conferring risk of autism or schizophrenia affect cognition in controls

Contributors: deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavík, Iceland, Central Institute of Mental Health, University of Heidelberg Medical Faculty Mannheim, 68159 Mannheim, Germany, Landspitali, Department of Psychiatry, National University Hospital, IS-101 Reykjavík, Iceland, Central Institute of Mental Health, University of Heidelberg Medical Faculty Mannheim, 68159 Mannheim, Germany, Institute of Psychiatry, King's College, 16 De Crespigny Park, London SE5 8AF, UK, University of Iceland, Faculty of Medicine, University of Iceland, IS-101 Reykjavík, Iceland, Röntgen Domus, Egilsgötu 3, IS-101 Reykjavík, Iceland, Mental Health Centre Sct. Hans, Copenhagen University Hospital, Research Institute of Biological Psychiatry, Boserupvej 2, DK-4000 Roskilde, Denmark, Tailored Therapeutics, Lilly Research Laboratories, Eli Lilly and Company, Lilly Corporate Center DC 1940, Indianapolis, Indiana 46285, USA, H. Lundbeck A/S, Ottiliavej 9, DK-2500 Valby, Denmark, The State Diagnostic and Counselling Centre, Digranesvegur 5, IS-200 Kópavogur, Iceland

Source: Nature. 505(7483)

Subject Terms: Male, Iceland, Learning Disorders/genetics, Genome-wide association study, Neuropsychological Tests, Autistic Disorder/genetics, Dyslexia, Cognition, Chromosomes, Human, Brain/anatomy & histology, Genetics, education.field_of_study, Chromosomes, Human, Pair 15/genetics, Multidisciplinary, Einhverfa, Learning Disabilities, Brain, Middle Aged, Magnetic Resonance Imaging, Phenotype, Dyslexia/genetics, Schizophrenia, Brain/abnormalities, Dyscalculia, Female, Chromosome Deletion, DNA Copy Number Variations/genetics, Adult, Psychosis, Heterozygote, Adolescent, DNA Copy Number Variations, Population, Young Adult, Geðklofi, mental disorders, medicine, Brain/metabolism, Humans, Genetic Predisposition to Disease, Autistic Disorder, education, Cognition/physiology, Aged, Chromosomes, Human, Pair 15, business.industry, Chromosomes, Human/genetics, Arfgengi, medicine.disease, Fertility, Schizophrenia/genetics, Case-Control Studies, Fertility/genetics, Autism, business

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad2a256454bef8a349b81240ed9df6e
https://pubmed.ncbi.nlm.nih.gov/24352232

20

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Authors: Sophie Dahoun, Armand Bottani, Periklis Makrythanasis, Stylianos E. Antonarakis, Frédérique Béna, Stefania Gimelli, Michael A. Morris

Source: European Journal of Medical Genetics, Vol. 55, No 1 (2012) pp. 63-6

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70cc8f51e31b07a16f1ffe5660f62d35
https://archive-ouverte.unige.ch/unige:34656

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