Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ 10 deficiency: Hypomorphic variants and two distinct disease entities.

Autor: Wongkittichote P; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Duque Lasio ML; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Magistrati M; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Pathak S; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA., Sample B; HSHS St. Vincent Hospital, Green Bay, WI, USA., Carvalho DR; SARAH Network Rehabilitation Hospitals, Genetic Unit, Brasilia, Federal District, Brazil., Ortega AB; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Castro MAA; Mendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil., de Gusmao CM; Mendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil., Toler TL; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Bellacchio E; Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy. Electronic address: cristina.dallabona@unipr.it., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2023 Aug; Vol. 139 (4), pp. 107630. Date of Electronic Publication: 2023 Jun 22.

Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.

Autor: Singh P; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology University of Iowa, Roy J. and Lucille A. Carver College of Medicine Iowa City Iowa USA., Amaro D; Department of Pathology and Anatomical Sciences University of Missouri School of Medicine Columbia Missouri USA., Obi O; Division of Neonatology, Department of Child Health University of Missouri School of Medicine Columbia Missouri USA., Kiran F; Department of Pathology and Anatomical Sciences University of Missouri School of Medicine Columbia Missouri USA., Hediger E; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA., Toler TL; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA., Dickson PI; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology University of Iowa, Roy J. and Lucille A. Carver College of Medicine Iowa City Iowa USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.

Publikováno v: JIMD reports [JIMD Rep] 2023 Apr 30; Vol. 64 (4), pp. 261-264. Date of Electronic Publication: 2023 Apr 30 (Print Publication: 2023).

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Autor: Harris HK; Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Baylor College of Medicine and Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, TX, USA., Nakayama T; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Lai J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Neuroscience, Harvard University, Boston, MA, USA., Zhao B; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Argyrou N; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Soucy A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Suslovitch V; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Rodan LH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Lesca G; Department of Medical Genetics, Lyon University Hospital, Bron, France., Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Applegate CD; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Turnpenny PD; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Simon MEH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Volker-Touw CML; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Gassen KLIV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Binsbergen EV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Vries BBA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Immken LL; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Buchanan C; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Willing M; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Toler TL; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Fassi E; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Baker L; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Vansenne F; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Wang X; Ciphergene, Beijing, China., Ambrus JL Jr; Division of Allergy, Immunology, and Rheumatology, SUNY at Buffalo School of Medicine, Buffalo, NY, USA., Fannemel M; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Agolini E; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Kibaek M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Labalme A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Poisson A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Payne KK; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA., Walsh LE; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA.; Department of Medical and Molecular Genetics, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gray C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Murrell J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bupp CP; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pascolini G; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Broly M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Rasool IG; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Zahoor MY; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan., Kraus C; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Reis A; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Iqbal M; Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Punjab, Pakistan., Uguen K; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Audebert-Bellanger S; Department of Medical Genetics, Brest University Hospital, Brest, France., Ferec C; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Redon S; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Baker J; Department of Genomic Medicine, Children's Minnesota, Minneapolis, MN, USA., Wu Y; Shanxi Children's Hospital, Taiyuan, China., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Universita Cattolica del Sacro Cuore, Rome, Italy., Syrbe S; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brosse I; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA., Cohen LL; Division of Medical Genetics, Weill Cornell Medical College, New York, NY, USA., Blomhoff A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Mignot C; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Courtin T; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Beggs AH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Neuroscience, Harvard University, Boston, MA, USA. timothy.yu@childrens.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1028-1040. Date of Electronic Publication: 2021 Mar 03.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Autor: Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Zacher P; The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Babcock HE; Rare Disease Institute, Children's National Hospital, Washington, DC, USA., Bakker DP; Department of Child Neurology, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Barwick K; Institute of Child Health, University Collge London, London, UK., Bonfert MV; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU - University Hospital, LudwigMaximilians-Universität, Munich, Germany., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA., Clarke AJ; Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK., Devine P; Department of Pathology, University of California San Francisco, San Francisco, CA, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Fraser JL; Rare Disease Institute, Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Gates A; Department of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA., Ghoumid J; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Hobson E; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK., Horvath G; Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada., Keller-Ramey J; GeneDx, Gaithersburg, MD, USA., Keren B; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France., Kurian MA; Institute of Child Health, University Collge London, London, UK., Lee V; Department of Neurology, University of California San Francisco, San Francisco, CA, USA., Leppig KA; Department of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA., Lundgren J; Institute of Clinical Sciences, Skane University Hospital, Lund, Sweden., McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., McLaughlin HM; Invitae Corporation, San Francisco, CA, USA., McTague A; Institute of Child Health, University Collge London, London, UK., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France., Mikati MA; Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Nava C; Sorbonne University, Paris Brain Institute, Inserm U1127, CNRS UMR 7225, AP-HP, Pitié Salpêtrière Hospital, Department of Genetics, Paris, France., Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Sampson JR; Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK., Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Shieh JTC; Division of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Slavotinek A; Division of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA., Stödberg T; Department of Women's and Children's Health Karolinska Institutet, Stockholm, Sweden., Stong N; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Taylor AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA., Toler TL; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., van den Boogaard MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van der Crabben SN; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van Ziffle J; Department of Pathology, University of California San Francisco, San Francisco, CA, USA., Wadley AF; University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany., Wigby K; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, CA, USA., Wortmann SB; Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.; University Childrens Hospital, Paracelsus Medical University, Salzburg, Austria., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Møller RS; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. konrad.platzer@medizin.uni-leipzig.de.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 796.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

Autor: Sanchez E; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France., Laplace-Builhé B; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France., Mau-Them FT; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Pôle de Biologie, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm-Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France., Richard E; IRCM, INSERM, U1194 Univ Montpellier, Montpellier, France., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Center for Genomic and Personalized Medicine, Reference Center for Developmental Disorders, Rouen, France., Toler TL; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Guignard T; Unité de Génétique Chromosomique, Plateforme ChromoStem, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France., Gatinois V; Unité de Génétique Chromosomique, Plateforme ChromoStem, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France., Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France., Blanchet C; Service ORL, Montpellier, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Bihoreau MT; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Nephi W; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Lüdecke HJ; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Verheij JBGM; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Moreau-Lenoir F; ORL CH d'Evreux, Évreux, France., Denoyelle F; Service d'ORL pédiatrique, Hôpital Universitaire Necker-Enfants Malades, APHP et François Jacob, CEA, Université Paris-Saclay, Evry, France., Rivière JB; Laboratoire de Génétique Moléculaire, Plateau technique de Biologie - CHU Dijon, Dijon, France., Laplanche JL; UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France., Willing M; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Captier G; Chirurgie plastique infantile Montpellier, Montpellier, France., Apparailly F; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France. florence.apparailly@inserm.fr., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Collet C; UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France., Djouad F; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France., Geneviève D; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 547-556. Date of Electronic Publication: 2019 Oct 24.