Aminoacyl-tRNA synthetase deficiencies: in search of common themes

Autor: Kok, G, Schene, IF, Nikkels, PGJ, van Gassen, KLI, Terheggen-Lagro, Suzanne W.J., van der Crabben, SN, Hoeks, Sanne B. E. A., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, RHJ, Mulder, Margot F., van Hasselt, PM, Fuchs, SA

24. MISCELLANEOUS / NEW DISEASE GROUP : Oral / Poster

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10691::12be26d4c062625038d032405bfa8129
https://dspace.library.uu.nl/handle/1874/375710

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Autor: Rots D; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Yamada A; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan., Levy M; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ruiterkamp-Versteeg M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kummeling J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kasri NN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Venselaar H; Department of Medical BioSciences, Radboudumc, Nijmegen, the Netherlands., Alders M; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Elffers B; Cordaan, Amsterdam, the Netherlands; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands., van Beeck Calkoen R; Cordaan, Amsterdam, the Netherlands., Hofman S; Evean Oostergouw, Zaandam, the Netherlands., Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Valenzuela MI; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Maystadt I; Institut de Pathologie et de Génétique Centre de Génétique Humaineavenue G. Lemaître, 256041 Gosselies, Belgium., Piscopo C; Medical and Laboratory Unit, Antonio cardarelli Hospital, via A.Cardarelli 9, 80131 Naples, Italy., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy., Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Pasquier L; Reference Center for Rare Diseases, Hôpital Sud - CHU Rennes, Rennes, France., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Weisberg D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany., Wagemans A; Maasveld, Koraal, Maastricht, the Netherlands; Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Baralle D; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, UK., Foulds N; Wessex Regional Genetics Services, UHS NHS Foundation Trust, Southampton, United Kingdom., Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., van Hagen JM; Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, the Netherlands., Bijlsma EK; Department of Clinical Genetica, Leiden University Medical Center, Leiden, the Netherlands., Hakonen AH; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Courage C; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Genevieve D; Université Montpellier, Unité INSERM U1183, Montpellier, France; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France., Pinson L; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France., Forzano F; Clinical Genetics Department 7th Floor Borough WingGuy's Hospital, Guy's & St Thomas' NHS Foundation TrustGreat Maze Pond, London, UK., Deshpande C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Kluskens ML; Prinsenstichting, Purmerend, the Netherlands., Welling L; Prinsenstichting, Purmerend, the Netherlands., Plomp AS; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands., Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Kalsner L; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA., Hol JA; Clinical Genetics Department, Erasmus Medical Centre, Rotterdam, the Netherlands., Putoux A; Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Lazier J; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK., Ames E; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA., O'Shea J; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA., Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Fleischer J; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA., O'Connor M; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA., Pauly M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Kiraly-Borri C; Genetic Health Western Australia, Department of Health King Edward Memorial Hospital, Subiaco, WA 6008, Australia., Bouman A; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Barnett C; Paediatric and Reproductive Genetics Unit 8th Floor, Clarence Rieger Building Women's and Children's Hospital, 72 King William Road North, Adelaide, SA 5006, Australia., Nezarati M; Genetics, North York General Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada., Borch L; Department of Medical Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands., Özcan K; Neurodevelopmental Treatment Association Çocuk Fizyoterapistleri Derneği Bobath Terapistleri Derneği, Ankara, Turkey., Miot S; Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France; INSERM U1298, INM, Montpellier, France., Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy., Janssens K; Department of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Wilrijk, Belgium., Mor N; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel., Shomer I; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel., Dominissini D; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel., Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA., Muir AM; GeneDx Inc., Gaithersburg, MD 20877, USA., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Shinkai Y; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan. Electronic address: yshinkai@riken.jp., Kleefstra T; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1605-1625. Date of Electronic Publication: 2024 Jul 15.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Autor: Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CTt, 06032, USA., Peirent ER; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA., Jantti H; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Guxholli A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Srivastava KR; Medicinal and Process Chemistry Division, CSIR-Central Drug Research Institute, Lucknow, 226031, India., Orenstein N; Schneider Children's Medical Center of Israel, Petah Tikva, 4920235, Israel., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, 97239, USA., Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, 11481, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Punjab, 54770, Pakistan., Khan A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, 97239, USA.; Department of Zoology, University of Lakki Marwat, Lakki Marwat, Khyber Pakhtunkhwa, 28420, Pakistan., Khan SN; Department of Zoology, Kohat University of Science and Technology, Kohat, Pakistan., Geneviève D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Diseases and Developmental Anomalies, CHU, 34000, Montpellier, France., Lehalle D; Sorbonne University, Department of Medical Genetics, Hospital Armand Trousseau, 75012, Paris, France., van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Giltay JC; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Rafiullah R; Department of Biotechnology, Faculty of Life Sciences, BUITEMS, Quetta, 87300, Pakistan., Rappold GA; Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University, Heidelberg, 69120, Germany., Rabin R; Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, 10016, USA., Pappas JG; Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, 10016, USA., Wheeler MM; Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute, Washington, 98195, USA., Tsan YC; Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI, 48109, USA., Johnson MB; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Keegan CE; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Srivastava A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India. asrivastavapgi@gmail.com., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.

Publikováno v: Cell death & disease [Cell Death Dis] 2024 May 30; Vol. 15 (5), pp. 379. Date of Electronic Publication: 2024 May 30.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Autor: Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy. Electronic address: morleo@tigem.it., Venditti R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy., Theodorou E; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Briere LC; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Rosello M; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Tirozzi A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Department of Epidemiology and Prevention, IRCCS NEUROMED, Pozzilli, Italy., Tammaro R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Al-Badri N; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Shi J; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Putti E; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Ferrante L; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Cetrangolo V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA, USA., Tenconi R; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy., Iascone M; Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy., Mei D; Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy., Guerrini R; Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy., van der Smagt J; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Bilal M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center & King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Pingault V; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France., Attie-Bitach T; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France., Amiel J; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France., Ejaz R; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Zollino M; Institute of Medical Genetics, A. Gemelli School of Medicine, Catholic University of the Sacred Heart, Rome, Italy., Agrawal PB; Divisions of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA; Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Del Bene F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Sweetser DA; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: dsweetser@mgh.harvard.edu., Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, Naples, Italy; Medical Genetics, Department of Translational Medicine, University of Naples 'Federico II,' Via Sergio Pansini, 80131 Naples, Italy.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1377-1393. Date of Electronic Publication: 2023 Jul 13.