Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Da, Sweetser"'
Publikováno v:
Europe PubMed Central
Regional as well as cell-specific differences in gene expression are established and maintained in the perpetually regenerating intestinal epithelium. We have recently linked regions of the 5'-nontranscribed domain of the rat "liver" fatty acid bindi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c6f9e535188416dc232ea8f72b8491d0
http://europepmc.org/abstract/med/2656678
http://europepmc.org/abstract/med/2656678
Autor:
van der Laan L; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Lauffer P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Silva A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy., Huisman SA; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Zodiak, Prinsenstichting, Purmerend, the Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Baysal Ö; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Zweier C; Department of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany; Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany., Szakszon K; Institute of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD «Génétique des Anomalies du Développement», FHUTRANSLAD, Dijon, France; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLDAD, Dijon, France., Piton A; Genetic Diagnosis Laboratories, Strasbourg University Hospital, Strasbourg 67000, France., Mesman S; Swammerdam Institute for Life Sciences, FNWI, University of Amsterdam, Amsterdam, the Netherlands., Hochstenbach R; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Elting MW; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Plomp AS; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Mannens MMAM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Alders M; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., van Haelst MM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy., Henneman P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Sweetser DA; Division of Medical Genetics and Metabolism and Center for Genomic Medicine, Massachusetts General for Children, Boston, MA, USA., Sadikovic B; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Menke LA; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands. Electronic address: l.a.menke@amsterdamumc.nl.
Publikováno v:
HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100289. Date of Electronic Publication: 2024 Apr 02.
Autor:
Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, NY, USA., Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Hannan SB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Drewes Williams S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., O'Grady L; Division of Medical Genetics & Metabolism, Massachusetts General for Children, Boston, MA, USA; MGH Institute of Health Professions, Charlestown, MA, USA., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Person R; GeneDx, LLC, Gaithersburg, MD, USA., Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Roberts AE; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA; Department of Medicine, Division of Genetics, Boston Children's Hospital, Boston, MA, USA., Newburger JW; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Revah-Politi A; Institute for Genomic Medicine and Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA., Granadillo JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Accogli A; Division of Medical Genetics, Department of Medicine, McGill University Health Center, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada., Salpietro V; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London, UK., Capra V; Unit of Medical Genetics and Genomics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ghaloul-Gonzalez L; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Brueckner M; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Simon MEH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Sweetser DA; Division of Medical Genetics & Metabolism, Massachusetts General for Children, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Genetics, Texas Children's Hospital, Houston, TX, USA., Kirk SE; Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Cancer and Hematology Center, Houston, TX, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA., Chung WK; Departments of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: wendy.chung@childrens.harvard.edu., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA. Electronic address: hbellen@bcm.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 742-760. Date of Electronic Publication: 2024 Mar 12.
Autor:
Mueller AA; Department of Medicine., Sasaki T; Department of Medicine., Keegan JW; Department of Surgery, and., Nguyen JP; Department of Surgery, and., Griffith A; Department of Surgery, and., Horisberger AM; Department of Medicine., Licata T; Department of Medicine., Fieg E; Department of Medicine., Cao Y; Department of Medicine., Elahee M; Department of Medicine., Marks KE; Department of Medicine., Simmons DP; Department of Medicine.; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Briere LC; Center for Genomic Medicine., Cobban LA; Department of Medicine., Pallais JC; Department of Medicine., High FA; Department of Pediatrics, and., Walker MA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Linnoila JJ; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Sparks JA; Department of Medicine., Holers VM; Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Costenbader KH; Department of Medicine., Sweetser DA; Center for Genomic Medicine.; Department of Pediatrics, and., Krier JB; Department of Medicine., Loscalzo J; Department of Medicine., Lederer JA; Department of Surgery, and., Rao DA; Department of Medicine.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2023 Dec 15; Vol. 133 (24). Date of Electronic Publication: 2023 Dec 15.
Autor:
Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States., Alvarez AN; Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States., Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States., Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States., Crawford MW; Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States., Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, United States., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States.; Department of Neuroscience, Baylor College of Medicine, Houston, United States., Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, United States.; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, United States., Wilson JL; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University, Portland, United States., Napier RJ; Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States.; VA Portland Health Care System, Portland, United States.; Division of Arthritis & Rheumatic Diseases, Oregon Health & Science University, Portland, United States., Pruneda JN; Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States.; Department of Neuroscience, Baylor College of Medicine, Houston, United States.
Publikováno v:
ELife [Elife] 2023 Dec 11; Vol. 12. Date of Electronic Publication: 2023 Dec 11.
Autor:
Galazo MJ; Department of Stem Cell and Regenerative Biology, and Center for Brain Science, Harvard University, Cambridge, MA 02138, USA., Sweetser DA; Department of Pediatrics, Divisions of Pediatric Hematology/Oncology and Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA., Macklis JD; Department of Stem Cell and Regenerative Biology, and Center for Brain Science, Harvard University, Cambridge, MA 02138, USA. Electronic address: jeffrey_macklis@harvard.edu.
Publikováno v:
Cell reports [Cell Rep] 2023 Aug 29; Vol. 42 (8), pp. 112957. Date of Electronic Publication: 2023 Aug 09.
Autor:
Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Jay KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., High FA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Publikováno v:
Genetics [Genetics] 2023 Aug 09; Vol. 224 (4).
Autor:
Niggl E; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands. Electronic address: a.bouman@erasmusmc.nl., Briere LC; Center for Genomic Medicine and Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA., Hoogenboezem RM; Department of Hematology, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Wallaard I; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; NGS Competence Center Tübingen, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Wilke M; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Harris-Mostert EDRO; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Elgersma M; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Bain J; Department of Neurology Division of Child Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, S5 7AU Sheffield, UK; Department of Oncology & Metabolism, University of Sheffield, S5 7AU Sheffield, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Blesson AE; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Ellingford JM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Goodloe DH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany., Jain M; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Krantz I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Luu SM; Waisman Center, University of Wisconsin Hospitals and Clinics, Madison, WI 53704, USA; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA., McPheron M; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA., Muss CL; Nemours / AI DuPont Hospital for Children, Wilmington, DE 19803, USA., Raible SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Starling S; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri- Kansas City, Kansas City, MO 64108, USA., Sweetser DA; Center for Genomic Medicine and Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA., Thiffault I; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA; Undiagnosed Rare Disease Clinic (URDC), Indiana University, Indianapolis, IN 46202, USA., Witt D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Woods E; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, S5 7AU Sheffield, UK., Zhou D; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri- Kansas City, Kansas City, MO 64108, USA., Elgersma Y; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands. Electronic address: y.elgersma@erasmusmc.nl., van Esbroeck ACM; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1414-1435.
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.
Autor:
Smits DJ; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands. d.smits@erasmusmc.nl., Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands., Popescu CA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands., Dias KR; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia., Ades L; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia., Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Kushima I; Medical Genomics Center, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Psychiatry, Graduate School of Medicine, Nagoya University, Nagoya, Japan., Aleksic B; Department of Psychiatry, Graduate School of Medicine, Nagoya University, Nagoya, Japan., Khan S; CENTOGENE GmbH, 18055, Rostock, Germany., Karageorgou V; CENTOGENE GmbH, 18055, Rostock, Germany., Ordonez N; CENTOGENE GmbH, 18055, Rostock, Germany., Sleutels FJGT; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands., van der Kaay DCM; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Rotterdam, The Netherlands., Van Mol C; Department of Pediatrics, GZ Antwerp, Antwerp, Belgium., Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000, Leuven, Belgium., Bertoli-Avella AM; CENTOGENE GmbH, 18055, Rostock, Germany., Roscioli T; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.
Publikováno v:
Human genetics [Hum Genet] 2023 Jul; Vol. 142 (7), pp. 949-964. Date of Electronic Publication: 2023 May 17.