Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Autor: Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Güse E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Skinner C; Greenwood Genetic Center, Greenwood, SC., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Bruno LP; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Granata S; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Marcelis C; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Baysal Ö; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Hartwich D; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Holthöfer L; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Marco P; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, NC., Kuismin O; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Cuscó I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Martinez-Agosto JA; Departments of Human Genetics, Pediatrics, and Psychiatry, UCLA David Geffen School of Medicine, Los Angeles, CA., Rabani AM; Department of Pediatrics & Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Close C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Wagner M; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Hannibal MC; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Thiffault I; Department of Pediatrics and Pathology, Genomic Medicine Center, Children's Mercy Kansas City and Children's Mercy Research Institute, Kansas City, MO., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada., McGinnis E; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Millichap J; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., van de Kamp JM; Department of Human Genetics, Amsterdam UMC, location VU Medical Center, Amsterdam, The Netherlands., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC., Dobson A; Greenwood Genetic Center, Greenwood, SC., Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Garcia EJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Galindo MK; Department of Pediatrics, University of Arizona, Tucson, AZ., Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, The Netherlands., Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hubbard G; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Karimov C; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Goj G; Vestische Kinder- und Jugendklinik, Datteln, Germany., Bend R; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Rath J; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Morrow MM; GeneDx, Gaithersburg, MD., Millan F; GeneDx, Gaithersburg, MD., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Kurki M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany. Electronic address: georgia.vasileiou@uk-erlangen.de.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100950. Date of Electronic Publication: 2023 Aug 05.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Autor: Kaur M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Blair J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Devkota B; Illumina Inc, San Diego, California, USA., Fortunato S; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Clark D; Natera, Inc., Austin, Texas, USA., Lawrence A; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kim J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Do W; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Semeo B; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Katz O; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mehta D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Yamamoto N; Division of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan., Schindler E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Al Rawi Z; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Wallace N; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Wilde JJ; Emugen Therapeutics, Woburn, Massachusetts, USA., McCallum J; Department of Cancer Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Liu J; Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Xu D; Hematologics Inc, Seattle, Washington, USA., Jackson M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rentas S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA., Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Zhe Z; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA., Allen B; Fullerton Genetics Center, Mission Health, Asheville, North Carolina, USA., Angula MA; Department of Pediatrics, NYU Langone Hospital-Long Island, Mineola, New York, USA., Anyane-Yeboa K; Pediatrics, Columbia University Irving Medical Center, New York, New York, USA., Argente J; Hospital Infantil Universitario Niño Jesús & Universidad Autónoma de Madrid, Madrid, Spain.; CIBER Fisiopatología de la obesidad y nutrición (CIBEROBN) and IMDEA Food Institute, Madrid, Spain., Arn PH; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, Florida, USA., Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada., Basel-Salmon L; Rabin Medical Center-Beilinson Hospital, Raphael Recanati Genetics Institute, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel., Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics & Dysmophology, Rady Children's Hospital San Diego, San Diego, California, USA., Bruegger D; Department of Otolaryngology-Head and Neck Surgery, University of Kansas School of Medicine, Kansas City, Kansas, USA., Ch'ng GS; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, Toronto, Ontario, Canada., Clark R; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA., Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Dave U; R & D MILS International India, Mumbai, India., DeBaere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia., Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA., Gripp KW; Nemours Children's Health, Wilmington, Delaware, USA., Greenstein R; University of Connecticut Health Center, Farmington, Connecticut, USA., Gupta N; Division of Genetics, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India., Heidenreich R; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA., Hoffman J; Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Jones KL; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego School of Medicine, San Diego, California, USA., Jones MC; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics & Dysmophology, Rady Children's Hospital San Diego, San Diego, California, USA., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran., Kogan J; Division of Genetics, Advocate Children's Hospital, Park Ridge, Illinois, USA., Lace B; Children's Clinical University Hospital, Riga, Latvia., Leroy J; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland., McDonald M; Duke University Medical Center, Durham, North Carolina, USA., Meagher K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Mendelsohn N; Complex Health Solutions, United Healthcare, Minneapolis, Minnesota, USA., Micule I; Children's Clinical University Hospital, Riga, Latvia., Moeschler J; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, New Hampshire, USA., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Ohashi K; Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada., Powell CM; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA., Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA., Raskin S; Genetika-Centro de aconselhamento e laboratório de genética, Curitiba, Brazil., Roeder E; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA., Rio M; Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France., Rope AF; Genome Medical, South San Francisco, California, USA., Sangha K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Scheuerle AE; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Schneider A; Department of Pediatrics and Oculogenetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA., Shalev S; Rappaport Faculty of Medicine, Technion, The Genetics Institute, Emek Medical Center, Afula, Haifa, Israel., Siu V; London Health Sciences Centre, London, Ontario, Canada.; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine, USA., Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, T.C. Thompson Children's Hospital, Chattanooga, Tennessee, USA., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia., Toimie J; Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Glasgow, UK., Toriello H; Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA., Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia., Young T; Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Research to Prevent Blindness Inc, New York, New York, USA., Loomes KM; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pipan M; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Behavioral Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Harrington AT; Center for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zackai E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Rajagopalan R; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Conlin L; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA., McEldrew D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Pie J; Laboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain., Ramos F; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario 'Lozano Blesa', Zaragoza, Spain.; Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain., Musio A; Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa., Kline AD; Greater Baltimore Medical Centre, Harvey Institute of Human Genetics, Baltimore, Maryland, USA., Izumi K; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Raible SE; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krantz ID; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2113-2131. Date of Electronic Publication: 2023 Jun 28.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Autor: van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Cornips MC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Hadders MA; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy., Ahimaz P; Division of Clinical Genetics, Department of Pediatrics, Columbia University, New York, NY., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University, New York, NY., Bellanger SA; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van den Boogaard MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France., Caylor RC; Greenwood Genetic Center, Greenwood, SC., Ciolfi A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., van Essen TAJ; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy., Javier MM; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Lonardo F; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Lai A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program and Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Lev D; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Lewis MES; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Lichty A; Greenwood Genetic Center, Greenwood, SC., Mannens MMAM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Maya I; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach-Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France., Michaud V; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France., Miele E; Department of Pediatric Hematology and Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy., Onesimo R; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center of Functional Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Prijoles E; Greenwood Genetic Center, Greenwood, SC., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Redon S; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rouault K; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Schieving J; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tenconi R; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy., Uguen K; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA., Yosovich K; Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, Israel., Yuskaitis CJ; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA., Zampino G; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada. Electronic address: sadikovic@lhsc.on.ca., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. Electronic address: m.alders@amsterdamumc.nl., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: r.oegema@umcutrecht.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 49-62. Date of Electronic Publication: 2022 Nov 01.

Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers-Danlos syndrome.

Autor: Ahimaz P; Department of Pediatrics, Division of Molecular Genetics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA., Kramer T; Department of Pediatrics, Division of Clinical Genetics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA., Swaroop P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Mitchell M; Medical Genetics Clinic, University of Alberta Hospital, Edmonton, Alberta, Canada., Hernan R; Department of Pediatrics, Division of Molecular Genetics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA., Anyane-Yeboa K; Department of Pediatrics, Division of Clinical Genetics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, New York, USA., Pereira EM; Department of Pediatrics, Division of Clinical Genetics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, New York, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3172-3183. Date of Electronic Publication: 2022 Aug 13.

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies.

Autor: Jain NG; Division of Pediatric Nephrology, Columbia University Irving Medical Center, New York, New York, USA.; Division of Pediatric Nephrology, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, New Jersey, USA., Ahram DF; Division of Nephrology, Columbia University Irving Medical Center, New York, New York, USA., Marasa M; Division of Nephrology, Columbia University Irving Medical Center, New York, New York, USA., Rehman AU; New York Genome Center, New York, New York, USA., May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA., Zacharoulis S; Division of Pediatric Hematology-Oncology, Columbia University Irving Medical Center, New York, New York, USA., Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Florido ME; Department of Genetics and Development, Columbia University Irving Medical Center, New York, New York, USA., Whittemore GB; Division of Nephrology, Columbia University Irving Medical Center, New York, New York, USA., Aggarwal VS; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Hargus G; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA., Anyane-Yeboa K; Department of Pediatrics Clinical Genetics, Columbia University Irving Medical Center, New York, New York, USA., D'Agati VD; Department of Pathology and Cell Biology, Renal Pathology Division, Columbia University Irving Medical Center, New York, New York, USA., Lin F; Division of Pediatric Nephrology, Columbia University Irving Medical Center, New York, New York, USA., Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Sanna-Cherchi S; Division of Nephrology, Columbia University Irving Medical Center, New York, New York, USA.

Publikováno v: Kidney international reports [Kidney Int Rep] 2022 Aug 07; Vol. 7 (10), pp. 2312-2316. Date of Electronic Publication: 2022 Aug 07 (Print Publication: 2022).