ArticleEuropean journal of human genetics : EJHG2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
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Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
88 authors.
Dana E Layo-Carris *Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-7009-0652
Emily E Lubin *Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-6277-1156
Annabel K Sangree *Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-0298-1856
Kelly J ClarkDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Emily L DurhamDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Elizabeth M GonzalezDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sarina SmithDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Rajesh AngireddyDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-9215-2209
Xiao Min WangDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Erin WeissDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Annick ToutainService de Génétique, CHU de Tours, Tours, France.
Roberto Mendoza-LondonoDivision of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-3542-8106
Lucie DupuisDivision of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-6068-8199
Nadirah DamsehDivision of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Danita VelascoChildren's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.
Irene ValenzuelaDepartment of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.ORCID http://orcid.org/0000-0003-2350-6058
Marta Codina-SolàDepartment of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.
Catherine ZiatsShodair Children's Hospital, Helena, MT, USA.
Jaclyn HaveShodair Children's Hospital, Helena, MT, USA.
Katie ClarksonGreenwood Genetic Center, Greenwood, SC, USA.ORCID http://orcid.org/0000-0003-0941-5416
Dora SteelUCL Great Ormond Street Institute of Child Health, London, UK.
Manju KurianUCL Great Ormond Street Institute of Child Health, London, UK.
Katy BarwickUCL Great Ormond Street Institute of Child Health, London, UK.
Diana CarrascoDepartment of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.
Aditi I DagliOrlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.
M J M NowaczykMcMaster University Medical Centre, Hamilton, ON, Canada.
Miroslava HančárováCharles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Šárka BendováCharles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Darina PrchalovaCharles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Zdeněk SedláčekCharles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.ORCID http://orcid.org/0000-0001-6575-9163
Alica BaxováCharles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Catherine Bearce NowakDivision of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
Jessica DouglasHarvard Medical School, Boston, MA, USA.
Wendy K ChungHarvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3438-5685
Nicola LongoUniversity of Utah, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0002-3677-1216
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID http://orcid.org/0000-0001-6127-6308
Chiara KlöcknerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Luisa AverdunkInstitute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.
Dagmar WieczorekInstitute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.
Ilona KreyInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Christiane ZweierInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.ORCID http://orcid.org/0000-0001-8002-2020
Andre ReisInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.ORCID http://orcid.org/0000-0002-6301-6363
Tugce BalciUniversity of Western Ontario, London, ON, Canada.ORCID http://orcid.org/0000-0002-5409-8387
Marleen SimonDepartment of Genetics, University Medical Center, Utrecht, Netherlands.
Hester Y KroesDepartment of Genetics, University Medical Center, Utrecht, Netherlands.
Antje WiesenerDepartment of Genetics, University Medical Center, Utrecht, Netherlands.
Georgia VasileiouDepartment of Genetics, University Medical Center, Utrecht, Netherlands.
Nikolaos M MarinakisLaboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.ORCID http://orcid.org/0000-0002-7078-3253
Danai VeltraLaboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.ORCID http://orcid.org/0000-0002-6548-0928
Christalena SofocleousLaboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.ORCID http://orcid.org/0000-0002-3205-4287
Konstantina KosmaLaboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Joanne Traeger SynodinosLaboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.ORCID http://orcid.org/0000-0002-1860-5628
Konstantinos A VoudrisSecond Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.
Marie-Laure VuillaumeService de Génétique, CHU de Tours, Tours, France.ORCID http://orcid.org/0000-0003-1080-972X
Paul GueguenService de Génétique, CHU de Tours, Tours, France.
Nicolas DeriveLaboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.
Estelle ColinService de Génétique Médicale, CHU d'Angers, Angers, France.ORCID http://orcid.org/0000-0001-7913-3938
Clarisse BattaultService de Génétique Médicale, CHU d'Angers, Angers, France.
Billie AuUniversity of Calgary, Calgary, AB, Canada.
Martin DelatyckiVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Mathew WallisTasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.ORCID http://orcid.org/0000-0002-5441-1732
Lyndon GallacherVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.ORCID http://orcid.org/0000-0003-2245-9034
Fatma MajdoubApplied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.ORCID http://orcid.org/0009-0001-1175-644X
Noor SmalApplied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.ORCID http://orcid.org/0000-0003-4335-1583
Sarah WeckhuysenApplied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.
An-Sofie SchoonjansDepartment of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
R Frank KooyCenter of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.ORCID http://orcid.org/0000-0003-2024-0485
Marije MeuwissenDepartment of Pediatrics, Duke University Hospital, Durham, NC, USA.
Benjamin T CocanougherDepartment of Pediatrics, Duke University Hospital, Durham, NC, USA.
Kathryn TaylorDivision of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.
Carolyn E PizoliDivision of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.
Marie T McDonaldDivision of Medical Genetics, Duke University Hospital, Durham, NC, USA.
Philip JamesDMG Children's Rehabilitative Services, Phoenix, AZ, USA.
Elizabeth R RoederDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.
Rebecca LittlejohnDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.
Nicholas A BorjaJohn T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0002-9199-9096
Willa ThorsonJohn T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Kristine KingGenetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.
Radka StoevaMedical genetics department, Centre Hospitalier, Le Mans, France.ORCID http://orcid.org/0000-0002-6383-8201
Manon SuerinkDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.ORCID http://orcid.org/0000-0001-7058-6973
Esther NibbelingDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.ORCID http://orcid.org/0000-0001-8818-3232
Stephanie BaskinDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.
Gwenaël L E GuyaderService de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.ORCID http://orcid.org/0000-0003-2847-8121
Julie KaplanNemours Children's Health, Wilmington, DE, USA.
Candace MussNemours Children's Health, Wilmington, DE, USA.
Deanna Alexis CarereGeneDx, Gaithersburg, MD, USA.
Elizabeth J K BhojDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.ORCID http://orcid.org/0000-0001-5748-3507
Laura M BryantDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Funding
Stimulating Access to Research in Residency (StARR) - NHLBIR38HL143612 · NHLBI · DUKE UNIVERSITY · PI Mai ElMallah, David H. Harpole · 2018 to 2026
$2.6MDe novo mutations in replication-independent histone genes and an unexplored class of rare pediatric mendelian syndromesF30HD112125 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI Emily Elizabeth Lubin · 2024 to 2026
$102kNHLBI NIH HHS R38 HL143612NICHD NIH HHS F30 HD112125
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