GBradleySchaeferMD

PubMed

• 8 citations
  De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
  Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chl...> ;NPJ Genomic Medicine. 2021 Dec 7
• Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
  Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nou...> ;NPJ Genomic Medicine. 2021 Nov 24
• 11 citations
  Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
  Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nou...> ;NPJ Genomic Medicine. 2021 Nov 8
• 10 citations
  Molecular Dysregulation in Autism Spectrum Disorder
  Pritmohinder S. Gill, Jeffery L Clothier, Aravindhan Veerapandiyan, Harsh Dweep, Patricia Porter-Gill, G. Bradley Schaefer> ;Journal of Personalized Medicine. 2021 Aug 27
• 4 citations
  The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
  Ryan K Thorpe, Hela Azaiez, Peina Wu, Qiuju Wang, Lei Xu, Pu Dai, Tao Yang, G. Bradley Schaefer, B Robert Peters, Kenny H. Chan, Krista Sondergaard Schatz, Joann Bodur...> ;Human Genetics. 2021 Aug 23
• 11 citations
  Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children’s Hospital
  Pritmohinder S. Gill, Feliciano B. Yu, Patricia Porter-Gill, Bobby L. Boyanton, Judy C Allen, Jason E. Farrar, Aravindhan Veerapandiyan, Kevin Bielamowicz, Elizabeth A...> ;Journal of Personalized Medicine. 2021 May 11
• 1 citations
  Pathogenic in-Frame Variants in: Expanding the Genetic Landscape ofAssociated Disease.
  Jennifer C Wong, Kameryn M Butler, Lindsey Shapiro, Jacquelyn T Thelin, Kari A Mattison, Kathryn B Garber, Paula C Goldenberg, Shobana Kubendran, G Bradley Schaefer, A...> ;Frontiers in Pharmacology. 2021 Jan 1
• 2 citations
  Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
  Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan H. Baugh, Amber Begtrup, Caleb Bupp, Bert Callewaert...> ;Genetics in Medicine. 2021 Feb 1
• 9 citations
  De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
  Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah R Green, Koen L.I. van Gassen, ...> ;Genetics in Medicine. 2020 May 5
• 1 citations
  Rates of diagnostic genetic testing in a tertiary ocular genetics clinic.
  R. Scott Lowery, John R. Dehnel, G. Bradley Schaefer, Sami H. Uwaydat> ;Ophthalmic Genetics. 2020 Apr 27
• 30 citations
  Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
  Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Wais...> ;The Journal of Clinical Investigation. 2020 Mar 2
• 46 citations
  Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
  David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Sa...> ;American Journal of Human Genetics. 2020 Feb 6
• 35 citations
  De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
  Hanneke A. Haijes, Maria J.E. Koster, Holger Rehmann, Dong Li, Hakon Hakonarson, Gerarda Cappuccio, Miroslava Hancarova, Daphné Lehalle, Willie Reardon, G. Bradley Sch...> ;American Journal of Human Genetics. 2019 Aug 1
• 20 citations
  Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bi...> ;Genetics in Medicine. 2019 Apr 1
• 20 citations
  The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK
  Solmi Cheon, Kiran J Kaur, Nadine Nijem, Islam Oguz Tuncay, Pooja Kumar, Milan Dean, Jane Juusola, Maria J. Guillen-Sacoto, Emma Bedoukian, Lynne Ierardi-Curto, Paige ...> ;Proceedings of the National Academy of Sciences of the United States of America. 2019 Feb 26
• 6 citations
  Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
  Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen, Erica Gerkes, Rolph Pfundt, Susan M White, Nava Shaul-Lotan, Lori Carpenter,...> ;American Journal of Human Genetics. 2018 Dec 6
• 6 citations
  Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
  Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen, Erica Gerkes, Rolph Pfundt, Susan M White, Nava Shaul-Lotan, Lori Carpenter,...> ;American Journal of Human Genetics. 2018 Nov 1
• 30 citations
  De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
  Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaef...> ;European Journal of Human Genetics. 2018 Jun 20
• Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlat...
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary Bellus, Lynne M. ...> ;Genetics in Medicine. 2018 Jan 1
• 23 citations
  Erythropoietin and Brain Magnetic Resonance Imaging Findings in Hypoxic-Ischemic Encephalopathy: Volume of Acute Brain Injury and 1-Year Neurodevelopmental Outcome.
  Sarah B. Mulkey, Raghu H. Ramakrishnaiah, Robert C. McKinstry, Taeun Chang, Amit M. Mathur, Dennis E. Mayock, Krisa P. Van Meurs, G. Bradley Schaefer, Chunqiao Luo, Sh...> ;The Journal of Pediatrics. 2017 Jul 1
• A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.
  Joshua S. Hardin, G. Bradley Schaefer, Ahmed Sallam, M. Kathryn Williams, Sami H. Uwaydat> ;Ophthalmic Genetics. 2017 May 8
• 15 citations
  Erratum: Lessons from a pair of siblings with BPAN
  Yuri A. Zarate, Julie R. Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G. Bradley Schaefer, Michael C. Kruer> ;European Journal of Human Genetics. 2016 Jul 1
• 7 citations
  Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
  Elizabeth A. Sellars, Bonnie Sullivan, G. Bradley Schaefer> ;Clinical Case Reports. 2016 Jun 10
• In memory of Murray Feingold (1930-2015).
  G. Bradley Schaefer, Catherine Nowak, Ann Haskins Olney> ;American Journal of Medical Genetics. Part A. 2016 May 5
• 50 citations
  A specific mutation in TBL1XR1 causes Pierpont syndrome
  Charlotte A Heinen, Aldo Jongejan, Peter J. Watson, B. Redeker, Anita Boelen, Olga Boudzovitch-Surovtseva, Francesca Forzano, Roel Hordijk, Richard I. Kelley, Ann Hask...> ;Journal of Medical Genetics. 2016 May 1
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