BrynDionnaWebbMD

PubMed

• An algorithm to identify patients aged 0-3 with rare genetic disorders.
  Lisa Y Lau, Ryan A Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E ...> ;Orphanet Journal of Rare Diseases. 2024 May 2
• Inability to move one's face dampens facial expression perception.
  Shruti Japee, Jessica Jordan, Judith Licht, Savannah Lokey, , Gang Chen, Joseph Snow, Ethylin Wang Jabs, Bryn D Webb, Elizabeth C Engle, Irini Manoli, Chris Baker, Les...> ;Cortex; a Journal Devoted to the Study of the Nervous System and Behavior. 2023 Dec 1
• Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
  Ryan W Gates, Bryn D Webb, David A Stevenson, Ethylin Wang Jabs, Colette DeFilippo, Maura R Z Ruzhnikov, Christina G Tise> ;American Journal of Medical Genetics. Part A. 2023 Nov 1
• 5 citations
  Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
  Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Boer, Sarah J Garnai, Brenda J Barry, Tammy Ray, Michael Kosicki, Caroline D Robson, Zhon...> ;Nature Genetics. 2023 Jul 1
• 2 citations
  Recessive pathogenic variants incause combined oxidative phosphorylation deficiency.
  Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBer...> ;Elife. 2023 Mar 7
• 11 citations
  TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Human Genetics. 2021 Oct 15
• 10 citations
  Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
  Jennifer Morrison, Norah K. Altuwaijri, Kirsten Brønstad, Henriette Aksnes, Hessa S. Alsaif, Anthony Evans, Mais Hashem, Patricia G. Wheeler, Bryn D. Webb, Fowzan S. A...> ;Genetics in Medicine. 2021 Jul 6
• Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
  Bryn D. Webb, Anthony Evans, Thomas P. Naidich, Lynne M. Bird, Sumit Parikh, Meilin Fernandez Garcia, Lindsay B. Henderson, Francisca Millan, Yue Si, Kristen J. Brenna...> ;Human Mutation. 2021 Apr 15
• 7 citations
  Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.
  Bryn D. Webb, Hilary Hotchkiss, Pankaj Prasun, Bruce D. Gelb, Lisa M. Satlin> ;European Journal of Human Genetics. 2021 Apr 12
• 1 citations
  A framework for the evaluation of patients with congenital facial weakness.
  Bryn D. Webb, Irini Manoli, Elizabeth C. Engle, Ethylin Wang Jabs> ;Orphanet Journal of Rare Diseases. 2021 Apr 7
• 4 citations
  Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
  Tanya J. Lehky, Reversa Joseph, Camilo Toro, Tianxia Wu, Carol Van Ryzin, Andrea L. Gropman, Flavia M. Facio, Bryn D. Webb, Ethylin Wang Jabs, Brenda S Barry, Elizabet...> ;Muscle & Nerve. 2021 Jan 19
• 53 citations
  Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
  Conor Gruber, Jorg J.A. Calis, Sofija Buta, Gilad D. Evrony, Jerome Martin, Skyler Uhl, Rachel Caron, Lauren Jarchin, David Dunkin, Robert G. Phelps, Bryn D. Webb, Jef...> ;Immunity. 2020 Sep 15
• 16 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Brain. 2020 Aug 1
• 12 citations
  Mitochondrial translation defects and human disease.
  Bryn D. Webb, George A. Diaz, Pankaj Prasun> ;Journal of Translational Genetics and Genomics. 2020 May 23
• 9 citations
  Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects
  Ana S. A. Cohen, Christopher Simotas, Bryn D. Webb, Huanzhi Shi, Wahab A. Khan, Lisa Edelmann, Stuart A. Scott, Ram Singh> ;American Journal of Medical Genetics. Part A. 2020 Mar 5
• 6 citations
  Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.
  Neda Sadeghi, Elizabeth B. Hutchinson, Carol Van Ryzin, Edmond J. FitzGibbon, John A. Butman, Bryn D. Webb, Flavia M. Facio, Brian P. Brooks, Francis S. Collins, Ethyl...> ;Brain Communications. 2020 Jan 1
• 3 citations
  Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".
  Pankaj Prasun, Cassie Mintz, Emalyn E Cork, Thomas P. Naidich, Bryn D. Webb> ;Journal of the Neurological Sciences. 2019 Nov 15
• DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
  Urreizti, R.,Mayer, K.,Evrony, G. D.,Said, E.,Castilla-Vallmanya, L.,Cody, NAL.,Plasencia, G.,Gelb, B. D.,Grinberg, D.,Brinkmann, U.,Webb, B. D.,Balcells, S.> ;Eur. J. Hum. Genet.. 2019 Mar 17
• 20 citations
  Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) ...
  Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marl...> ;American Journal of Human Genetics. 2018 Apr 5
• 18 citations
  Clinical, biochemical and genetic features associated with VARS2 -related mitochondrial disease
  Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, Bryn D. Webb, Robert McFarland, Zofia M.A. Chrzanowska-Lightowlers, Langping He, Ewa Skorupa, Isabella Moroni, Anna...> ;Human Mutation. 2018 Feb 7
• 22 citations
  Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
  Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins, Carlos E. Speck-Martins, David R. FitzPatrick, Leah Fleming, Richard J. Redett, Andres Dufke, Gunnar Houge, Jeske J.T. ...> ;American Journal of Medical Genetics. Part A. 2017 Aug 4
• 25 citations
  Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
  Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Ri...> ;American Journal of Human Genetics. 2017 Aug 3
• 58 citations
  A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
  Di Gioia Sa, Connors S, Nori Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, de Macena Sobreira Nl, Wai-Man Chan, Bryn D. Webb, Caroli...> ;Nature Communications. 2017 Jul 6
• 18 citations
  Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
  Bryn D. Webb, Sanjeeva Metikala, Patricia G. Wheeler, Mingma D. Sherpa, Sander M. Houten, Marko E. Horb, Eric E. Schadt> ;Human Mutation. 2017 Apr 1
• 18 citations
  Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
  Lisong Shi, Bryn D. Webb, Ashley H Birch, L. Elkhoury, J. McCarthy, Xiaoqiang Cai, Kimihiko Oishi, Lakshmi Mehta, George A. Diaz, Lisa Edelmann, Ruth Kornreich> ;Clinical Genetics. 2017 Apr 1
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