Publications by authors named "Bryn D Webb"

Claim this Profile
W
What Is the Nature and Scope of Physicians' Duties of Care to Patients Without a Diagnosis?
April Hall, Bryn D Webb, M Stephen Meyn

AMA J Ethics· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, Aida M Bertoli-Avella, Marta Gómez-Chiari, Bryn D Webb

Brain Commun· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
Konstantinia Almpani, Katelin R Devine, Denise K Liberton, Rashmi Mishra, Carol Bassim, Bryn D Webb

Cleft Palate Craniofac J· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.
Lisa M Karger, Bryn D Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta

Am J Med Genet A· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Systematic phenotype and genotype characterization of Moebius syndrome.
Bryn D Webb, Julie A Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J Barry

Genet Med Open· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25.
Sophia E Salemi, Erdene Baljinnyam, Norman N Liu, Ruiqi Hu, Samuele G Marro, Bryn D Webb

Stem Cell Res· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla, Bryn D Webb

Am J Hum Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative Patients.
Jadin M Heilmann, April L Hall, Janet M Legare, Gregory M Rice, Kristin A Seaborg, Bryn D Webb

WMJ· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An algorithm to identify patients aged 0-3 with rare genetic disorders.
Bryn D Webb, Lisa Y Lau, Despina Tsevdos, Ryan A Shewcraft, David Corrigan

Orphanet J Rare Dis· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
Denise K Liberton, Konstantinia Almpani, Rashmi Mishra, Carol Bassim, Carol Van Ryzin, Bryn D Webb

Int J Environ Res Public Health· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Inability to move one's face dampens facial expression perception.
Shruti Japee, Jessica Jordan, Judith Licht, Savannah Lokey, , Bryn D Webb

Cortex· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
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

Am J Med Genet A· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Gianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, Mariasavina Severino, Alessandra D'Amico, Bryn D Webb

Clin Genet· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
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

Nat Genet· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.
Pankaj Prasun, Anthony Evans, Emalyn Cork, Sander M Houten, Bryn D Webb

Am J Med Genet A· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recessive pathogenic variants in cause combined oxidative phosphorylation deficiency.
Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg

Elife· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Mary C Whitman, Brenda J Barry, Caroline D Robson, Flavia M Facio, Carol Van Ryzin, Bryn D Webb

Hum Genet· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
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, Bryn D Webb

Genet Med· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.
Bryn D Webb, Hilary Hotchkiss, Pankaj Prasun, Bruce D Gelb, Lisa Satlin

Eur J Hum Genet· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
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

Hum Mutat· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Tanya Lehky, Reversa Joseph, Camilo Toro, Tianxia Wu, Carol Van Ryzin, Bryn D Webb

Muscle Nerve· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A framework for the evaluation of patients with congenital facial weakness.
Bryn D Webb, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs

Orphanet J Rare Dis· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Conor N Gruber, Jorg J A Calis, Sofija Buta, Gilad Evrony, Jerome C Martin, Bryn D Webb

Immunity· September 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Bryn D Webb

Brain· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mitochondrial translation defects and human disease.
Bryn D Webb, George A Diaz, Pankaj Prasun

J Transl Genet Genom· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis