Genetic Advances in Craniofacial Malformations

Por Webb, Bryn D., Taub, Peter J.
Publicado no J Pediatr Genet (2016)

Mitochondrial translation defects and human disease

Por Webb, Bryn D., Diaz, George A., Prasun, Pankaj
Publicado no J Transl Genet Genom (2020)

Broad spectrum of clinical presentation in EARS2 beyond typical “leukoencephalopathy with thalamus and brain stem involvement”

Por Prasun, Pankaj, Mintz, Cassie, Cork, Emalyn, Naidich, Thomas P., Webb, Bryn D.
Publicado no J Neurol Sci (2019)

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

Por Fedick, Anastasia M, Jalas, Chaim, Swaroop, Ananya, Smouha, Eric E, Webb, Bryn D
Publicado no Appl Clin Genet (2016)

Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay

Por Webb, Bryn D., Scharf, Rebecca J., Spear, Emily A., Edelmann, Lisa J., Stroustrup, Annemarie
Publicado no Expert Rev Mol Diagn (2014)

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes

Por Rucker, Janet C., Webb, Bryn D., Frempong, Tamiesha, Gaspar, Harald, Naidich, Thomas P., Jabs, Ethylin Wang
Publicado em 2014

Mirror Movements Identified in Patients with Moebius Syndrome

Por Webb, Bryn D., Frempong, Tamiesha, Naidich, Thomas P., Gaspar, Harald, Jabs, Ethylin Wang, Rucker, Janet C.
Publicado em 2014

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome

Por Webb, Bryn D., Metikala, Sanjeeva, Wheeler, Patricia G., Sherpa, Mingma D., Houten, Sander M., Horb, Marko E., Schadt, Eric E.
Publicado no Hum Mutat (2017)

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

Por Edvardson, Simon, Yi, Jae Kyo, Jalas, Chaim, Xu, Ruijuan, Webb, Bryn D, Snider, Justin, Fedick, Anastasia, Kleinman, Elisheva, Treff, Nathan R, Mao, Cungui, Elpeleg, Orly
Publicado no J Med Genet (2016)

Novel, Compound Heterozygous, Single Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

Por Webb, Bryn D., Wheeler, Patricia G., Hagen, Jacob J., Cohen, Ninette, Linderman, Michael D., Diaz, George A., Naidich, Thomas P., Rodenburg, Richard J., Houten, Sander M., Schadt, Eric E.
Publicado no Hum Mutat (2015)

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Por Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna
Publicado no Eur J Hum Genet (2019)

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Por Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna
Publicado no Eur J Hum Genet (2019)

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

Por Wang, Jinlian, Liao, Jun, Zhang, Jinglan, Cheng, Wei-Yi, Hakenberg, Jörg, Ma, Meng, Webb, Bryn D., Ramasamudram-chakravarthi, Rajasekar, Karger, Lisa, Mehta, Lakshmi, Kornreich, Ruth, Diaz, George A., Li, Shuyu, Edelmann, Lisa, Chen, Rong
Publicado no Genome Med (2015)

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry

Por Sadeghi, Neda, Hutchinson, Elizabeth, Van Ryzin, Carol, FitzGibbon, Edmond J, Butman, John A, Webb, Bryn D, Facio, Flavia, Brooks, Brian P, Collins, Francis S, Jabs, Ethylin Wang, Engle, Elizabeth C, Manoli, Irini, Pierpaoli, Carlo
Publicado no Brain Commun (2020)

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)

Por Crawford, Gregory E., Holt, Ingeborg E., Whittle, James, Webb, Bryn D., Tai, Denise, Davis, Sean, Margulies, Elliott H., Chen, YiDong, Bernat, John A., Ginsburg, David, Zhou, Daixing, Luo, Shujun, Vasicek, Thomas J., Daly, Mark J., Wolfsberg, Tyra G., Collins, Francis S.
Publicado em 2006

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1(−/−) Mice

Por Webb, Bryn D., Shaaban, Sherin, Gaspar, Harald, Cunha, Luis F., Schubert, Christian R., Hao, Ke, Robson, Caroline D., Chan, Wai-Man, Andrews, Caroline, MacKinnon, Sarah, Oystreck, Darren T., Hunter, David G., Iacovelli, Anthony J., Ye, Xiaoqian, Camminady, Anne, Engle, Elizabeth C., Jabs, Ethylin Wang
Publicado em 2012

Cover

Por Akler, Gidon, Birch, Ashley H., Schreiber‐Agus, Nicole, Cai, Xiaoqiang, Cai, Guiqing, Shi, Lisong, Yu, Chunli, Larmore, Anastasia M., Mendiratta‐Vij, Geetu, Elkhoury, Lama, Dillon, Mitchell W., Zhu, Jun, Mclellan, Andrew S., Suer, Funda E., Webb, Bryn D., Schadt, Eric E., Kornreich, Ruth, Edelmann, Lisa
Publicado no Mol Genet Genomic Med (2020)

Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

Por Akler, Gidon, Birch, Ashley H., Schreiber‐Agus, Nicole, Cai, Xiaoqiang, Cai, Guiqing, Shi, Lisong, Yu, Chunli, Larmore, Anastasia M., Mendiratta‐Vij, Geetu, Elkhoury, Lama, Dillon, Mitchell W., Zhu, Jun, Mclellan, Andrew S., Suer, Funda E., Webb, Bryn D., Schadt, Eric E., Kornreich, Ruth, Edelmann, Lisa
Publicado no Mol Genet Genomic Med (2019)

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Por Chew, Sheena, Balasubramanian, Ravikumar, Chan, Wai-Man, Kang, Peter B., Andrews, Caroline, Webb, Bryn D., MacKinnon, Sarah E., Oystreck, Darren T., Rankin, Jessica, Crawford, Thomas O., Geraghty, Michael, Pomeroy, Scott L., Crowley, William F., Jabs, Ethylin Wang, Hunter, David G., Grant, Patricia E., Engle, Elizabeth C.
Publicado em 2013

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

Por Gruber, Conor N., Calis, Jorg J.A., Buta, Sofija, Evrony, Gilad, Martin, Jerome C., Uhl, Skyler A., Caron, Rachel, Jarchin, Lauren, Dunkin, David, Phelps, Robert, Webb, Bryn D., Saland, Jeffrey M., Merad, Miriam, Orange, Jordan S., Mace, Emily M., Rosenberg, Brad R., Gelb, Bruce D., Bogunovic, Dusan
Publicado no Immunity (2020)