Genetic Advances in Craniofacial Malformations

av Webb, Bryn D., Taub, Peter J.
I publikationen J Pediatr Genet (2016)

Mitochondrial translation defects and human disease

av Webb, Bryn D., Diaz, George A., Prasun, Pankaj
I publikationen J Transl Genet Genom (2020)

A framework for the evaluation of patients with congenital facial weakness

av Webb, Bryn D., Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin W.
I publikationen Orphanet J Rare Dis (2021)

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

av Prasun, Pankaj, Mintz, Cassie, Cork, Emalyn, Naidich, Thomas P., Webb, Bryn D.
I publikationen J Neurol Sci (2019)

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

av Fedick, Anastasia M, Jalas, Chaim, Swaroop, Ananya, Smouha, Eric E, Webb, Bryn D
I publikationen Appl Clin Genet (2016)

Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay

av Webb, Bryn D., Scharf, Rebecca J., Spear, Emily A., Edelmann, Lisa J., Stroustrup, Annemarie
I publikationen Expert Rev Mol Diagn (2014)

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

av Rucker, Janet C., Webb, Bryn D., Frempong, Tamiesha, Gaspar, Harald, Naidich, Thomas P., Jabs, Ethylin Wang
Publicerad 2014

Mirror Movements Identified in Patients with Moebius Syndrome

av Webb, Bryn D., Frempong, Tamiesha, Naidich, Thomas P., Gaspar, Harald, Jabs, Ethylin Wang, Rucker, Janet C.
Publicerad 2014

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

av Webb, Bryn D., Metikala, Sanjeeva, Wheeler, Patricia G., Sherpa, Mingma D., Houten, Sander M., Horb, Marko E., Schadt, Eric E.
I publikationen Hum Mutat (2017)

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

av 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
I publikationen J Med Genet (2016)

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

av 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.
I publikationen Hum Mutat (2015)

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

av 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
I publikationen Eur J Hum Genet (2019)

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

av 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
I publikationen Eur J Hum Genet (2019)

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

av 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
I publikationen Genome Med (2015)

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

av 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
I publikationen Brain Commun (2020)

Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

av Webb, Bryn D., Evans, Anthony, Naidich, Thomas P., Bird, Lynne, Parikh, Sumit, Garcia, Meilin Fernandez, Henderson, Lindsay B., Millan, Francisca, Si, Yue, Brennand, Kristen J., Hung, Peter, Rucker, Janet C., Wheeler, Patricia G., Schadt, Eric E.
I publikationen Hum Mutat (2021)

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

av 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.
Publicerad 2006

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

av 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
Publicerad 2012

Cover

av 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
I publikationen Mol Genet Genomic Med (2020)

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

av 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
I publikationen Mol Genet Genomic Med (2019)