Search Results - Webb, Bryn D.

Genetic Advances in Craniofacial Malformations by Webb, Bryn D., Taub, Peter J.

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Mitochondrial translation defects and human disease by Webb, Bryn D., Diaz, George A., Prasun, Pankaj

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A framework for the evaluation of patients with congenital facial weakness by Webb, Bryn D., Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin W.

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Broad spectrum of clinical presentation in EARS2 beyond typical “leukoencephalopathy with thalamus and brain stem involvement” by Prasun, Pankaj, Mintz, Cassie, Cork, Emalyn, Naidich, Thomas P., Webb, Bryn D.

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Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis by Webb, Bryn D., Hotchkiss, Hilary, Prasun, Pankaj, Gelb, Bruce D., Satlin, Lisa

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Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population by Fedick, Anastasia M, Jalas, Chaim, Swaroop, Ananya, Smouha, Eric E, Webb, Bryn D

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Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay by Webb, Bryn D., Scharf, Rebecca J., Spear, Emily A., Edelmann, Lisa J., Stroustrup, Annemarie

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Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes by Rucker, Janet C., Webb, Bryn D., Frempong, Tamiesha, Gaspar, Harald, Naidich, Thomas P., Jabs, Ethylin Wang

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Mirror Movements Identified in Patients with Moebius Syndrome by Webb, Bryn D., Frempong, Tamiesha, Naidich, Thomas P., Gaspar, Harald, Jabs, Ethylin Wang, Rucker, Janet C.

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Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome by Webb, Bryn D., Metikala, Sanjeeva, Wheeler, Patricia G., Sherpa, Mingma D., Houten, Sander M., Horb, Marko E., Schadt, Eric E.

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

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Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly by Morrison, Jennifer, Altuwaijri, Norah K., Brønstad, Kirsten, Aksnes, Henriette, Alsaif, Hessa S., Evans, Anthony, Hashem, Mais, Wheeler, Patricia G., Webb, Bryn D., Alkuraya, Fowzan S., Arnesen, Thomas

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

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

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

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DIFFERENTIATING MOEBIUS SYNDROME AND OTHER CONGENITAL FACIAL WEAKNESS DISORDERS WITH ELECTRODIAGNOSTIC STUDIES by LEHKY, TANYA, JOSEPH, REVERSA, TORO, CAMILO, WU, TIANXIA, VAN RYZIN, CAROL, GROPMAN, ANDREA, FACIO, FLAVIA M., WEBB, BRYN D., JABS, ETHYLIN WANG, BARRY, BRENDA S., ENGLE, ELIZABETH C., COLLINS, FRANCIS S., MANOLI, IRINI

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

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

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

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

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