Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
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
Published in Journal of medical genetics (01.06.2016)
Published in Journal of medical genetics (01.06.2016)
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An algorithm to identify patients aged 0-3 with rare genetic disorders
Webb, Bryn D, Lau, Lisa Y, Tsevdos, Despina, Shewcraft, Ryan A, Corrigan, David, Shi, Lisong, Lee, Seungwoo, Tyler, Jonathan, Li, Shilong, Wang, Zichen, Stolovitzky, Gustavo, Edelmann, Lisa, Chen, Rong, Schadt, Eric E, Li, Li
Published in Orphanet journal of rare diseases (02.05.2024)
Published in Orphanet journal of rare diseases (02.05.2024)
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A framework for the evaluation of patients with congenital facial weakness
Webb, Bryn D, Manoli, Irini, Engle, Elizabeth C, Jabs, Ethylin W
Published in Orphanet journal of rare diseases (07.04.2021)
Published in Orphanet journal of rare diseases (07.04.2021)
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Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach
Kornreich, Davida, Mitchell, Adele A., Webb, Bryn D., Cristian, Ingrid, Jabs, Ethylin Wang
Published in The Cleft palate-craniofacial journal (01.01.2016)
Published in The Cleft palate-craniofacial journal (01.01.2016)
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Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
Webb, Bryn D, Nowinski, Sara M, Solmonson, Ashley, Ganesh, Jaya, Rodenburg, Richard J, Leandro, Joao, Evans, Anthony, Vu, Hieu S, Naidich, Thomas P, Gelb, Bruce D, DeBerardinis, Ralph J, Rutter, Jared, Houten, Sander M
Published in eLife (07.03.2023)
Published in eLife (07.03.2023)
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HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice
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
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)
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
Published in Genome research (01.01.2006)
Published in Genome research (01.01.2006)
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Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients
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
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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Journal Article
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
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
Published in Immunity (Cambridge, Mass.) (15.09.2020)
Published in Immunity (Cambridge, Mass.) (15.09.2020)
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Journal Article
Inability to move one's face dampens facial expression perception
Japee, Shruti, Jordan, Jessica, Licht, Judith, Lokey, Savannah, Chen, Gang, Snow, Joseph, Jabs, Ethylin Wang, Webb, Bryn D, Engle, Elizabeth C, Manoli, Irini, Baker, Chris, Ungerleider, Leslie G
Published in Cortex (01.12.2023)
Published in Cortex (01.12.2023)
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Journal Article
Novel biallelic variants expand the phenotype of NAA20‐related syndrome
D'Onofrio, Gianluca, Cuccurullo, Claudia, Larsen, Silje Kathrine, Severino, Mariasavina, D'Amico, Alessandra, Brønstad, Kirsten, AlOwain, Mohammed, Morrison, Jennifer L., Wheeler, Patricia G., Webb, Bryn D., Alfalah, Abdullah, Iacomino, Michele, Uva, Paolo, Coppola, Antonietta, Merla, Giuseppe, Salpietro, Vincenzo Damiano, Zara, Federico, Striano, Pasquale, Accogli, Andrea, Arnesen, Thomas, Bilo, Leonilda
Published in Clinical genetics (01.09.2023)
Published in Clinical genetics (01.09.2023)
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Journal Article
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly
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
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
CHEW, Sheena, BALASUBRAMANIAN, Ravikumar, GERAGHTY, Michael, POMEROY, Scott L, CROWLEY, William F, JABS, Ethylin Wang, HUNTER, David G, GRANT, Patricia E, ENGLE, Elizabeth C, CHAN, Wai-Man, KANG, Peter B, ANDREWS, Caroline, WEBB, Bryn D, MACKINNON, Sarah E, OYSTRECK, Darren T, RANKIN, Jessica, CRAWFORD, Thomas O
Published in Brain (London, England : 1878) (01.02.2013)
Published in Brain (London, England : 1878) (01.02.2013)
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Journal Article
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome
Gates, Ryan W, Webb, Bryn D, Stevenson, David A, Jabs, Ethylin Wang, DeFilippo, Colette, Ruzhnikov, Maura R Z, Tise, Christina G
Published in American journal of medical genetics. Part A (01.11.2023)
Published in American journal of medical genetics. Part A (01.11.2023)
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Journal Article
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness
Liberton, Denise K, Almpani, Konstantinia, Mishra, Rashmi, Bassim, Carol, Van Ryzin, Carol, On Behalf Of The Moebius Syndrome Research Consortium, Webb, Bryn D, Jabs, Ethylin Wang, Engle, Elizabeth C, Collins, Francis S, Manoli, Irini, Lee, Janice S
Published in International journal of environmental research and public health (13.05.2024)
Published in International journal of environmental research and public health (13.05.2024)
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