Webb BD - Search Results

1

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L. Webb BD, et al. Clin Genet. 2014 Aug;86(2):155-60. doi: 10.1111/cge.12247. Epub 2013 Sep 2. Clin Genet. 2014. PMID: 23927549

2

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. Webb BD, et al. Am J Hum Genet. 2012 Jul 13;91(1):171-9. doi: 10.1016/j.ajhg.2012.05.018. Epub 2012 Jul 5. Am J Hum Genet. 2012. PMID: 22770981 Free PMC article.

3

Evaluation of the Affymetrix CytoScan(®) Dx Assay for developmental delay.

Webb BD, Scharf RJ, Spear EA, Edelmann LJ, Stroustrup A. Webb BD, et al. Expert Rev Mol Diagn. 2015 Feb;15(2):185-92. doi: 10.1586/14737159.2015.975213. Epub 2014 Oct 28. Expert Rev Mol Diagn. 2015. PMID: 25350348 Free PMC article.

4

Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.

Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE. Webb BD, et al. Hum Mutat. 2015 Jun;36(6):587-92. doi: 10.1002/humu.22781. Epub 2015 Apr 8. Hum Mutat. 2015. PMID: 25754315 Free PMC article.

5

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

Wang J, Liao J, Zhang J, Cheng WY, Hakenberg J, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L, Kornreich R, Diaz GA, Li S, Edelmann L, Chen R. Wang J, et al. Among authors: webb bd. Genome Med. 2015 Jul 29;7(1):77. doi: 10.1186/s13073-015-0207-6. Genome Med. 2015. PMID: 26338694 Free PMC article.

6

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

Edvardson S, Yi JK, Jalas C, Xu R, Webb BD, Snider J, Fedick A, Kleinman E, Treff NR, Mao C, Elpeleg O. Edvardson S, et al. Among authors: webb bd. J Med Genet. 2016 Jun;53(6):389-96. doi: 10.1136/jmedgenet-2015-103457. Epub 2016 Jan 20. J Med Genet. 2016. PMID: 26792856 Free PMC article.

7

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Shi L, Webb BD, Birch AH, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz GA, Edelmann L, Kornreich R. Shi L, et al. Among authors: webb bd. Clin Genet. 2017 Apr;91(4):599-604. doi: 10.1111/cge.12834. Epub 2016 Aug 22. Clin Genet. 2017. PMID: 27415407 Free PMC article.

8

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

Fedick AM, Jalas C, Swaroop A, Smouha EE, Webb BD. Fedick AM, et al. Among authors: webb bd. Appl Clin Genet. 2016 Aug 31;9:141-6. doi: 10.2147/TACG.S113828. eCollection 2016. Appl Clin Genet. 2016. PMID: 27621663 Free PMC article.

9

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

Akler G, Birch AH, Schreiber-Agus N, Cai X, Cai G, Shi L, Yu C, Larmore AM, Mendiratta-Vij G, Elkhoury L, Dillon MW, Zhu J, Mclellan AS, Suer FE, Webb BD, Schadt EE, Kornreich R, Edelmann L. Akler G, et al. Among authors: webb bd. Mol Genet Genomic Med. 2020 Feb;8(2):e1053. doi: 10.1002/mgg3.1053. Epub 2019 Dec 27. Mol Genet Genomic Med. 2020. PMID: 31880409 Free PMC article.

10

Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects.

Cohen ASA, Simotas C, Webb BD, Shi H, Khan WA, Edelmann L, Scott SA, Singh R. Cohen ASA, et al. Among authors: webb bd. Am J Med Genet A. 2020 May;182(5):1263-1267. doi: 10.1002/ajmg.a.61537. Epub 2020 Mar 5. Am J Med Genet A. 2020. PMID: 32134193

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