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Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW; Care 4 Rare Canada Consortium; Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM. Krall M, et al. Eur J Hum Genet. 2019 Apr;27(4):582-593. doi: 10.1038/s41431-018-0298-9. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622326 Free PMC article.
Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM. Lamont RE, et al. Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23. Eur J Hum Genet. 2016. PMID: 27004616 Free PMC article. Review.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. Slavotinek A, et al. Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363. Hum Mol Genet. 2017. PMID: 29036646 Free PMC article.
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH. Slavotinek A, et al. Hum Mol Genet. 2020 Aug 3;29(13):2218-2239. doi: 10.1093/hmg/ddaa108. Hum Mol Genet. 2020. PMID: 32504085 Free PMC article.
Targeted in situ cross-linking mass spectrometry and integrative modeling reveal the architectures of three proteins from SARS-CoV-2.
Slavin M, Zamel J, Zohar K, Eliyahu T, Braitbard M, Brielle E, Baraz L, Stolovich-Rain M, Friedman A, Wolf DG, Rouvinski A, Linial M, Schneidman-Duhovny D, Kalisman N. Slavin M, et al. Proc Natl Acad Sci U S A. 2021 Aug 24;118(34):e2103554118. doi: 10.1073/pnas.2103554118. Proc Natl Acad Sci U S A. 2021. PMID: 34373319 Free PMC article.
Discovering predisposing genes for hereditary breast cancer using deep learning.
Passi G, Lieberman S, Zahdeh F, Murik O, Renbaum P, Beeri R, Linial M, May D, Levy-Lahad E, Schneidman-Duhovny D. Passi G, et al. Among authors: schneidman duhovny d. Brief Bioinform. 2024 May 23;25(4):bbae346. doi: 10.1093/bib/bbae346. Brief Bioinform. 2024. PMID: 39038933 Free PMC article.
Memdock: an α-helical membrane protein docking algorithm.
Hurwitz N, Schneidman-Duhovny D, Wolfson HJ. Hurwitz N, et al. Bioinformatics. 2016 Aug 15;32(16):2444-50. doi: 10.1093/bioinformatics/btw184. Epub 2016 Apr 8. Bioinformatics. 2016. PMID: 27153621
93 results