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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Among authors: andrews jc. Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. Am J Hum Genet. 2019. PMID: 31491411 Free PMC article. No abstract available.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Among authors: andrews jc. Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327508 Free PMC article.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK; Undiagnosed Diseases Network; Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. Andrews JC, et al. Genet Med. 2023 Jun;25(6):100833. doi: 10.1016/j.gim.2023.100833. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013900
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Marcogliese PC, et al. Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517. Cell Rep. 2022. PMID: 35294868 Free PMC article.
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins.
Guichard A, Lu S, Kanca O, Bressan D, Huang Y, Ma M, Sanz Juste S, Andrews JC, Jay KL, Sneider M, Schwartz R, Huang MC, Bei D, Pan H, Ma L, Lin WW, Auradkar A, Bhagwat P, Park S, Wan KH, Ohsako T, Takano-Shimizu T, Celniker SE, Wangler MF, Yamamoto S, Bellen HJ, Bier E. Guichard A, et al. Among authors: andrews jc. Cell Rep. 2023 Aug 29;42(8):112842. doi: 10.1016/j.celrep.2023.112842. Epub 2023 Jul 20. Cell Rep. 2023. PMID: 37480566 Free PMC article.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics; Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. Guo H, et al. Among authors: andrews jc. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8. Nat Commun. 2019. PMID: 31616000 Free PMC article.
Comparing the performance of 2 human papillomavirus assays for a new use indication: a real-world evidence-based evaluation in the United States.
Wheeler CM, Torrez-Martinez NE, Torres-Chavolla E, Parvu V, Andrews JC, Du R, Robertson M, Joste NE, Cuzick J; New Mexico HPV Pap Registry Steering Committee. Wheeler CM, et al. Among authors: andrews jc. Am J Obstet Gynecol. 2024 Feb;230(2):243.e1-243.e11. doi: 10.1016/j.ajog.2023.09.100. Epub 2023 Oct 6. Am J Obstet Gynecol. 2024. PMID: 37806613 Free article.
Endoscopic ultrasound-guided versus percutaneous drainage for the management of post-operative fluid collections after distal pancreatectomy.
Fogwe DT, AbiMansour JP, Truty MJ, Levy MJ, Storm AC, Law RJ, Vargas EJ, Fleming CJ, Andrews JC, Cleary SP, Kendrick ML, Martin JA, Bofill-Garcia AM, Dayyeh BKA, Chandrasekhara V. Fogwe DT, et al. Among authors: andrews jc. Surg Endosc. 2023 Sep;37(9):6922-6929. doi: 10.1007/s00464-023-10188-6. Epub 2023 Jun 15. Surg Endosc. 2023. PMID: 37322361
295 results