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Page 1
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Am J Med Genet A. 2024 Jul;194(7):e63559. doi: 10.1002/ajmg.a.63559. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421105 Free article.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: ha t. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: ha tk. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Genomics yields biological and phenotypic insights into bipolar disorder.
O'Connell KS, Koromina M, van der Veen T, Boltz T, David FS, Yang JMK, Lin KH, Wang X, Coleman JRI, Mitchell BL, McGrouther CC, Rangan AV, Lind PA, Koch E, Harder A, Parker N, Bendl J, Adorjan K, Agerbo E, Albani D, Alemany S, Alliey-Rodriguez N, Als TD, Andlauer TFM, Antoniou A, Ask H, Bass N, Bauer M, Beins EC, Bigdeli TB, Pedersen CB, Boks MP, Børte S, Bosch R, Brum M, Brumpton BM, Brunkhorst-Kanaan N, Budde M, Bybjerg-Grauholm J, Byerley W, Cabana-Domínguez J, Cairns MJ, Carpiniello B, Casas M, Cervantes P, Chatzinakos C, Chen HC, Clarence T, Clarke TK, Claus I, Coombes B, Corfield EC, Cruceanu C, Cuellar-Barboza A, Czerski PM, Dafnas K, Dale AM, Dalkner N, Degenhardt F, DePaulo JR, Djurovic S, Drange OK, Escott-Price V, Fanous AH, Fellendorf FT, Ferrier IN, Forty L, Frank J, Frei O, Freimer NB, Fullard JF, Garnham J, Gizer IR, Gordon SD, Gordon-Smith K, Greenwood TA, Grove J, Guzman-Parra J, Ha TH, Hahn T, Haraldsson M, Hautzinger M, Havdahl A, Heilbronner U, Hellgren D, Herms S, Hickie IB, Hoffmann P, Holmans PA, Huang MC, Ikeda M, Jamain S, Johnson JS, Jonsson L, Kalman JL, Kamatani Y, Kennedy JL, Kim E, Kim J, Kittel-Schneider S, Knowles JA, Kogevinas M, Kranz TM, K… See abstract for full author list ➔ O'Connell KS, et al. Among authors: ha th. Nature. 2025 Jan 22. doi: 10.1038/s41586-024-08468-9. Online ahead of print. Nature. 2025. PMID: 39843750
Feasibility of Pure Laparoscopic Donor Right Hepatectomy Compared to Open Donor Right Hepatectomy: A Large Single-Center Cohort Study.
Kim SH, Kim KH, Yoon YI, Kang WH, Lee SK, Hwang S, Ahn CS, Moon DB, Ha TY, Song GW, Jung DH, Park GC, Kim JH, Jwa EK, Na BG, Kim SM, Oh RK, Jeong IJ, Ko HJ, Choi M, Won DH, Kang JH, Lee SG. Kim SH, et al. Among authors: ha ty. Ann Surg. 2025 Jan 20. doi: 10.1097/SLA.0000000000006633. Online ahead of print. Ann Surg. 2025. PMID: 39829418
2,499 results