Below are the most recent publications written about "Gene Dosage" by people in Profiles.
-
Verma A, Aylward B, Ma F, Sherman CA, Chopp L, Shinton S, Roy R, Fahl S, Contreras A, Koenitzer B, Awasthi P, Mazan-Mamczarz K, De S, Ollikainen N, Qiu X, Bosselut R, Sen R, Wiest DL, Sen JM. TCF1 dosage determines cell fate during T cell development. Sci Adv. 2024 Nov 29; 10(48):eado5982.
-
Seth A, Rivera A, Chahdi A, Choi IS, Medina-Martinez O, Lewis S, O'Neill M, Ridgeway A, Moore J, Jorgez C, Lamb DJ. Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function. FASEB J. 2022 11; 36(11):e22567.
-
Ross JL, Bloy L, Roberts TPL, Miller J, Xing C, Silverman LA, Zinn AR. Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression. Am J Med Genet B Neuropsychiatr Genet. 2019 10; 180(7):471-482.
-
Joseph NM, Tsokos CG, Umetsu SE, Shain AH, Kelley RK, Onodera C, Bowman S, Talevich E, Ferrell LD, Kakar S, Krings G. Genomic profiling of combined hepatocellular-cholangiocarcinoma reveals similar genetics to hepatocellular carcinoma. J Pathol. 2019 06; 248(2):164-178.
-
Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PLoS One. 2018; 13(9):e0202104.
-
Raznahan A, Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, Zinn AR, Wangsa D, Wise J, Murphy DGM, Bolton PF, Ried T, Ross J, Giedd JN, Geschwind DH. Sex-chromosome dosage effects on gene expression in humans. Proc Natl Acad Sci U S A. 2018 07 10; 115(28):7398-7403.
-
Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R, Lemaire SA, Body SC, Milewicz DM. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. Am J Med Genet A. 2016 12; 170(12):3157-3164.
-
Lotan TL, Wei W, Ludkovski O, Morais CL, Guedes LB, Jamaspishvili T, Lopez K, Hawley ST, Feng Z, Fazli L, Hurtado-Coll A, McKenney JK, Simko J, Carroll PR, Gleave M, Lin DW, Nelson PS, Thompson IM, True LD, Brooks JD, Lance R, Troyer D, Squire JA. Analytic validation of a clinical-grade PTEN immunohistochemistry assay in prostate cancer by comparison with PTEN FISH. Mod Pathol. 2016 08; 29(8):904-14.
-
Calvo CM, Khan MA, Mehta S, Garg SJ, Dunn JP. Correlation of Clinical Outcomes with Quantitative Polymerase Chain Reaction DNA Copy Number in Patients with Acute Retinal Necrosis. Ocul Immunol Inflamm. 2017 Apr; 25(2):246-252.
-
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Aug 06; 97(2):343-52.