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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894 Free article.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. Gabriele M, et al. Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006. Am J Hum Genet. 2017. PMID: 28575647 Free PMC article.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. Blackburn ATM, et al. Genet Med. 2019 Dec;21(12):2755-2764. doi: 10.1038/s41436-019-0576-0. Epub 2019 Jul 2. Genet Med. 2019. PMID: 31263215 Free PMC article.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Shamsi AMSMA, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. Blackburn ATM, et al. Genet Med. 2020 Apr;22(4):821. doi: 10.1038/s41436-019-0732-6. Genet Med. 2020. PMID: 31857706 Free article.
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.
Hoover-Fong JE, Alade AY, Hashmi SS, Hecht JT, Legare JM, Little ME, Liu C, McGready J, Modaff P, Pauli RM, Rodriguez-Buritica DF, Schulze KJ, Serna ME, Smid CJ, Bober MB. Hoover-Fong JE, et al. Genet Med. 2021 Aug;23(8):1498-1505. doi: 10.1038/s41436-021-01165-2. Epub 2021 May 18. Genet Med. 2021. PMID: 34006999 Free PMC article.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei AD, Wakenight P, Zwingman TA, Bard AM, Sahai N, Willemsen MH, Schelhaas HJ, Stegmann APA, Verhoeven JS, de Man SA, Wessels MW, Kleefstra T, Shinde DN, Helbig KL, Basinger A, Wagner VF, Rodriguez-Buritica D, Bryant E, Millichap JJ, Millen KJ, Dobyns WB, Ramirez JM, Kalume FK. Wei AD, et al. J Neurophysiol. 2022 Jul 1;128(1):40-61. doi: 10.1152/jn.00509.2021. Epub 2022 May 18. J Neurophysiol. 2022. PMID: 35583973 Free PMC article.
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