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2017 3
2018 1
2021 2
2024 0

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Page 1
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ; GOSgene; Torpiano JG, Formosa N, Cachia MJ, Field D, Lettieri A, Ocaka LA, Paganoni AJ, Rajabali SH, Riegman KL, De Martini LB, Chaya T, Robinson IC, Furukawa T, Cariboni A, Basson MA, Dattani MT. Whittaker DE, et al. Among authors: riegman kl. J Clin Invest. 2021 Dec 15;131(24):e141587. doi: 10.1172/JCI141587. J Clin Invest. 2021. PMID: 34730112 Free PMC article.
Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice.
Suetterlin P, Hurley S, Mohan C, Riegman KLH, Pagani M, Caruso A, Ellegood J, Galbusera A, Crespo-Enriquez I, Michetti C, Yee Y, Ellingford R, Brock O, Delogu A, Francis-West P, Lerch JP, Scattoni ML, Gozzi A, Fernandes C, Basson MA. Suetterlin P, et al. Among authors: riegman klh. Cereb Cortex. 2018 Jun 1;28(6):2192-2206. doi: 10.1093/cercor/bhy058. Cereb Cortex. 2018. PMID: 29668850 Free PMC article.
The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.
Whittaker DE, Riegman KL, Kasah S, Mohan C, Yu T, Pijuan-Sala B, Hebaishi H, Caruso A, Marques AC, Michetti C, Smachetti ME, Shah A, Sabbioni M, Kulhanci O, Tee WW, Reinberg D, Scattoni ML, Volk H, McGonnell I, Wardle FC, Fernandes C, Basson MA. Whittaker DE, et al. Among authors: riegman kl. J Clin Invest. 2017 Mar 1;127(3):874-887. doi: 10.1172/JCI83408. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165338 Free PMC article.