Human molecular genetics

Functional characterization of OXTR-associated enhancers.

Human molecular genetics

Laboy Cintrón D, Sheng RR, Ahituv N

Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.

Human molecular genetics

Choquet H, Li W, Yin J, Bradley R, Hoffmann TJ, Nandakumar P, 23andMe Research Team, Mostaedi R, Tian C, Ahituv N, Jorgenson E

Neuroligin-3 and Neuroligin-4X form Nanoscopic clusters and regulate growth cone organization and size.

Human molecular genetics

Gatford NJF, Deans PJM, Duarte RRR, Chennell G, Sellers KJ, Raval P, Srivastava DP

Genomic characterization of the adolescent idiopathic scoliosis associated transcriptome and regulome.

Human molecular genetics

Makki N, Zhao J, Liu Z, Eckalbar WL, Ushiki A, Khanshour AM, Wu J, Rios J, Gray RS, Wise CA, Ahituv N

Frontotemporal dementia nonsense mutation of progranulin rescued by aminoglycosides.

Human molecular genetics

Kuang L, Hashimoto K, Huang EJ, Gentry MS, Zhu H

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.

Human molecular genetics

Alankarage D, Szot JO, Pachter N, Slavotinek A, Selleri L, Shieh JT, Winlaw D, Giannoulatou E, Chapman G, Dunwoodie SL

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

Human molecular genetics

Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA

Gene regulation in the 3D genome.

Human molecular genetics

Li Y, Hu M, Shen Y

Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.

Human molecular genetics

Ching ST, Infante CR, Du W, Sharir A, Park S, Menke DB, Klein OD

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