Med Genet

A specific mutation in TBL1XR1 causes Pierpont syndrome

Francesca Forzano, G Bradley Schaefer, Aldo Jongejan, 2016, Journal of Medical Genetics.

A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS.

G. Feldman, D. V. Van Dyke, S. Vats, 1998, Journal of medical genetics.

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

E. Zrenner, B. Wissinger, S. Kohl, 1997, Journal of medical genetics.

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

A. Antoniou, Aarti Sharma, K. Williamson, 2022, Journal of Medical Genetics.

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

David I. Wilson, I. Temple, J. Holloway, 2014, Journal of Medical Genetics.

Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes

U. Muthane, M. Behari, B. Thelma, 2016, Journal of Medical Genetics.