Journal of Medical Genetics
Journal Abbreviation: J MED GENET
ISSN: 0022-2593
eISSN: 1468-6244
Publisher: BMJ Publishing Group
Publications (20)
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel (2023)
Levi H, Carmi S, Rosset S, Yerushalmi R, Zick A, Yablonski-Peretz T, Wang Q, et al.
Journal article
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (2022)
Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepanska M, Zaniew M, et al.
Journal article
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (2022)
Morison LD, Meffert E, Stampfer M, Steiner-Wilke I, Vollmer B, Schulze K, Briggs T, et al.
Journal article
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021)
Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al.
Journal article
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020)
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, et al.
Journal article
Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1 (2020)
Münch J, Kirschner KM, Schlee H, Kraus C, Schönauer R, Jin W, Le Duc GD, et al.
Journal article
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019)
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, et al.
Journal article
Congenital valvular defects associated with deleterious mutations in the PLD1 gene (2017)
Ta-Shma A, Zhang K, Salimova E, Zernecke A, Sieiro-Mosti D, Stegner D, Furtado M, et al.
Journal article
Confirmation of mutations inPROSCas a novel cause of vitamin B 6 -dependent epilepsy (2017)
Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, et al.
Journal article
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum (2017)
Reuter M, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, et al.
Journal article