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European Journal of Human Genetics : EJHG|August 2, 2020
Rare heterozygous GDF6 variants in patients with renal anomaliesHelge Martens, Imke Hennies, Maike Getwan, et al.
Orphanet Journal of Rare Diseases|March 25, 2022
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centersAnna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, et al.
European Journal of Human Genetics : EJHG|October 17, 2024
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tractEsra Kesdiren, Helge Martens, Frank Brand, et al.
Human Genetics|September 6, 2022
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2Anne Christians, Esra Kesdiren, Imke Hennies, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 21, 2016
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisDaniela Anne Braun, Jennifer Ashley Lawson, Heon Yung Gee, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|May 4, 2020
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary NephropathiesKorbinian M Riedhammer, Matthias C Braunisch, Roman Günthner, et al.
American Journal of Human Genetics|May 24, 2016
Mutations in SLC26A1 Cause NephrolithiasisHeon Yung Gee, Ikhyun Jun, Daniela A Braun, et al.
The Journal of Clinical Endocrinology and Metabolism|March 18, 2014
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3Delanie B Macedo, Ana Paula Abreu, Ana Claudia S Reis, et al.
Nature Genetics|June 26, 2012
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CAMarjorie J Lindhurst, Victoria E R Parker, Felicity Payne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyLeyla Akin, Karine Rizzoti, Louise C Gregory, et al.
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