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American Journal of Human Genetics|August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeJosephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Gastroenterology|June 11, 2013
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancerRicharda M de Voer, Ad Geurts van Kessel, Robbert D A Weren, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
Kidney International Reports|October 27, 2025
Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic PerspectivesAnastasia Adella, François Jouret, Leire Madariaga, et al.
The New England Journal of Medicine|October 30, 2009
Human dectin-1 deficiency and mucocutaneous fungal infectionsBart Ferwerda, Gerben Ferwerda, Theo S Plantinga, et al.
European Journal of Medical Genetics|October 21, 2022
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohortLinda A J Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, et al.
Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
American Journal of Human Genetics|February 29, 2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental DisordersMaria J Nabais Sá, Geniver El Tekle, Arjan P M de Brouwer, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
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