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Journal of the American Society of Nephrology : JASN|April 3, 2021
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural DeafnessKarl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, et al.American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.Genome Medicine|February 14, 2024
Genome sequencing as a generic diagnostic strategy for rare diseaseGaby Schobers, Ronny Derks, Amber den Ouden, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationDorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, et al.American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.American Journal of Human Genetics|April 15, 2014
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsAnneke T Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J Jensik, et al.Gastroenterology|April 1, 2018
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 DeficiencyJorik M van Rijn, Rico Chandra Ardy, Zarife Kuloğlu, et al.Pageof 4