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Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.Nature Genetics|February 8, 2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeIrene A Aligianis, Colin A Johnson, Paul Gissen, et al.Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.International Journal of Cancer|May 14, 2019
Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillanceChristoph Engel, Christine Fischer, Silke Zachariae, et al.American Journal of Human Genetics|July 30, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental DisordersBjörn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, et al.American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.Pageof 17