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Plos Genetics|January 24, 2009
A systematic approach to mapping recessive disease genes in individuals from outbred populationsFriedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, et al.
Plos One|March 19, 2016
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy SyndromesDennis Lal, Eva M Reinthaler, Borislav Dejanovic, et al.
Human Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2019
The genomic and clinical landscape of fetal akinesiaMatthias Pergande, Susanne Motameny, Özkan Özdemir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2020
Correction: The genomic and clinical landscape of fetal akinesiaMatthias Pergande, Susanne Motameny, Özkan Özdemir, et al.
Circulation|July 25, 2007
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cellsRalph Knöll, Ruben Postel, Jianming Wang, et al.
Nature Genetics|April 2, 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndromeMathieu Lemaire, Véronique Frémeaux-Bacchi, Franz Schaefer, et al.
Clinical Genetics|July 16, 2021
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndromeEmrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, et al.
American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
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