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Human Mutation|September 17, 2013
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5Heidi Larkin, Maria Gil Ribeiro, Christine LavoieHuman Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.Human Mutation|July 22, 2014
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken SyndromeGilles Morin, Nadina Ortiz Bruechle, Amrathlal Rabbind Singh, et al.Human Mutation|July 22, 2014
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathyTanit Arnedo, Tania López-Hernández, Elena Jeworutzki, et al.Human Mutation|July 29, 2014
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictionsNeeraj Sharma, Patrick R Sosnay, Anabela S Ramalho, et al.Human Mutation|July 29, 2014
Genetic and clinical analysis of ABCA4-associated disease in African American patientsJana Zernant, Frederick T Collison, Winston Lee, et al.Human Mutation|May 16, 2013
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephalocelesBenjamin W Darbro, Vinit B Mahajan, Lokesh Gakhar, et al.Human Mutation|April 5, 2013
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interactionTomohiko Nakata, Mikako Ito, Yoshiteru Azuma, et al.Human Mutation|April 5, 2013
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence dataIan M Carr, Joanne Morgan, Christopher Watson, et al.Human Mutation|April 10, 2013
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnosticsBirgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, et al.Pageof 583