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American Journal of Human Genetics|September 9, 2017
Variant Interpretation: Functional Assays to the RescueLea M Starita, Nadav Ahituv, Maitreya J Dunham, et al.
American Journal of Human Genetics|September 9, 2017
A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female InfertilityTailai Chen, Yuehong Bian, Xiaoman Liu, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
American Journal of Human Genetics|March 29, 2016
Frequency and Complexity of De Novo Structural Mutation in AutismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
American Journal of Human Genetics|May 3, 2016
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female FertilityHamdi Mbarek, Stacy Steinberg, Dale R Nyholt, et al.
American Journal of Human Genetics|December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, 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.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
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