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American Journal of Human Genetics|September 20, 2016
Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts?Alexandra E Fish, John A Capra, William S Bush
American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in KDSR Cause Recessive Progressive Symmetric ErythrokeratodermaLynn M Boyden, Nicholas G Vincent, Jing Zhou, et al.
American Journal of Human Genetics|March 16, 2010
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosisJohanna Dahlqvist, Joakim Klar, Neha Tiwari, et al.
American Journal of Human Genetics|February 9, 2010
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar SyndromeZafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, et al.
American Journal of Human Genetics|March 1, 1991
Prenatal screening for hemoglobinopathies. I. A prospective regional trialP T Rowley, S Loader, C J Sutera, et al.
American Journal of Human Genetics|March 11, 1991
Linkage analysis of familial Alzheimer disease, using chromosome 21 markersG D Schellenberg, M A Pericak-Vance, E M Wijsman, et al.
American Journal of Human Genetics|March 9, 2010
Using principal components of genetic variation for robust and powerful detection of gene-gene interactions in case-control and case-only studiesSamsiddhi Bhattacharjee, Zhaoming Wang, Julia Ciampa, et al.
American Journal of Human Genetics|June 13, 2017
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Erwin Brosens, Françoise Muller, et al.
American Journal of Human Genetics|May 6, 2017
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice SitesMelissa Lee, Patrick Roos, Neeraj Sharma, et al.
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