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American Journal of Human Genetics|June 13, 1998
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing lossP M Kelley, D J Harris, B C Comer, et al.
American Journal of Human Genetics|June 19, 1998
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutationsW A Paznekas, M L Cunningham, T D Howard, et al.
American Journal of Human Genetics|June 19, 1998
A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutationsS A Tishkoff, A Goldman, F Calafell, et al.
American Journal of Human Genetics|June 19, 1998
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypesJ C Stephens, D E Reich, D B Goldstein, et al.
American Journal of Human Genetics|June 19, 1998
Mutation rate in human microsatellites: influence of the structure and length of the tandem repeatB Brinkmann, M Klintschar, F Neuhuber, et al.
American Journal of Human Genetics|June 19, 1998
Genotype-phenotype correlations in attenuated adenomatous polyposis coliC Soravia, T Berk, L Madlensky, et al.
American Journal of Human Genetics|August 2, 2016
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport DefectsKosuke Izumi, Maggie Brett, Eriko Nishi, et al.
American Journal of Human Genetics|August 2, 2016
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas DeferensOlivier Patat, Adrien Pagin, Aurore Siegfried, et al.
American Journal of Human Genetics|August 2, 2016
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 SignalingArda Cetinkaya, Jingwei Rachel Xiong, İbrahim Vargel, et al.
American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.
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