The American Journal of Human Genetics

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A Test for Linkage and Association in General Pedigrees: The Pedigree Disequilibrium Test
The American Journal of Human Genetics - Tập 67 - Trang 146-154 - 2000
Eden R. Martin, Stephanie A. Monks, Liling L. Warren, Norman L. Kaplan
The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda
The American Journal of Human Genetics - Tập 68 - Trang 1386-1397 - 2001
A.K. Gedeon, G.E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I.A. Glass, R. Savarirayan, W.G. Cole, D.L. Rimoin, B.G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Gecz, J.C. Mulley
Variants in CHEK2 Other than 1100delC Do Not Make a Major Contribution to Breast Cancer Susceptibility
The American Journal of Human Genetics - Tập 72 - Trang 1023-1028 - 2003
Mieke Schutte, Sheila Seal, Rita Barfoot, Hanne Meijers-Heijboer, Marijke Wasielewski, D. Gareth Evans, Diana Eccles, Carel Meijers, Frans Lohman, Jan Klijn, Ans van den Ouweland, P. Andrew Futreal, Katherine L. Nathanson, Barbara L. Weber, Douglas F. Easton, Michael R. Stratton, Nazneen Rahman
Estimating clinical risk in gene regions from population sequencing cohort data
The American Journal of Human Genetics - Tập 110 - Trang 940-949 - 2023
James D. Fife, Christopher A. Cassa
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
The American Journal of Human Genetics - Tập 86 Số 6 - Trang 892-903 - 2010
Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A. J. Weterman, Claudia Gonzaga‐Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauß, Klaus-Henning Krause, Mehrdad Khajavi, Jan Posadka, Antoon Vandenberghe, Francesc Palau, Lionel Van Maldergem, Frank Baas, Vincent Timmerman, James R. Lupski
FOXP2 Targets Show Evidence of Positive Selection in European Populations
The American Journal of Human Genetics - Tập 92 - Trang 696-706 - 2013
Qasim Ayub, Bryndis Yngvadottir, Yuan Chen, Yali Xue, Min Hu, Sonja C. Vernes, Simon E. Fisher, Chris Tyler-Smith
A Genomewide Association Study of Skin Pigmentation in a South Asian Population
The American Journal of Human Genetics - Tập 81 - Trang 1119-1132 - 2007
Renee P. Stokowski, P.V. Krishna Pant, Tony Dadd, Amelia Fereday, David A. Hinds, Carl Jarman, Wendy Filsell, Rebecca S. Ginger, Martin R. Green, Frans J. van der Ouderaa, David R. Cox
Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering
The American Journal of Human Genetics - Tập 81 Số 5 - Trang 1084-1097 - 2007
Sharon R. Browning, Brian L. Browning
Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel
The American Journal of Human Genetics - Tập 69 - Trang 351-360 - 2001
Hagit Toledano-Alhadef, Lina Basel-Vanagaite, Nurit Magal, Bella Davidov, Sophie Ehrlich, Valerie Drasinover, Ellen Taub, Gabrielle J. Halpern, Nathan Ginott, Mordechai Shohat
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
The American Journal of Human Genetics - Tập 105 - Trang 1274 - 2019
Trygve E. Bakken, Kyle Retterer, Zhancheng Zhang, Amy B. Wilfert, Raphael A. Bernier, Evan E. Eichler, Tychele N. Turner, Rebecca I. Torene, Micah R. Pepper
While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM patterns where the sex of affected children is examined separately. We considered ∼8,825 sequenced parent-child trios (n ∼26,475 individuals) and identify 54 genes with a DNM enrichment in males (n = 18), females (n = 17), or overlapping in both...... hiện toàn bộ
#sex bias #neurodevelopmental disorder #autism #intellectual disability #female protective effect #X chromosome
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