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American Journal of Human Genetics|April 7, 2009
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesHelen V Firth, Shola M Richards, A Paul Bevan, et al.American Journal of Human Genetics|April 7, 2009
Human male infertility caused by mutations in the CATSPER1 channel proteinMatthew R Avenarius, Michael S Hildebrand, Yuzhou Zhang, et al.American Journal of Human Genetics|March 31, 2009
Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18Xiaoyi Gao, Eden R Martin, Yutao Liu, et al.American Journal of Human Genetics|October 6, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien L M Coene, Ronald Roepman, Dan Doherty, et al.American Journal of Human Genetics|February 10, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesVictoria H Castleman, Leila Romio, Rahul Chodhari, et al.American Journal of Human Genetics|February 10, 2009
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individualsBrian L Browning, Sharon R BrowningAmerican Journal of Human Genetics|August 15, 2009
Massively parallel sequencing: the next big thing in genetic medicineTracy Tucker, Marco Marra, Jan M FriedmanAmerican Journal of Human Genetics|August 15, 2009
X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected womenRoman A Siddiqui, Ulrike Sauermann, Janine Altmüller, et al.American Journal of Human Genetics|March 1, 1990
Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21J L Blouin, Z Rahmani, Z Chettouh, et al.American Journal of Human Genetics|March 1, 1990
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemiaF D Ledley, A M Crane, M LumettaPageof 979