Publications

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Filters: Keyword is Haplotypes  [Clear All Filters]
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V
Burns, D. T. et al. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet 102, 858-873 (2018).
T
Chen, W. et al. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).
R
He, Z. et al. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet 94, 33-46 (2014).
Santos-Cortez, R. Lyn P. et al. Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet 47, 917-20 (2015).
P
Staples, J. et al. PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes. Bioinformatics 32, 596-8 (2016).
Staples, J. et al. PADRE: Pedigree-Aware Distant-Relationship Estimation. Am J Hum Genet 99, 154-62 (2016).
M
Santos-Cortez, R. Lyn P. et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93, 132-40 (2013).
Shah, K. et al. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet 17, 13 (2016).
H
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
E
Kambur, O. et al. Effect of catechol-o-methyltransferase-gene (COMT) variants on experimental and acute postoperative pain in 1,000 women undergoing surgery for breast cancer. Anesthesiology 119, 1422-33 (2013).
D
Aneichyk, T. et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).
Lemmers, R. J. L. F. et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44, 1370-4 (2012).
C
Balaraju, S. et al. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. Eur J Hum Genet 28, 373-377 (2020).
Yuan, B. et al. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet 11, e1005686 (2015).
Wang, G. T., Zhang, D., Li, B., Dai, H. & Leal, S. M. Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. Eur J Hum Genet 23, 1739-43 (2015).
Liu, J. et al. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet 137, 553-567 (2018).
Garg, S. et al. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol 39, 309-312 (2021).
8
Dupont, W. D. et al. 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun 11, 1523 (2020).