Search details
1.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Cell
; 176(6): 1310-1324.e10, 2019 03 07.
Article
in English
| MEDLINE | ID: mdl-30827684
2.
Chemistry-First Approach for Nomination of Personalized Treatment in Lung Cancer.
Cell
; 173(4): 864-878.e29, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29681454
3.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Article
in English
| MEDLINE | ID: mdl-28235197
4.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Article
in English
| MEDLINE | ID: mdl-24766809
5.
Mapping and characterization of structural variation in 17,795 human genomes.
Nature
; 583(7814): 83-89, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32460305
6.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37934770
7.
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program.
Am J Hum Genet
; 109(5): 857-870, 2022 05 05.
Article
in English
| MEDLINE | ID: mdl-35385699
8.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34582790
9.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
; 108(9): 1710-1724, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34450031
10.
Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host.
Nature
; 553(7686): 77-81, 2018 01 03.
Article
in English
| MEDLINE | ID: mdl-29300007
11.
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts.
Am J Hum Genet
; 106(1): 112-120, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31883642
12.
Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability.
Genome Res
; 30(6): 826-834, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32461224
13.
Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages.
Genome Res
; 30(12): 1716-1726, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33208454
14.
Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression.
PLoS Biol
; 18(12): e3000954, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33270638
15.
Author Correction: Comparative and demographic analysis of orang-utan genomes.
Nature
; 608(7924): E36, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35962045
16.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
J Allergy Clin Immunol
; 149(2): 758-766, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34329649
17.
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Hum Mutat
; 43(12): 2033-2053, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36054313
18.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35344616
19.
A Genocentric Approach to Discovery of Mendelian Disorders.
Am J Hum Genet
; 105(5): 974-986, 2019 11 07.
Article
in English
| MEDLINE | ID: mdl-31668702
20.
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Am J Hum Genet
; 105(1): 132-150, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31230720