Search details
1.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34216551
2.
The contribution of de novo coding mutations to autism spectrum disorder.
Nature
; 515(7526): 216-21, 2014 Nov 13.
Article
in English
| MEDLINE | ID: mdl-25363768
3.
Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model.
Genet Med
; 21(2): 361-372, 2019 02.
Article
in English
| MEDLINE | ID: mdl-29875422
4.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet
; 97(2): 199-215, 2015 Aug 06.
Article
in English
| MEDLINE | ID: mdl-26166479
5.
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 381-389, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28332277
6.
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
Genet Med
; 18(8): 788-95, 2016 08.
Article
in English
| MEDLINE | ID: mdl-26656649
7.
Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.
Geroscience
; 46(2): 2771-2775, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-37603195
8.
Comparing ancestry calibration approaches for a trans-ancestry colorectal cancer polygenic risk score.
medRxiv
; 2024 Apr 01.
Article
in English
| MEDLINE | ID: mdl-37961088
9.
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Commun Biol
; 7(1): 174, 2024 Feb 19.
Article
in English
| MEDLINE | ID: mdl-38374434
10.
Defining and Reducing Variant Classification Disparities.
medRxiv
; 2024 Apr 12.
Article
in English
| MEDLINE | ID: mdl-38645101
11.
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease.
medRxiv
; 2024 Apr 05.
Article
in English
| MEDLINE | ID: mdl-38633811
12.
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Am J Ophthalmol
; 258: 183-195, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37972748
13.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
medRxiv
; 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38496498
14.
Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Commun Biol
; 7(1): 713, 2024 Jun 10.
Article
in English
| MEDLINE | ID: mdl-38858496
15.
Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.
Birth Defects Res
; 109(16): 1257-1267, 2017 Oct 02.
Article
in English
| MEDLINE | ID: mdl-28748635
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