Search details
1.
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
2.
Low load for disruptive mutations in autism genes and their biased transmission.
Proc Natl Acad Sci U S A
; 112(41): E5600-7, 2015 Oct 13.
Article
in English
| MEDLINE | ID: mdl-26401017
3.
Accurate de novo and transmitted indel detection in exome-capture data using microassembly.
Nat Methods
; 11(10): 1033-6, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25128977
4.
Rare de novo germline copy-number variation in testicular cancer.
Am J Hum Genet
; 91(2): 379-83, 2012 Aug 10.
Article
in English
| MEDLINE | ID: mdl-22863192
5.
Reducing system noise in copy number data using principal components of self-self hybridizations.
Proc Natl Acad Sci U S A
; 109(3): E103-10, 2012 Jan 17.
Article
in English
| MEDLINE | ID: mdl-22207624
6.
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
Hum Genet
; 133(1): 11-27, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23979609
7.
The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI.
bioRxiv
; 2024 Feb 11.
Article
in English
| MEDLINE | ID: mdl-38370639
8.
Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA).
Blood
; 113(6): 1294-303, 2009 Feb 05.
Article
in English
| MEDLINE | ID: mdl-18922857
9.
Risk assessment of asbestos containing materials in a deteriorated dwelling area using four different methods.
J Hazard Mater
; 410: 124645, 2021 05 15.
Article
in English
| MEDLINE | ID: mdl-33257124
10.
Rates of contributory de novo mutation in high and low-risk autism families.
Commun Biol
; 4(1): 1026, 2021 09 01.
Article
in English
| MEDLINE | ID: mdl-34471188
11.
Indel variant analysis of short-read sequencing data with Scalpel.
Nat Protoc
; 11(12): 2529-2548, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27854363
12.
Hemodialysis using heparin-bound Hemophan in patients at risk of bleeding.
Nephron Clin Pract
; 97(1): c5-10, 2004.
Article
in English
| MEDLINE | ID: mdl-15153761
13.
De novo gene disruptions in children on the autistic spectrum.
Neuron
; 74(2): 285-99, 2012 Apr 26.
Article
in English
| MEDLINE | ID: mdl-22542183
14.
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Neuron
; 70(5): 886-97, 2011 Jun 09.
Article
in English
| MEDLINE | ID: mdl-21658582
15.
Microduplications of 16p11.2 are associated with schizophrenia.
Nat Genet
; 41(11): 1223-7, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19855392
16.
Strong association of de novo copy number mutations with autism.
Science
; 316(5823): 445-9, 2007 Apr 20.
Article
in English
| MEDLINE | ID: mdl-17363630
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