Search details
1.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet
; 110(8): 1229-1248, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37541186
2.
Improving prenatal diagnosis through standards and aggregation.
Prenat Diagn
; 44(4): 454-464, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38242839
3.
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nature
; 536(7615): 205-9, 2016 08 11.
Article
in English
| MEDLINE | ID: mdl-27487209
4.
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Am J Hum Genet
; 98(1): 45-57, 2016 Jan 07.
Article
in English
| MEDLINE | ID: mdl-26749307
5.
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Am J Hum Genet
; 98(1): 58-74, 2016 Jan 07.
Article
in English
| MEDLINE | ID: mdl-26749308
6.
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Genet Med
; 21(7): 1611-1620, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30504930
7.
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Am J Hum Genet
; 94(3): 415-25, 2014 Mar 06.
Article
in English
| MEDLINE | ID: mdl-24581740
8.
50 Years Ago in TheJournalofPediatrics: Billions of Genomes: Mosaicism in Turner Syndrome.
J Pediatr
; 243: 77, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35341557
9.
50 Years Ago in TheJournalofPediatrics: Logic of Biochemical Discovery in Pompe Disease.
J Pediatr
; 238: 173, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34702494
10.
Beyond the exome: what's next in diagnostic testing for Mendelian conditions.
ArXiv
; 2023 Jan 18.
Article
in English
| MEDLINE | ID: mdl-36713248
11.
Non-DNA-binding cofactors enhance DNA-binding specificity of a transcriptional regulatory complex.
Mol Syst Biol
; 7: 555, 2011 Dec 06.
Article
in English
| MEDLINE | ID: mdl-22146299
12.
Synthesis and evaluation of substrate analogue inhibitors of trypanothione reductase.
J Enzyme Inhib Med Chem
; 27(6): 784-94, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22085139
13.
Longitudinal report of child with de novo 16p11.2 triplication.
Clin Case Rep
; 6(1): 147-154, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29375855
14.
The birth of a human-specific neural gene by incomplete duplication and gene fusion.
Genome Biol
; 18(1): 49, 2017 03 09.
Article
in English
| MEDLINE | ID: mdl-28279197
15.
Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism".
Biol Psychiatry
; 77(9): 769-71, 2015 May 01.
Article
in English
| MEDLINE | ID: mdl-25843334
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