Detalhe da pesquisa
1.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
2.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
3.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805781
4.
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Genet Med
; 21(9): 2135-2144, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890783
5.
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Hum Mutat
; 39(7): 1014-1023, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688601
6.
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Hum Genet
; 137(3): 257-264, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556724
7.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet
; 97(6): 904-13, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637980
8.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
9.
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Am J Med Genet A
; 173(10): 2680-2689, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815871
10.
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
N Engl J Med
; 369(16): 1502-11, 2013 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088041
11.
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Am J Med Genet A
; 170(8): 2206-11, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27250922
12.
Using bioinformatics and systems genetics to dissect HDL-cholesterol genetics in an MRL/MpJ x SM/J intercross.
J Lipid Res
; 53(6): 1163-75, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22498810
13.
A major X-linked locus affects kidney function in mice.
Mol Genet Genomics
; 287(11-12): 845-54, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23011808
14.
Sequence variation at multiple loci influences red cell hemoglobin concentration.
Blood
; 116(25): e139-49, 2010 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20833975
15.
Uncovering genes and regulatory pathways related to urinary albumin excretion.
J Am Soc Nephrol
; 22(1): 73-81, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21030601
16.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242
17.
Integration of QTL and bioinformatic tools to identify candidate genes for triglycerides in mice.
J Lipid Res
; 52(9): 1672-82, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21622629
18.
The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol.
J Lipid Res
; 52(6): 1139-1149, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21444760
19.
Untangling HDL quantitative trait loci on mouse chromosome 5 and identifying Scarb1 and Acads as the underlying genes.
J Lipid Res
; 51(9): 2706-13, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20562441
20.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Ann Clin Transl Neurol
; 5(10): 1277-1285, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349862