Detalhe da pesquisa
1.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
; 108(9): 1710-1724, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34450031
2.
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Am J Med Genet A
; 185(3): 916-922, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369125
3.
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Am J Med Genet A
; 182(6): 1387-1399, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32233023
4.
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
5.
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.
Genet Med
; 21(11): 2453-2461, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992551
6.
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Hum Mol Genet
; 25(11): 2331-2341, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26965164
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.
Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study.
PLoS Pathog
; 11(6): e1004869, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26070066
9.
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Am J Med Genet A
; 173(8): 2176-2188, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653806
10.
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Am J Hum Genet
; 93(2): 197-210, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810381
11.
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Hum Mol Genet
; 22(21): 4339-48, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23773997
12.
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Blood
; 132(6): 658-662, 2018 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29784638
13.
Histone proteoform analysis reveals epigenetic changes in adult mouse brown adipose tissue in response to cold stress.
Epigenetics Chromatin
; 17(1): 12, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678237
14.
Histone proteoform analysis reveals epigenetic changes in adult mouse brown adipose tissue in response to cold stress.
bioRxiv
; 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328142
15.
Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.
Birth Defects Res A Clin Mol Teratol
; 91(3): 162-8, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21290564
16.
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
J Clin Invest
; 131(1)2021 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001864
17.
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Nat Commun
; 11(1): 2441, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415109
18.
Low levels of genetic divergence across geographically and linguistically diverse populations from India.
PLoS Genet
; 2(12): e215, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17194221
19.
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Clin Epigenetics
; 11(1): 60, 2019 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30961659
20.
Direct and indirect nigrofugal projections to the nucleus reticularis pontis caudalis mediate in the motor execution of the acoustic startle reflex.
Brain Struct Funct
; 223(6): 2733-2751, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574585