Detalhe da pesquisa
1.
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.
Am J Med Genet A
; 194(5): e63516, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168088
2.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
3.
Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.
PLoS Genet
; 17(3): e1009413, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33684136
4.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Ann Neurol
; 92(5): 895-901, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947102
5.
Maternal Smoking and Congenital Heart Defects, National Birth Defects Prevention Study, 1997-2011.
J Pediatr
; 240: 79-86.e1, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508749
6.
Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance.
Am J Med Genet C Semin Med Genet
; 187(2): 199-212, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33982868
7.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398909
8.
From cause to care: Can a triple approach to better population data improve the global outlook of congenital heart disease?
Am J Med Genet C Semin Med Genet
; 184(1): 23-35, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083404
9.
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Hum Genet
; 139(8): 1077-1090, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266521
10.
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab
; 129(1): 13-19, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836396
11.
Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011.
Am J Obstet Gynecol
; 222(2): 176.e1-176.e11, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31454511
12.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
13.
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
Am J Hum Genet
; 99(2): 299-317, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476657
14.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 695-703, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545681
15.
Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
Am J Med Genet A
; 179(5): 792-796, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773818
16.
Early Childhood Inpatient Costs of Critical Congenital Heart Disease.
J Pediatr
; 203: 371-379.e7, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30268400
17.
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
Am J Med Genet A
; 176(12): 2901-2906, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346094
18.
Does Maternal Exposure to Secondhand Tobacco Smoke During Pregnancy Increase the Risk for Preterm or Small-for-Gestational Age Birth?
Matern Child Health J
; 22(10): 1418-1429, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574536
19.
Maternal Exposure to Nitrogen Dioxide, Intake of Methyl Nutrients, and Congenital Heart Defects in Offspring.
Am J Epidemiol
; 186(6): 719-729, 2017 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28520847
20.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
J Inherit Metab Dis
; 40(3): 423-431, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28205048