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.
Viscous peeling of a nanosheet.
Soft Matter
; 18(20): 3967-3980, 2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35551304
7.
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
8.
Individuals aged 1-64 years with documented congenital heart defects at healthcare encounters, five U.S. surveillance sites, 2011-2013.
Am Heart J
; 238: 100-108, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33951414
9.
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
10.
Adsorption of Single and Multiple Graphene-Oxide Nanoparticles at a Water-Vapor Interface.
Langmuir
; 37(45): 13322-13330, 2021 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34723541
11.
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
12.
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
13.
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
14.
Modified Voronoi Analysis of Spontaneous Formation of Interfacial Droplets on Immersed Oil-Solid Substrates.
Langmuir
; 36(19): 5400-5407, 2020 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337992
15.
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
16.
Liquid exfoliation of multilayer graphene in sheared solvents: A molecular dynamics investigation.
J Chem Phys
; 152(10): 104701, 2020 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32171224
17.
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
18.
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
19.
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
20.
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