Detalhe da pesquisa
1.
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
PLoS Genet
; 18(6): e1010236, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35737725
2.
Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.
Pediatr Res
; 95(1): 146-155, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37700164
3.
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Brain
; 146(1): 387-404, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802027
4.
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
PLoS Genet
; 16(5): e1008639, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32453731
5.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Hum Mutat
; 43(2): 189-199, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859533
6.
A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
J Genet Couns
; 31(1): 252-260, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265137
7.
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.
Mol Genet Metab
; 133(2): 193-200, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33962822
8.
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Clin Genet
; 100(6): 775-776, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476810
9.
Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(11): 1735-1742, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741966
10.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
11.
A pediatric perspective on genomics and prevention in the twenty-first century.
Pediatr Res
; 87(2): 338-344, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578042
12.
Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.
Genet Med
; 21(8): 1821-1826, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626901
13.
Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(10): 2406-2409, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040388
14.
Evaluation of biomarkers for Sanfilippo syndrome.
Mol Genet Metab
; 128(1-2): 68-74, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104888
15.
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Pediatr Cardiol
; 40(8): 1679-1687, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31535183
16.
Familial co-occurrence of congenital heart defects follows distinct patterns.
Eur Heart J
; 39(12): 1015-1022, 2018 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106500
17.
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
18.
Germline Variant Interpretation in Children with Severe Sepsis.
J Clin Immunol
; 43(2): 312-314, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307603
19.
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(9): 899-909, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29904160
20.
Natural history of echocardiographic abnormalities in mucopolysaccharidosis III.
Mol Genet Metab
; 124(2): 131-134, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735373