Detalhe da pesquisa
1.
Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review.
J Pediatr
; 271: 114060, 2024 Apr 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38641166
2.
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Hepatology
; 77(2): 512-529, 2023 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36036223
3.
Human Mutation special issue on innovations in genomic diagnostics.
Hum Mutat
; 43(11): 1493-1494, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36116036
4.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35870179
5.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Mol Genet Metab
; 135(1): 93-101, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34969639
6.
Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia.
Gastroenterology
; 159(3): 1068-1084.e2, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32505743
7.
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Genet Med
; 23(2): 323-330, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33077891
8.
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.
Am J Med Genet A
; 185(3): 719-731, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33369123
9.
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
PLoS Genet
; 14(8): e1007532, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30102696
10.
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Hum Mutat
; 41(5): 973-982, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31944481
11.
A six-attribute classification of genetic mosaicism.
Genet Med
; 22(11): 1743-1757, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32661356
12.
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Hepatology
; 70(3): 899-910, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30664273
13.
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Hum Mutat
; 40(12): 2197-2220, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31343788
14.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30287922
15.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30670880
16.
A genomic view of mosaicism and human disease.
Nat Rev Genet
; 14(5): 307-20, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23594909
17.
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.
Am J Hum Genet
; 97(1): 6-21, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26140447
18.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Genet Med
; 20(12): 1600-1608, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29595809
19.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(10): 1298, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30377334
20.
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(3): 329-336, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29389922