Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-36036223
2.
Human Mutation special issue on innovations in genomic diagnostics.
Hum Mutat
; 43(11): 1493-1494, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116036
3.
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
em Inglês
| MEDLINE | ID: mdl-35870179
4.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Mol Genet Metab
; 135(1): 93-101, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969639
5.
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
em Inglês
| MEDLINE | ID: mdl-32505743
6.
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
em Inglês
| MEDLINE | ID: mdl-33077891
7.
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
em Inglês
| MEDLINE | ID: mdl-33369123
8.
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
em Inglês
| MEDLINE | ID: mdl-30102696
9.
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
em Inglês
| MEDLINE | ID: mdl-31944481
10.
A six-attribute classification of genetic mosaicism.
Genet Med
; 22(11): 1743-1757, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32661356
11.
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
em Inglês
| MEDLINE | ID: mdl-30664273
12.
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
em Inglês
| MEDLINE | ID: mdl-31343788
13.
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
em Inglês
| MEDLINE | ID: mdl-30287922
14.
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
em Inglês
| MEDLINE | ID: mdl-30670880
15.
A genomic view of mosaicism and human disease.
Nat Rev Genet
; 14(5): 307-20, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23594909
16.
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
em Inglês
| MEDLINE | ID: mdl-26140447
17.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907799
18.
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Am J Hematol
; 93(1): 8-16, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960434
19.
Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.
Prenat Diagn
; 38(1): 26-32, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28345240
20.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861