Detalhe da pesquisa
1.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
J Pediatr
; 262: 113620, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473993
2.
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Hum Mutat
; 43(11): 1531-1544, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36086952
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Association of Enterovirus D68 with Acute Flaccid Myelitis, Philadelphia, Pennsylvania, USA, 2009-2018.
Emerg Infect Dis
; 25(9): 1676-1682, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31407660
9.
High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.
Nucleic Acids Res
; 45(9): e73, 2017 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28180280
10.
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
11.
Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing.
Clin Chem
; 2023 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170750
12.
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
13.
Flexible robust binder-free carbon nanotube membranes for solid state and microcapacitor application.
Nanotechnology
; 29(3): 035605, 2018 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29176049
14.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Hum Genomics
; 9: 15, 2015 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26187847
15.
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
Am J Med Genet A
; 170(3): 750-3, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26697755
16.
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.
Hum Mutat
; 36(6): 631-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25765999
17.
Loci influencing blood pressure identified using a cardiovascular gene-centric array.
Hum Mol Genet
; 22(8): 1663-78, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23303523
18.
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
Am J Hum Genet
; 91(5): 823-38, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063622
19.
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Am J Hum Genet
; 90(3): 410-25, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22325160
20.
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
Am J Hum Genet
; 88(1): 6-18, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21194676