Detalhe da pesquisa
1.
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Mol Genet Metab
; 142(1): 108362, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452609
2.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Genet Med
; 25(9): 100880, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158195
3.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334874
4.
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Am J Med Genet A
; 191(7): 1935-1941, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37031378
5.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563179
6.
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Sci Rep
; 13(1): 21540, 2023 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057357
7.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
medRxiv
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993157
8.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Eur J Hum Genet
; 31(10): 1117-1124, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37500725
9.
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022222
10.
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Sci Rep
; 12(1): 9358, 2022 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35672425
11.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med
; 7(1): 27, 2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395838
12.
Embryonic lethal genetic variants and chromosomally normal pregnancy loss.
Fertil Steril
; 116(5): 1351-1358, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34756330