Detalhe da pesquisa
1.
Exome variant discrepancies due to reference-genome differences.
Am J Hum Genet
; 108(7): 1239-1250, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34129815
2.
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Hum Mutat
; 43(12): 2033-2053, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054313
3.
A Genocentric Approach to Discovery of Mendelian Disorders.
Am J Hum Genet
; 105(5): 974-986, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668702
4.
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Hum Mutat
; 42(5): 577-591, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644933
5.
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Pediatr Diabetes
; 22(7): 960-968, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387403
6.
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Hum Mutat
; 41(12): 2094-2104, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32935419
7.
The phenotypic spectrum of Xia-Gibbs syndrome.
Am J Med Genet A
; 176(6): 1315-1326, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696776
8.
Hidden biases in germline structural variant detection.
Genome Biol
; 22(1): 347, 2021 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930391
9.
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
J Natl Cancer Inst
; 113(7): 875-883, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372952
10.
AHDC1 missense mutations in Xia-Gibbs syndrome.
HGG Adv
; 2(4)2021 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34950897
11.
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.
Nat Biotechnol
; 39(9): 1129-1140, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504351
12.
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
HGG Adv
; 2(1)2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33665635
13.
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
Cold Spring Harb Mol Case Stud
; 5(3)2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622101
14.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Ann Clin Transl Neurol
; 5(10): 1277-1285, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349862
15.
Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.
Nat Biotechnol
; 39(11): 1466, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34635840