Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
3.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
4.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
5.
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Am J Med Genet A
; 179(4): 570-578, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734472
6.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
7.
Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing.
Clin Chem
; 66(1): 48-51, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609848
8.
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
J Mol Diagn
; 25(7): 524-531, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088140
9.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483341
10.
Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism.
Am J Med Genet A
; 146A(2): 261-3, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18080325