Detalhe da pesquisa
1.
Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation.
Haematologica
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38618681
2.
Reprogramming human T cell function and specificity with non-viral genome targeting.
Nature
; 559(7714): 405-409, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29995861
3.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 405-411, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109420
4.
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
5.
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Hum Mutat
; 43(7): 950-962, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419889
6.
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Hematol Oncol
; 40(3): 475-478, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613340
7.
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Am J Med Genet A
; 185(3): 889-893, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369061
8.
Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Hum Mutat
; 41(5): 884-905, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027066
9.
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(8): 1288-1295, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32404922
10.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Genet Med
; 22(2): 336-344, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534211
11.
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Genet Med
; 22(3): 670-671, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844178
12.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Genet Med
; 21(1): 195-206, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915382
13.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Genet Med
; 21(1): 233-242, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907798
14.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Genet Med
; 21(1): 262-265, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30097611
15.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med
; 20(4): 464-469, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914269
16.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
J Hum Genet
; 63(3): 349-356, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279609
17.
FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Pediatr Diabetes
; 19(3): 388-392, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193502
18.
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Am J Med Genet A
; 173(5): 1378-1382, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371479
19.
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(7): 1133-1141, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32296163
20.
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
J Hum Genet
; 60(7): 363-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809939