Detalhe da pesquisa
1.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Am J Hum Genet
; 110(9): 1496-1508, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633279
2.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
3.
Interpreting variants in genes affected by clonal hematopoiesis in population data.
Hum Genet
; 2023 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739343
4.
Variant interpretation using population databases: Lessons from gnomAD.
Hum Mutat
; 43(8): 1012-1030, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859531
5.
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Am J Med Genet A
; 188(6): 1676-1687, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35166435
6.
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 597(7874): E3-E4, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373650
7.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Hum Genet
; 139(5): 575-592, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193685
8.
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Hum Mol Genet
; 26(6): 1070-1077, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158657
9.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
10.
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
Am J Med Genet A
; 176(6): 1405-1410, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663639
11.
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Prenat Diagn
; 37(11): 1146-1154, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28921562
12.
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.
BMC Pulm Med
; 16(1): 146, 2016 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27835950
13.
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Eur J Hum Genet
; 32(3): 333-341, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277488
14.
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
Sci Rep
; 13(1): 12856, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553382
15.
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
medRxiv
; 2023 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945502
16.
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
Genome Biol
; 21(1): 290, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33261648
17.
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
Eur J Med Genet
; 62(6): 103526, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125677
18.
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
Sci Rep
; 9(1): 10730, 2019 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341187