Detalhe da pesquisa
1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
2.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751738
3.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
4.
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Nucleic Acids Res
; 52(4): e18, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38153174
5.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
6.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
7.
AD-Syn-Net: systematic identification of Alzheimer's disease-associated mutation and co-mutation vulnerabilities via deep learning.
Brief Bioinform
; 24(2)2023 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36752347
8.
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
9.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet
; 108(2): 337-345, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33434492
10.
aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants.
Bioinformatics
; 39(9)2023 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37688563
11.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med
; 25(2): 100323, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401616
12.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
13.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Am J Med Genet A
; 191(3): 794-804, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598158
14.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711075
15.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605855
16.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
J Allergy Clin Immunol
; 149(2): 758-766, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329649
17.
Myc and SAGA rewire an alternative splicing network during early somatic cell reprogramming.
Genes Dev
; 29(8): 803-16, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25877919
18.
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat
; 43(6): 782-790, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191117
19.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344616
20.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227688