Detalhe da pesquisa
1.
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.
PLoS Genet
; 19(8): e1010889, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37578974
2.
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.
J Clin Immunol
; 44(3): 81, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38485795
3.
Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.
Hum Genomics
; 17(1): 88, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789421
4.
ATM c.7570G>C is a high-risk allele for breast cancer.
Int J Cancer
; 152(3): 429-435, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161273
5.
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Clin Immunol
; 246: 109181, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36356849
6.
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
J Clin Immunol
; 43(5): 1007-1018, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892687
7.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165955
8.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
9.
Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.
Vascular
; 30(5): 842-847, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281442
10.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Am J Hum Genet
; 102(6): 1204-1211, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861106
11.
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Acta Obstet Gynecol Scand
; 100(11): 2066-2075, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480341
12.
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
J Clin Rheumatol
; 27(8): e583-e587, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31977656
13.
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
J Clin Immunol
; 40(8): 1156-1162, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32936395
14.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 683-694, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545674
15.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693232
16.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
; 21(10): 2355-2363, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940925
17.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
18.
A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature.
BMC Infect Dis
; 19(1): 404, 2019 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077135
19.
Identification as a Mutation Carrier and Effects on Life According to Experiences of Finnish Male BRCA1/2 Mutation Carriers.
J Genet Couns
; 27(4): 874-884, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29332197
20.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 100(1): 179, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28061364