Detalhe da pesquisa
1.
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Hum Mol Genet
; 30(22): 2068-2081, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34170319
2.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
3.
GATA2 deficiency syndrome: A decade of discovery.
Hum Mutat
; 42(11): 1399-1421, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387894
4.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
J Med Genet
; 57(7): 454-460, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988067
5.
Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout.
Ann Rheum Dis
; 79(4): 536-544, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32114511
6.
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Am J Med Genet A
; 182(5): 1273-1277, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141698
7.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
8.
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Hum Mol Genet
; 24(7): 2000-10, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504045
9.
Human TLR10 is an anti-inflammatory pattern-recognition receptor.
Proc Natl Acad Sci U S A
; 111(42): E4478-84, 2014 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25288745
10.
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Haematologica
; 106(11): 3004-3007, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233450
11.
A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
Br J Haematol
; 190(5): e297-e301, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488879
12.
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
N Engl J Med
; 365(1): 54-61, 2011 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21714643
13.
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Am J Hum Genet
; 87(3): 418-23, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20817137
14.
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Am J Hum Genet
; 86(2): 240-7, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159111
15.
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Am J Hum Genet
; 87(6): 813-9, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21092923
16.
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.
Front Oncol
; 13: 1183318, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377909
17.
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Genome Biol
; 24(1): 118, 2023 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198692
18.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nat Med
; 29(1): 180-189, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658419
19.
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
J Bone Miner Res
; 38(5): 692-706, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896612
20.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Blood Adv
; 7(20): 6092-6107, 2023 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406166