Detalhe da pesquisa
1.
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Circulation
; 146(10): 724-739, 2022 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899625
2.
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Hum Mutat
; 43(9): 1333-1342, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819174
3.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet
; 105(5): 1040-1047, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630789
4.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
5.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
; 41(1): e63-e71, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33207932
6.
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457099
7.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
Am J Hum Genet
; 102(1): 133-141, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304371
8.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
9.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
10.
bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files.
Bioinformatics
; 34(7): 1224-1225, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29186339
11.
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Hum Mol Genet
; 24(10): 2757-63, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25650408
12.
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Hum Mutat
; 37(4): 354-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26751395
13.
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Am J Hum Genet
; 93(6): 1100-7, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268661
14.
mod_bio: Apache modules for Next-Generation sequencing data.
Bioinformatics
; 31(1): 112-3, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192739
15.
Spontaneous Akt2 deficiency in a colony of NOD mice exhibiting early diabetes.
Sci Rep
; 14(1): 9100, 2024 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643275
16.
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.
Stem Cell Res
; 77: 103396, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522388
17.
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Nat Commun
; 15(1): 3380, 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643172
18.
Mass spectrometry-based identification of native cardiac Nav1.5 channel α subunit phosphorylation sites.
J Proteome Res
; 11(12): 5994-6007, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23092124
19.
Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.
Bioinformatics
; 27(22): 3200-1, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21984761
20.
The Gene Wiki: community intelligence applied to human gene annotation.
Nucleic Acids Res
; 38(Database issue): D633-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19755503