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.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Cell
; 159(1): 200-214, 2014 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25259927
3.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
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.
Cloud-native distributed genomic pileup operations.
Bioinformatics
; 39(1)2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515465
6.
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
Hum Genet
; 142(6): 721-733, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37031326
7.
Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.
Pediatr Dev Pathol
; : 10935266231213464, 2023 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044468
8.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Am J Hum Genet
; 105(5): 1005-1015, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630790
9.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
10.
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Hum Genomics
; 15(1): 72, 2021 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930489
11.
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
Am J Med Genet A
; 188(5): 1420-1425, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35075769
12.
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Pancreatology
; 22(6): 713-718, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35773178
13.
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Pancreatology
; 22(5): 564-571, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589511
14.
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.
Int J Mol Sci
; 23(9)2022 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562925
15.
Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.
Hum Mutat
; 42(6): 694-698, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33739555
16.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Am J Hum Genet
; 103(2): 171-187, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032986
17.
Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.
Respir Res
; 22(1): 26, 2021 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478486
18.
Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.
Respir Res
; 22(1): 212, 2021 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34315444
19.
Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
Pancreatology
; 21(8): 1434-1442, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34538581
20.
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Hum Mol Genet
; 27(12): 2064-2075, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618029