Detalhe da pesquisa
1.
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
Brief Bioinform
; 23(2)2022 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224620
2.
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Hum Mol Genet
; 31(1): 1-9, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693784
3.
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Am J Hum Genet
; 106(1): 58-70, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883645
4.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
5.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
6.
Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Hum Mol Genet
; 29(7): 1132-1143, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129449
7.
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Hum Mol Genet
; 29(4): 618-623, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903486
8.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Am J Hum Genet
; 104(6): 1073-1087, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079899
9.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet
; 105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607425
10.
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Hum Mol Genet
; 28(6): 972-979, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481285
11.
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Am J Hum Genet
; 103(4): 568-578, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290152
12.
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.
Genome Res
; 28(1): 1-10, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237728
13.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
14.
Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma.
Haematologica
; 106(8): 2233-2241, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32675224
15.
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation.
Nature
; 526(7572): 212-7, 2015 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26416734
16.
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.
Proc Natl Acad Sci U S A
; 115(51): 13015-13020, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30510006
17.
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Hum Mol Genet
; 27(15): 2703-2711, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29771303
18.
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.
Am J Hum Genet
; 100(3): 444-453, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190458
19.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Genet Med
; 22(11): 1759-1767, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724172
20.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 508(7496): 345-50, 2014 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24740065