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.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Genet Med
; 22(11): 1759-1767, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724172
15.
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
16.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
; 40(3): 267-280, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30520571
17.
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Am J Hum Genet
; 98(4): 615-26, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26996948
18.
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Genome Res
; 25(7): 948-57, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25917818
19.
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Genet Med
; 20(7): 778-784, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837161
20.
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.
Genome Res
; 24(2): 349-55, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24389049