Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family.
Haematologica
; 107(5): 1064-1071, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196169
3.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Hum Mutat
; 42(4): 373-377, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33492714
4.
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
5.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genet Med
; 23(10): 1912-1921, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113010
6.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clin Genet
; 100(3): 329-333, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037256
7.
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
8.
LARS2-Perrault syndrome: a new case report and literature review.
BMC Med Genet
; 21(1): 109, 2020 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32423379
9.
SCN8A heterozygous variants are associated with anoxic-epileptic seizures.
Am J Med Genet A
; 182(5): 1209-1216, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040247
10.
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Am J Med Genet A
; 182(9): 2129-2132, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627382
11.
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
12.
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
13.
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.
Pediatr Diabetes
; 20(3): 366-369, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684292
14.
Biased allelic expression in human primary fibroblast single cells.
Am J Hum Genet
; 96(1): 70-80, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557783
15.
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
16.
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
J Hum Genet
; 63(7): 847-850, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29717186
17.
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.
PLoS Genet
; 11(1): e1004958, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634236
18.
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
Hum Mol Genet
; 24(11): 3143-54, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701871
19.
Galanin pathogenic mutations in temporal lobe epilepsy.
Hum Mol Genet
; 24(11): 3082-91, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691535
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