Detalles de la búsqueda
1.
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.
Am J Med Genet A
; : e63609, 2024 Mar 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-38532509
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32738225
3.
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
Hum Mol Genet
; 27(18): 3177-3188, 2018 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29893856
4.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31723249
5.
A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.
J Hum Genet
; 65(5): 493-496, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-32127623
6.
Antidepressant-Associated Mania in Bipolar Disorder: A Review and Meta-analysis of Potential Clinical and Genetic Risk Factors.
J Clin Psychopharmacol
; 40(2): 180-185, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32134853
7.
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Ann Hum Genet
; 83(4): 278-284, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30868578
8.
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
Hum Genet
; 138(10): 1183-1200, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31471722
9.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Am J Hum Genet
; 99(4): 912-916, 2016 Oct 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27616480
10.
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 46-54, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30556376
11.
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
Hum Mutat
; 39(5): 717-728, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29431277
12.
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
J Hum Genet
; 61(10): 867-872, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27305979
13.
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
Sci Rep
; 14(1): 9230, 2024 04 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38649688
14.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Sci Rep
; 14(1): 570, 2024 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38177237
15.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
bioRxiv
; 2023 Oct 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37808686
16.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nat Cancer
; 4(2): 203-221, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36585449
17.
Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.
Genes (Basel)
; 13(9)2022 09 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36140801
18.
Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.
Genes (Basel)
; 13(1)2021 12 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35052391
19.
Exome sequencing identifies novel and known mutations in families with intellectual disability.
BMC Med Genomics
; 14(1): 211, 2021 08 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-34452636
20.
Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
J Genet
; 1002021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34470921