Detalles de la búsqueda
1.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(4): 739-748, 2021 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33711248
2.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Genet Med
; 26(7): 101143, 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38641995
3.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Mov Disord
; 2024 Apr 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38581205
4.
Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.
Mol Biol Rep
; 51(1): 104, 2024 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38224417
5.
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
J Hum Genet
; 68(7): 469-475, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36864288
6.
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Clin Genet
; 104(3): 324-333, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37317634
7.
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Am J Med Genet A
; 191(9): 2376-2391, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37293956
8.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37711075
9.
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Am J Hum Genet
; 104(1): 94-111, 2019 01 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30609410
10.
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Mol Genet Genomics
; 297(6): 1601-1613, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-36002593
11.
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Am J Med Genet A
; 188(4): 1251-1258, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34913263
12.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Am J Med Genet A
; 188(2): 498-508, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34697879
13.
Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.
Int J Neurosci
; : 1-6, 2022 Jun 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35645363
14.
Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families.
Pak J Med Sci
; 38(1): 84-89, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35035405
15.
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Hum Genet
; 140(12): 1733-1751, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34647195
16.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34244665
17.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin Genet
; 100(4): 486-488, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34270086
18.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 109(3): 542-546, 2022 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35245475
19.
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
BMC Med Genet
; 21(1): 151, 2020 07 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-32682410
20.
Lipids as biomarkers of brain disorders.
Crit Rev Food Sci Nutr
; 60(3): 351-374, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-30614244