Search details
1.
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Am J Med Genet A
; 194(4): e63498, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38129970
2.
Clinical, genetic, and functional characterization of the glycine receptor ß-subunit A455P variant in a family affected by hyperekplexia syndrome.
J Biol Chem
; 298(7): 102018, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35526563
3.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37119330
4.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34989426
5.
Genetics of ataxia telangiectasia in a highly consanguineous population.
Ann Hum Genet
; 86(1): 34-44, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34582042
6.
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Clin Genet
; 99(5): 724-731, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33506509
7.
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).
BMC Neurol
; 20(1): 207, 2020 May 25.
Article
in English
| MEDLINE | ID: mdl-32450808
8.
A new association between CDK5RAP2 microcephaly and congenital cataracts.
Ann Hum Genet
; 82(3): 165-170, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29271474
9.
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Cerebellum
; 17(3): 276-285, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29196973
10.
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Am J Med Genet A
; 176(3): 715-721, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29383837
11.
Molecular and clinical spectra of FBXL4 deficiency.
Hum Mutat
; 38(12): 1649-1659, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28940506
12.
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
Clin Endocrinol (Oxf)
; 87(1): 103-112, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28383812
13.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Brain
; 144(10): e85, 2021 11 29.
Article
in English
| MEDLINE | ID: mdl-34373908
14.
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.
J Med Genet
; 53(11): 786-792, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27582084
15.
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Hum Mol Genet
; 23(13): 3456-66, 2014 Jul 01.
Article
in English
| MEDLINE | ID: mdl-24501276
16.
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Am J Hum Genet
; 93(4): 721-6, 2013 Oct 03.
Article
in English
| MEDLINE | ID: mdl-24075186
17.
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
BMC Med Genet
; 17: 3, 2016 Jan 14.
Article
in English
| MEDLINE | ID: mdl-26768247
18.
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
J Med Genet
; 52(3): 186-94, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25539947
19.
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Genet Med
; 17(9): 719-25, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25503496
20.
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
Acta Neuropathol
; 139(4): 791-794, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32006098