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1.
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Hum Mutat
; 40(7): 893-898, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30981218
2.
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Hum Mol Genet
; 25(19): 4302-4314, 2016 10 01.
Article
in English
| MEDLINE | ID: mdl-27506977
3.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24439109
4.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Am J Hum Genet
; 91(3): 553-64, 2012 Sep 07.
Article
in English
| MEDLINE | ID: mdl-22901947
5.
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Mol Genet Metab
; 113(1-2): 76-83, 2014.
Article
in English
| MEDLINE | ID: mdl-25087164
6.
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nat Genet
; 35(2): 185-9, 2003 Oct.
Article
in English
| MEDLINE | ID: mdl-14517542
7.
Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 159B(4): 392-404, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22419519
8.
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
Epilepsia
; 50(7): 1679-88, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19400876
9.
The longevity gene Klotho is differentially associated with cognition in subtypes of schizophrenia.
Schizophr Res
; 193: 348-353, 2018 03.
Article
in English
| MEDLINE | ID: mdl-28673754
10.
Whole genome sequencing of 91 multiplex schizophrenia families reveals increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity.
Schizophr Res
; 197: 337-345, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29486958
11.
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
Neurology
; 91(4): e339-e348, 2018 07 24.
Article
in English
| MEDLINE | ID: mdl-29950440
12.
Longevity Klotho gene polymorphism and the risk of dementia in older men.
Maturitas
; 101: 1-5, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28539162
13.
Exome array analysis suggests an increased variant burden in families with schizophrenia.
Schizophr Res
; 185: 9-16, 2017 07.
Article
in English
| MEDLINE | ID: mdl-27939555
14.
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Neurology
; 89(17): 1821-1828, 2017 Oct 24.
Article
in English
| MEDLINE | ID: mdl-28931644
15.
Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines.
Genom Data
; 9: 18-21, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27330997
16.
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Hum Mutat
; 22(2): 129-35, 2003 Aug.
Article
in English
| MEDLINE | ID: mdl-12872253
17.
Genealogy and genes: tracing the founding fathers of Tristan da Cunha.
Eur J Hum Genet
; 11(9): 705-9, 2003 Sep.
Article
in English
| MEDLINE | ID: mdl-12939658
18.
Deleterious GRM1 mutations in schizophrenia.
PLoS One
; 7(3): e32849, 2012.
Article
in English
| MEDLINE | ID: mdl-22448230
19.
The AQP1 del601G mutation in different European Romani (Gypsy) populations.
Blood Transfus
; 14(6): 580-581, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27177406
20.
Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3.
Epilepsy Res
; 96(1-2): 101-8, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21645995