Search details
1.
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
Hum Mol Genet
; 27(4): 614-624, 2018 02 15.
Article
in English
| MEDLINE | ID: mdl-29272404
2.
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Am J Hum Genet
; 100(2): 364-370, 2017 Feb 02.
Article
in English
| MEDLINE | ID: mdl-28157540
3.
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Mol Cell
; 48(4): 641-6, 2012 Nov 30.
Article
in English
| MEDLINE | ID: mdl-23063529
4.
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Am J Hum Genet
; 99(4): 934-941, 2016 Oct 06.
Article
in English
| MEDLINE | ID: mdl-27616479
5.
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Hum Mutat
; 39(3): 415-432, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29235198
6.
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Am J Hum Genet
; 96(2): 295-300, 2015 Feb 05.
Article
in English
| MEDLINE | ID: mdl-25620207
7.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol
; 81(4): 597-603, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28253535
8.
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Am J Med Genet A
; 176(1): 187-193, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29160006
9.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A
; 176(11): 2259-2275, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30194818
10.
Cytogenetic analysis in fetuses with late onset abnormal sonographic findings.
J Perinat Med
; 46(9): 975-982, 2018 Nov 27.
Article
in English
| MEDLINE | ID: mdl-28915119
11.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
; 24(25): 7171-81, 2015 Dec 20.
Article
in English
| MEDLINE | ID: mdl-26443594
12.
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
Am J Hum Genet
; 94(1): 23-32, 2014 Jan 02.
Article
in English
| MEDLINE | ID: mdl-24360809
13.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet
; 40(9): 1113-8, 2008 Sep.
Article
in English
| MEDLINE | ID: mdl-18711368
14.
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Harefuah
; 156(4): 212-216, 2017 Apr.
Article
in Hebrew
| MEDLINE | ID: mdl-28551919
15.
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
Neurogenetics
; 17(4): 251-257, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27631729
16.
Mutations in PIK3R1 cause SHORT syndrome.
Am J Hum Genet
; 93(1): 158-66, 2013 Jul 11.
Article
in English
| MEDLINE | ID: mdl-23810382
17.
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
Am J Hum Genet
; 93(3): 524-9, 2013 Sep 05.
Article
in English
| MEDLINE | ID: mdl-23932106
18.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Am J Hum Genet
; 93(4): 727-34, 2013 Oct 03.
Article
in English
| MEDLINE | ID: mdl-24035193
19.
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Mol Genet Metab
; 117(1): 38-41, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26653794
20.
Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.
Acta Derm Venereol
; 96(7): 885-887, 2016 Nov 02.
Article
in English
| MEDLINE | ID: mdl-26984337