Detalhe da pesquisa
1.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic.
J Stroke Cerebrovasc Dis
; 32(8): 107225, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348440
2.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
3.
The rate of secondary genomic findings in the Saudi population.
Am J Med Genet A
; 188(1): 83-88, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515413
4.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
5.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875846
6.
Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family.
Clin Genet
; 100(5): 601-606, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272725
7.
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.
Ann Hum Genet
; 84(5): 370-379, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32401353
8.
Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Ann Hum Genet
; 84(6): 431-436, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533790
9.
The morbid genome of ciliopathies: an update.
Genet Med
; 22(6): 1051-1060, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32055034
10.
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Clin Genet
; 98(6): 555-561, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869858
11.
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.
Neurogenetics
; 20(2): 109-115, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30972502
12.
A new association between CDK5RAP2 microcephaly and congenital cataracts.
Ann Hum Genet
; 82(3): 165-170, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29271474
13.
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Genet Med
; 20(11): 1328-1333, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565419
14.
KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.
Am J Med Genet A
; 176(7): 1602-1609, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29736960
15.
The morbid genome of ciliopathies: an update.
Genet Med
; 24(4): 966, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394428
16.
Peeling skin syndrome associated with novel variant in FLG2 gene.
Am J Med Genet A
; 173(12): 3201-3204, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28884927
17.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480796
18.
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
Hum Genet
; 135(11): 1263-1268, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27481395
19.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
; 17(11): 880-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25611685
20.
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
; 17(4): 319, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25835197