Detalhe da pesquisa
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
2.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Am J Hum Genet
; 105(5): 1005-1015, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630790
3.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448840
4.
Mutations in LRPAP1 are associated with severe myopia in humans.
Am J Hum Genet
; 93(2): 313-20, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830514
5.
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
J Med Genet
; 52(6): 400-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25748484
6.
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.
Hum Genet
; 134(8): 815-22, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25957586
7.
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
J Med Genet
; 51(4): 224-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24399846
8.
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
J Med Genet
; 50(7): 425-30, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23620220
9.
Molecular characterization of Joubert syndrome in Saudi Arabia.
Hum Mutat
; 33(10): 1423-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693042
10.
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.
Genet Med
; 14(12): 955-62, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22935719
11.
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.
Front Genet
; 13: 1007046, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36276984
12.
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
HGG Adv
; 3(4): 100132, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035248
13.
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Genome Med
; 11(1): 80, 2019 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31818324
14.
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Genome Med
; 11(1): 25, 2019 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31014393
15.
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
J Clin Endocrinol Metab
; 104(8): 3049-3067, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31042289
16.
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.
J Endocr Soc
; 2(10): 1100-1108, 2018 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30525125
17.
TLE6 mutation causes the earliest known human embryonic lethality.
Genome Biol
; 16: 240, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26537248
18.
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Cell Rep
; 10(2): 148-61, 2015 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25558065
19.
CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
J AAPOS
; 16(6): 571-2, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23158549
20.
Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype.
Ophthalmic Genet
; 35(3): 187-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23767995