Detalhe da pesquisa
1.
Axenfeld-Rieger syndrome: more than meets the eye.
J Med Genet
; 60(4): 368-379, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882526
2.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS Genet
; 17(10): e1009848, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662339
3.
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Hum Mutat
; 43(9): 1183-1200, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35475527
4.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870179
5.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Genet Med
; 23(8): 1514-1521, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846581
6.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Genet Med
; 22(2): 336-344, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534211
7.
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Genet Med
; 22(3): 670-671, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844178
8.
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Am J Med Genet A
; 179(6): 927-935, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919572
9.
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
J Am Acad Dermatol
; 80(3): 617-625, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287322
10.
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Genet Med
; 20(4): 403-410, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837158
11.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300372
12.
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.
Am J Med Genet A
; 176(11): 2451-2455, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289605
13.
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Epilepsia
; 59(5): 1062-1071, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29655203
14.
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Genet Med
; 19(10): 1171-1178, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425981
15.
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med
; 19(8): 962, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777376
16.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
J Neurogenet
; 31(1-2): 30-36, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28460589
17.
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.
Pediatr Dermatol
; 34(5): e245-e248, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28730607
18.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
19.
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med
; 18(11): 1143-1150, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26986877
20.
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.
J Genet Couns
; 25(2): 337-43, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283062