Search details
1.
Syntaxin 4 is essential for hearing in human and zebrafish.
Hum Mol Genet
; 32(7): 1184-1192, 2023 03 20.
Article
in English
| MEDLINE | ID: mdl-36355422
2.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Article
in English
| MEDLINE | ID: mdl-34800363
3.
Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.
Am J Hum Genet
; 108(9): 1578-1589, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34265237
4.
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Am J Med Genet A
; 194(4): e63478, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-37975178
5.
Comparison of multiple imputation and other methods for the analysis of imputed genotypes.
BMC Genomics
; 24(1): 303, 2023 Jun 06.
Article
in English
| MEDLINE | ID: mdl-37277705
6.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Am J Hum Genet
; 106(2): 234-245, 2020 02 06.
Article
in English
| MEDLINE | ID: mdl-31928709
7.
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.
Clin Genet
; 104(4): 499-501, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37311648
8.
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Clin Genet
; 103(6): 704-708, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36861389
9.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Clin Genet
; 103(6): 699-703, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36807241
10.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34321324
11.
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
Ann Hum Genet
; 86(6): 291-296, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36039988
12.
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Hum Genet
; 141(3-4): 413-430, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-34291353
13.
A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data.
Am J Hum Genet
; 105(4): 822-835, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31585107
14.
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
J Med Genet
; 58(11): 743-751, 2021 11.
Article
in English
| MEDLINE | ID: mdl-32978268
15.
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
J Med Genet
; 58(7): 442-452, 2021 07.
Article
in English
| MEDLINE | ID: mdl-32709676
16.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33710394
17.
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Am J Hum Genet
; 102(4): 706-712, 2018 04 05.
Article
in English
| MEDLINE | ID: mdl-29625025
18.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34345025
19.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
J Hum Genet
; 66(12): 1169-1175, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34226616
20.
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
J Hum Genet
; 66(10): 1009-1018, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-33879837