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1.
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.
Hum Mol Genet
; 30(24): 2393-2401, 2021 11 30.
Article
in English
| MEDLINE | ID: mdl-34274969
2.
Proteome profiling of salivary small extracellular vesicles in glioblastoma patients.
Cancer
; 129(18): 2836-2847, 2023 09 15.
Article
in English
| MEDLINE | ID: mdl-37254878
3.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Hum Mol Genet
; 29(22): 3662-3678, 2020 12 04.
Article
in English
| MEDLINE | ID: mdl-33276377
4.
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.
PLoS Genet
; 15(4): e1008038, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30946743
5.
Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis.
Ann Rheum Dis
; 80(9): 1168-1174, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34161253
6.
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Nature
; 526(7571): 112-7, 2015 Oct 01.
Article
in English
| MEDLINE | ID: mdl-26367794
7.
Correction: Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.
PLoS Genet
; 14(3): e1007257, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29494589
8.
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
N Engl J Med
; 377(6): 544-552, 2017 08 10.
Article
in English
| MEDLINE | ID: mdl-28792876
9.
Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.
PLoS Genet
; 13(8): e1006866, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28806749
10.
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.
Pediatr Diabetes
; 20(1): 57-64, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30191644
11.
HLA and KIR Associations of Cervical Neoplasia.
J Infect Dis
; 218(12): 2006-2015, 2018 11 05.
Article
in English
| MEDLINE | ID: mdl-30099516
12.
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Hum Mol Genet
; 24(5): 1234-42, 2015 Mar 01.
Article
in English
| MEDLINE | ID: mdl-25343988
13.
Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.
Hum Mol Genet
; 24(16): 4710-27, 2015 Aug 15.
Article
in English
| MEDLINE | ID: mdl-25941324
14.
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
Am J Med Genet A
; 173(6): 1698-1704, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28422394
15.
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
J Med Genet
; 53(7): 457-64, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27068007
16.
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
Hum Mutat
; 37(7): 695-702, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27038415
17.
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
Hum Mol Genet
; 23(7): 1923-33, 2014 Apr 01.
Article
in English
| MEDLINE | ID: mdl-24249740
18.
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
Hum Mol Genet
; 23(11): 3054-68, 2014 Jun 01.
Article
in English
| MEDLINE | ID: mdl-24430505
19.
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
Am J Hum Genet
; 93(3): 515-23, 2013 Sep 05.
Article
in English
| MEDLINE | ID: mdl-23910462
20.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 93(5): 932-44, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24183451