Associated Papers
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Pongor LS et al.
Scientific Reports, 2020
Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.
Deng L et al.
National Science Review, 2019
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
Gomes JDA et al.
Scientific Reports, 2019
Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.
Arkoumanis PT et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 2018
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
Anorectal atresia and variants at predicted regulatory sites in candidate genes.
Carter TC et al.
Annals of Human Genetics, 2013
Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect.
Wang B et al.
International Journal of Cardiology, 2010
Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.
Wang B et al.
Molecular Human Reproduction, 2009
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
Paradisi I et al.
American Journal of Medical Genetics. Part A, 2007
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J et al.
Human Mutation, 2005
Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.
Chacón-Camacho ÓF et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0