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2025
Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol
BMC Oral Health
2024
Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors
Human Genomics
2024
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study
Pediatric Neurology
2024
Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage
Journal of Assisted Reproduction and Genetics
2024
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility
Reproductive Sciences
2024
Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia
Gene
2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Genome Medicine
2023
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification
Frontiers in Physiology
2023
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
International Journal of Molecular Sciences
2023
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy
Human Mutation
2023
A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest
Human Reproduction
2023
Telomere Length as a New Risk Marker of Early-Onset Colorectal Cancer
International Journal of Molecular Sciences
2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Science Advances
2022
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)
Genes
2021
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
neurogenetics
2021
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy
American Journal of Medical Genetics Part A
2021
Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association
Frontiers in Immunology
2021
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B
Genes
2021
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility
Genes
2020
NovelIQCEvariations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
Human Mutation
2020
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation
Frontiers in Genetics
2020
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
EMBO Molecular Medicine
2020
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
European Journal of Human Genetics
2020
Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect
Genes
2019
Methods in Molecular Biology
2019
Clinical and functional characterization of recurrent missense variants implicated inTHOC6-related intellectual disability
Human Molecular Genetics
2019
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome
Frontiers in Genetics
2019
VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants
Genomics, Proteomics & Bioinformatics
2019
214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015
Neuromuscular Disorders
2019
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Journal of Medical Genetics
2019
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
Frontiers in Genetics
2019
The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar
Molecular Genetics & Genomic Medicine
2019
Mutations inKARScause a severe neurological and neurosensory disease with optic neuropathy
Human Mutation
2019
2019 19th IEEE/ACM International Symposium on Cluster, Cloud and Grid Computing (CCGRID)
2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
The American Journal of Human Genetics
2019
ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)
Acta Neuropathologica
2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
European Journal of Human Genetics
2018
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis
The Journal of Molecular Diagnostics
2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Human Mutation
2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
European Journal of Human Genetics
2018
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
Frontiers in Physiology
2017
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
The American Journal of Human Genetics
2017
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Acta Neuropathologica
2017
SCA13 causes dominantly inherited non-progressive myoclonus ataxia
Parkinsonism & Related Disorders
2017
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family
Journal of Assisted Reproduction and Genetics
2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
European Journal of Human Genetics
2017
Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance
Human Mutation
2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Brain
2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
Journal of Human Genetics
2016
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
American Journal of Medical Genetics Part A
2016
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
Frontiers in Physiology
2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
The American Journal of Human Genetics
2016
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism
American Journal of Medical Genetics Part A
2016
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Journal of Medical Genetics
2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia
Journal of Neurology
2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
Journal of Neurology
2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Orphanet Journal of Rare Diseases
2016
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
Nature Communications
2016
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
eLife
2016
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)
European Journal of Human Genetics
2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
Human Molecular Genetics
2015
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy
European Journal of Medical Genetics
2015
Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths
Forensic Science International
2015
Exome sequencing reveals a nonsense mutation inTEX15causing spermatogenic failure in a Turkish family
Human Molecular Genetics
2015
A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy
Journal of Neuromuscular Diseases
2015
Alström Syndrome: Mutation Spectrum ofALMS1
Human Mutation
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