Associated Papers
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.
Mokhtari A et al.
Clinical Genetics, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.
Zhu X et al.
Prenatal Diagnosis, 2025
A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.
Siu LL et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Isolated frontosphenoidal craniosynostosis with pathogenic FGFR3 variant: a case report and genetic insights.
Wei J et al.
Translational Pediatrics, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.
Yu F et al.
Briefings in Bioinformatics, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Treatment resistant depression: A case of Muenke syndrome.
Faugere M et al.
L'encephale, 2025
[A case report of Muenke syndrome with soft cleft palate and literature review].
Sun J et al.
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2025
FGFR3 gene mutations screening in non-muscle invasive bladder cancer (NMIBC) in the Tunisian population.
Saidani B et al.
Molecular Biology Reports, 2025
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.
Hashimoto AS et al.
Genetics in Medicine Open, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.
Li H et al.
Frontiers in Pediatrics, 2025
Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.
De Martino L et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2024
The Genetics of Chiari 1 Malformation.
Yan RE et al.
Journal of Clinical Medicine, 2024
Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.
Luo C et al.
Molecular Genetics & Genomic Medicine, 2024
Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.
Paltoglou G et al.
Children (basel, Switzerland), 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience.
Formicola D et al.
Frontiers in Neuroscience, 2024
Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
Zheng Z et al.
The Application of Clinical Genetics, 2024
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.
Hodapp M et al.
American Journal of Medical Genetics. Part A, 2023
Genetic architecture of non-syndromic skeletal class III malocclusion.
Zhou X et al.
Oral Diseases, 2023
Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?
Timberlake AT
Plastic and Reconstructive Surgery, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
Exome sequencing for structurally normal fetuses-yields and ethical issues.
Daum H et al.
European Journal of Human Genetics : Ejhg, 2023
Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report.
Chirteș C et al.
Frontiers in Genetics, 2023
FGF signaling in cranial suture development and related diseases.
Zhao X et al.
Frontiers in Cell and Developmental Biology, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
Xiang J et al.
Bmc Medical Genomics, 2022
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 2022
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.
Cassim A et al.
Orphanet Journal of Rare Diseases, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.
Salazar R et al.
Genome Research, 2022
Serial ctDNA analysis predicts clinical progression in patients with advanced urothelial carcinoma.
Shohdy KS et al.
British Journal of Cancer, 2022
Syndromic Hydrocephalus.
Varagur K et al.
Neurosurgery Clinics of North America, 2022
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E et al.
Frontiers in Molecular Biosciences, 2022