<i>FOXF2</i>is required for cochlear development in humans and mice

Güney Bademci, Clemer Abad, Armağan İncesulu, +19

Human Molecular Genetics

GeneticsGenomic MechanismHuman CochleaGene CharacterizationMolecular Genetics +17

Determining host factors contributing to disease severity in a family cluster of 29 hospitalized SARS‐CoV‐2 patients: Could genetic factors be relevant in the clinical course of COVID‐19?

Hande İkitimur, Betül Börkü Uysal, Mahir Cengız, +7

Journal of Medical Virology

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

Megan McSherry, Katherine E. Masih, Nursel Elçioğlu, +11

PLoS ONE

GeneticsGenetic EpidemiologyWhole ExomePathologyMolecular Genetics +15

Dysfunction of <i>GRAP</i> , encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Chong Li, Güney Bademci, Oscar Diaz‐Horta, +13

Proceedings of the National Academy of Sciences

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

Güney Bademci, Clemer Abad, Filiz Başak Cengiz, +15

Journal of Clinical Investigation

Long-range Cis-regulatory ElementsEar DevelopmentGeneticsMolecular GeneticsEpigenetics +17

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

Saradadevi Thanikachalam, Elizabeth Hodapp, Ta Chen Chang, +9

Genes

A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation

Tuğçe Aksu Uzunhan, Nafiye Emel Çakar, Serhat Seyhan

Brain and Development

Genetic MimicMendelian DisorderGenetic DisorderGeneticsNeuroscience +7

The relationship between positivity for COVID-19 RT-PCR and symptoms, clinical findings, and mortality in Turkey

Erkan Özcan, Serap Yavuzer, Betül Börkü Uysal, +8

Expert Review of Molecular Diagnostics

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss

Memoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, +20

Journal of Human Genetics

Non-syndromic Hearing LossNext-generation SequencingGeneticsNon-coding VariantsAudiology +9