KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene, +36

Nature Genetics

Developmental AnomalyMendelian DisorderKif7 MutationsGenetic DisorderGenetics +3

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Elif Uz, Yasemin Alanay, Dilek Aktaş, +12

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyPathologyCraniofacial AnomaliesCraniofacial Development +4

Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases

Ghazi Chabchoub, Elif Uz, Abdellatif Maalej, +7

Arthritis Research & Therapy

CytogeneticsDisease EtiologyGeneticsImmunologyHuman Polymorphism +15

ALX4 dysfunction disrupts craniofacial and epidermal development

Hülya Kayserili, Elif Uz, Carien M. Niessen, +13

Human Molecular Genetics

Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity

Tayfun Özçelık, Elif Uz, Cemaliye Boylu Akyerli, +7

European Journal of Human Genetics

AllergyAutoimmune DiseaseThyroid DiseaseFemale PredispositionAutoimmunity +4

Mutations in the very low-density lipoprotein receptor <i>VLDLR</i> cause cerebellar hypoplasia and quadrupedal locomotion in humans

Tayfun Özçelık, Nurten Akarsu, Elif Uz, +5

Proceedings of the National Academy of Sciences

NeurogenomicsGeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene Identification +15

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Sevil Oskay Halaçlı, Deniz Çağdaş, Çağman Sun-Tan, +6

Clinical Immunology

Primary ImmunodeficiencyNovel MutationImmunogeneticsAutoimmune CytopeniasAutoimmune Disease +11

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

Carine Bonnard, Anna Strobl, Mohammad Shboul, +9

Nature Genetics

Cell LineageDevelopmental BiologyDevelopmental GeneticsGeneticsCraniofacial Development +7

Mutations in the interleukin receptor <i><scp>IL</scp>11<scp>RA</scp></i> cause autosomal recessive Crouzon‐like craniosynostosis

Katharina Keupp, Yun Li, İbrahim Vargel, +23

Molecular Genetics & Genomic Medicine

Extreme Clonality in Lymphoblastoid Cell Lines with Implications for Allele Specific Expression Analyses

Vincent Plagnol, Elif Uz, Chris Wallace, +4

PLoS ONE

GeneticsImmunologyImmunophenotypingMolecular GeneticsCell Specialization +14