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Publications by Zeynep Tümer

Diagnosis and Management of Cornelia De Lange Syndrome: First International Consensus Statement

Nature Reviews Genetics

Molecular Biology

English

A Germline Chromothripsis Event Stably Segregating in 11 Individuals Through Three Generations

Genetics in Medicine

English

Delineation of Phenotypes and Genotypes Related to Cohesin Structural Protein RAD21

English

No Evidence for Pathogenic Variants or Maternal Effect of ZFP57 as the Cause of Beckwith–Wiedemann Syndrome

European Journal of Human Genetics

English

Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability

European Journal of Human Genetics

English

Mosaic MECP2 Variants in Males With Classical Rett Syndrome Features, Including Stereotypical Hand Movements

Clinical Genetics

English

Is It a PathogenicATP7AVariation and Is It Menkes Disease?

Case Reports in Neurological Medicine

English

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

American Journal of Human Genetics

English

A 3.2 Mb Deletion on 18q12 in a Patient With Childhood Autism and High-Grade Myopia

European Journal of Human Genetics

English