Tatjana Bierhals

Phenotypic spectrum associated with <i>CASK</i> loss-of-function mutations

Ute Moog, Kerstin Kutsche, Fanny Kortüm et al. · Journal of Medical Genetics · 2011 · 138 citations

Life Sciences, Genetics, Medical Genetics +10

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Davut Pehli̇van, Yavuz Bayram, Nilay Güneş et al. · The American Journal of Human Genetics · 2019 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9