Keng Wee Teik

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 64 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama et al. · Human Mutation · 2020 · 34 citations

Efficient Detection, Exome Sequencing, Genetics +19

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

Véronique Dutrannoy, Ilja Demuth, Ulrich Baumann et al. · Human Mutation · 2010 · 31 citations · Full text

Genome Instability, Nbs-like Phenotype, Mendelian Disorder +12

Novel biallelic <i><scp>SZT2</scp></i> mutations in 3 cases of early‐onset epileptic encephalopathy

Naomi Tsuchida, Mitsuko Nakashima, Akihiko Miyauchi et al. · Clinical Genetics · 2017 · 28 citations