Muzhirah Haniffa

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

<i><scp>PLPBP</scp></i> mutations cause variable phenotypes of developmental and epileptic encephalopathy

Hiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita et al. · Epilepsia Open · 2018 · 31 citations · Full text

Oncologist-led <i>BRCA</i> counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes

Sook‐Yee Yoon, Siu Wan Wong, Joanna Lim et al. · Journal of Medical Genetics · 2021 · 23 citations

Pathogenic variants in the survival of motor neurons complex gene <scp> <i>GEMIN5</i> </scp> cause cerebellar atrophy

Ken Saida, Junya Tamaoki, Masayuki Sasaki et al. · Clinical Genetics · 2021 · 23 citations