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 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 35 citations

Life Sciences, Genetics, Molecular Genetics +16

<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 · 32 citations · Full text

Medicine, Genetics, Neurology +17

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew et al. · Orphanet Journal of Rare Diseases · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 24 citations

Life Sciences, Genetics, Molecular Genetics +17