Santasree Banerjee

Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family

Jinxia An, Jie Yang, Yan Wang et al. · Frontiers in Genetics · 2019 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Whole exome sequencing identified a novel <i><scp>DAG</scp>1</i> mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy

Yi Dai, Shengran Liang, Xue Dong et al. · Journal of Cellular and Molecular Medicine · 2018 · 106 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Identification and functional characterization of mutations in <i>LPL</i> gene causing severe hypertriglyceridaemia and acute pancreatitis

Peng Han, Guohong Wei, Ke Cai et al. · Journal of Cellular and Molecular Medicine · 2020 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole exome sequencing identified a homozygous novel variant in <i>CEP290</i> gene causes Meckel syndrome

Rui Zhang, Shaoyun Chen, Peng Han et al. · Journal of Cellular and Molecular Medicine · 2019 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in <i><scp>STAG3</scp></i> that causes primary ovarian insufficiency

Wenjie He, Santasree Banerjee, Juan Du et al. · Clinical Genetics · 2017 · 102 citations

Medicine, Genetics, Molecular Genetics +15