Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencingSuzena Masih, Shubha R. Phadke, Kausik Mandal et al.|European Journal of Medical Genetics|2022Cited by 15
Homozygous Missense Variation in <b><i>PNPLA8</i></b> Causes Prenatal-Onset Severe NeurodegenerationSuzena Masih, Shubha R. Phadke, Amita Moirangthem|Molecular Syndromology|2021Cited by 13
<scp><i>COASY</i></scp> related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrumRatna Dua Puri, Samarth Kulshreshtha, Kausik Mandal et al.|American Journal of Medical Genetics Part A|2022Cited by 11
Renpenning syndrome in an Indian patientSuzena Masih, Shubha R. Phadke, Amita Moirangthem|American Journal of Medical Genetics Part A|2019Cited by 5
Twins with <scp>PEX7</scp> related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder <scp>9B</scp>Suzena Masih, Shubha R. Phadke, Amita Moirangthem|American Journal of Medical Genetics Part A|2021Cited by 3