Ganeshwaran Mochida, MD
Attending Physician, Division of Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
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Ganeshwaran Mochida, MD
Attending Physician, Division of Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Japanese
Education
Residency
Massachusetts General Hospital
Boston
MA
Fellowship
Massachusetts General Hospital
Boston
MA
Certifications
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
Publications
Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC). View Abstract
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. View Abstract
Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly. View Abstract
Bi-allelic variants in INTS11 are associated with a complex neurological disorder. View Abstract
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. View Abstract
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. View Abstract
Zika Virus: Learning from the Past as We Prepare for the Future. View Abstract
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. View Abstract
Holoprosencephaly in Kabuki syndrome. View Abstract
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. View Abstract
Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika. View Abstract
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. View Abstract
Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016. View Abstract
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. View Abstract
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. View Abstract
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. View Abstract
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. View Abstract
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. View Abstract
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. View Abstract
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. View Abstract
Loss of PCLO function underlies pontocerebellar hypoplasia type III. View Abstract
Katanin p80 regulates human cortical development by limiting centriole and cilia number. View Abstract
Neuropsychological function in a child with 18p deletion syndrome: a case report. View Abstract
Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis. View Abstract
Studying rare genetic disorders in child neurology--the need for an international network of collaboration. View Abstract
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. View Abstract
METTL23, a transcriptional partner of GABPA, is essential for human cognition. View Abstract
Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. View Abstract
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. View Abstract
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. View Abstract
Using whole-exome sequencing to identify inherited causes of autism. View Abstract
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. View Abstract
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. View Abstract
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. View Abstract
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. View Abstract
Developmental and degenerative features in a complicated spastic paraplegia. View Abstract
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. View Abstract
Genetics and biology of microcephaly and lissencephaly. View Abstract
[Molecular genetics of lissencephaly and microcephaly]. View Abstract
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. View Abstract
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. View Abstract
ASPM mutations identified in patients with primary microcephaly and seizures. View Abstract
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. View Abstract
Cortical malformation and pediatric epilepsy: a molecular genetic approach. View Abstract
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. View Abstract
Genetic basis of developmental malformations of the cerebral cortex. View Abstract
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. View Abstract
Protein-truncating mutations in ASPM cause variable reduction in brain size. View Abstract
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. View Abstract
ASPM is a major determinant of cerebral cortical size. View Abstract
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. View Abstract
Molecular genetics of human microcephaly. View Abstract
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. View Abstract
Another case of internal carotid artery dissection after mandibular osteotomy. View Abstract