Ganeshwaran Mochida

Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC). Eye Brain. 2024; 16:55-63. View Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC). Abstract

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. Abstract

Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly. iScience. 2023 Jul 21; 26(7):106909. View Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly. Abstract

Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789. View Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Abstract

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248. View The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Abstract

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 11; 29(11):1663-1668. View Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Abstract

Zika Virus: Learning from the Past as We Prepare for the Future. J Pediatr. 2020 07; 222:15-16. View Zika Virus: Learning from the Past as We Prepare for the Future. 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. Genet Med. 2020 06; 22(6):1040-1050. View Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Abstract

Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. View Holoprosencephaly in Kabuki syndrome. Abstract

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell. 2019 12 16; 51(6):713-729.e6. View Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Abstract

Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika. Brain Dev. 2019 Aug; 41(7):587-594. View Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika. Abstract

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Am J Med Genet B Neuropsychiatr Genet. 2018 12; 177(8):736-745. View PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Abstract

Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016. Euro Surveill. 2018 11; 23(45). View Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016. Abstract

The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Rep. 2018 07 24; 24(4):973-986.e8. View The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Abstract

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat. 2017 10; 38(10):1348-1354. View Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Abstract

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017 08; 27(8):1323-1335. View Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Abstract

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 2016 Nov 23; 92(4):813-828. View Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Abstract

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proc Natl Acad Sci U S A. 2016 09 20; 113(38):E5598-607. View Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Abstract

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A. 2016 Feb; 170A(2):435-440. View Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Abstract

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 07; 96(5):709-19. View Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Abstract

Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50. View Loss of PCLO function underlies pontocerebellar hypoplasia type III. Abstract

Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. View Katanin p80 regulates human cortical development by limiting centriole and cilia number. Abstract

Neuropsychological function in a child with 18p deletion syndrome: a case report. Cogn Behav Neurol. 2014 Sep; 27(3):160-5. View Neuropsychological function in a child with 18p deletion syndrome: a case report. Abstract

Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis. N Engl J Med. 2014 Aug 28; 371(9):847-58. View Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis. Abstract

Studying rare genetic disorders in child neurology--the need for an international network of collaboration. Dev Med Child Neurol. 2014 May; 56(5):412. View Studying rare genetic disorders in child neurology--the need for an international network of collaboration. Abstract

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 03; 94(4):547-58. View Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Abstract

METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. View METTL23, a transcriptional partner of GABPA, is essential for human cognition. Abstract

Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 2014 Apr; 45(2):93-101. View Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Abstract

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013 Oct 15; 81(16):1378-86. View Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. 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. Hum Mutat. 2013 Mar; 34(3):498-505. View 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. Abstract

Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View Using whole-exome sequencing to identify inherited causes of autism. Abstract

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. View CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Abstract

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13; 88(5):536-47. View Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Abstract

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet. 2010 Dec 10; 87(6):882-9. View A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Abstract

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov; 42(11):1015-20. View Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Abstract

Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol. 2010 Apr; 67(4):516-25. View Developmental and degenerative features in a complicated spastic paraplegia. Abstract

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet. 2009 Dec; 85(6):897-902. View A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Abstract

Genetics and biology of microcephaly and lissencephaly. Semin Pediatr Neurol. 2009 Sep; 16(3):120-6. View Genetics and biology of microcephaly and lissencephaly. Abstract

[Molecular genetics of lissencephaly and microcephaly]. Brain Nerve. 2008 Apr; 60(4):437-44. View [Molecular genetics of lissencephaly and microcephaly]. Abstract

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. Am J Med Genet A. 2007 Dec 01; 143A(23):2761-7. View A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. Abstract

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. Am J Med Genet A. 2006 Jul 15; 140(14):1504-10. View An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. Abstract

ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet. 2005 Sep; 42(9):725-9. View ASPM mutations identified in patients with primary microcephaly and seizures. Abstract

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet. 2005 Aug 01; 14(15):2155-65. View The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Abstract

Cortical malformation and pediatric epilepsy: a molecular genetic approach. J Child Neurol. 2005 Apr; 20(4):300-3. View Cortical malformation and pediatric epilepsy: a molecular genetic approach. Abstract

Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet. 2004 Jun; 41(6):e87. View Broader geographical spectrum of Cohen syndrome due to COH1 mutations. Abstract

Genetic basis of developmental malformations of the cerebral cortex. Arch Neurol. 2004 May; 61(5):637-40. View Genetic basis of developmental malformations of the cerebral cortex. Abstract

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol. 2004 May; 2(5):E126. View Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. Abstract

Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 2003 Nov; 73(5):1170-7. View Protein-truncating mutations in ASPM cause variable reduction in brain size. Abstract

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 2003 May 27; 60(10):1664-7. View A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Abstract

ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct; 32(2):316-20. View ASPM is a major determinant of cerebral cortical size. Abstract

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001 Aug 15; 10(17):1775-83. View Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Abstract

Molecular genetics of human microcephaly. Curr Opin Neurol. 2001 Apr; 14(2):151-6. View Molecular genetics of human microcephaly. Abstract

A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. Keio J Med. 1999 Dec; 48(4):204-10. View A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. Abstract

Another case of internal carotid artery dissection after mandibular osteotomy. J Oral Maxillofac Surg. 1998 Jan; 56(1):115-6. View Another case of internal carotid artery dissection after mandibular osteotomy. Abstract