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Author Details

Ganeshwaran H Mochida
Massachusetts General Hospital
1998
50
30
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37332674Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly.iScience2023
34413497Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.Eur J Hum Genet2021
32586516Zika Virus: Learning from the Past as We Prepare for the Future.J Pediatr2020
31846209Holoprosencephaly in Kabuki syndrome.Am J Med Genet A2020
32103185Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.Genet Med2020
30914212Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika.Brain Dev2019
31735666Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.Dev Cell2019
30421579PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.Am J Med Genet B Neuropsychiatr Genet2018
30044992The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.Cell Rep2018
30424827Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016.Euro Surveill2018
28630177Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome.Genome Res2017
28493438Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Hum Mutat2017
27601654Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.Proc Natl Acad Sci U S A2016
26463574Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.Am J Med Genet A2016
27974163Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.Neuron2016
25832664Loss of PCLO function underlies pontocerebellar hypoplasia type III.Neurology2015
25865492Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.Am J Hum Genet2015
24234199Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients.Neuropediatrics2014
25521379Katanin p80 regulates human cortical development by limiting centriole and cilia number.Neuron2014
25237747Neuropsychological function in a child with 18p deletion syndrome: a case report.Cogn Behav Neurol2014
25162892Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis.N Engl J Med2014
24656866Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.Am J Hum Genet2014
24724991Studying rare genetic disorders in child neurology--the need for an international network of collaboration.Dev Med Child Neurol2014
24501276METTL23, a transcriptional partner of GABPA, is essential for human cognition.Hum Mol Genet2014
23352163Using whole-exome sequencing to identify inherited causes of autism.Neuron2013
24078737Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.Neurology2013
23255084Delineation 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 Mutat2013
23023333CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.Nat Genet2012
21529751Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].Am J Hum Genet2011
20437587Developmental and degenerative features in a complicated spastic paraplegia.Ann Neurol2010
21109224A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.Am J Hum Genet2010
20890278Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.Nat Genet2010
19778709Genetics and biology of microcephaly and lissencephaly.Semin Pediatr Neurol2009
20004763A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.Am J Hum Genet2009
18421985[Molecular genetics of lissencephaly and microcephaly].Brain Nerve2008
17975804A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.Am J Med Genet A2007
16761294An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.Am J Med Genet A2006
15972725The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.Hum Mol Genet2005
16141009ASPM mutations identified in patients with primary microcephaly and seizures.J Med Genet2005
15921229Cortical malformation and pediatric epilepsy: a molecular genetic approach.J Child Neurol2005
15148137Genetic basis of developmental malformations of the cerebral cortex.Arch Neurol2004
15173253Broader geographical spectrum of Cohen syndrome due to COH1 mutations.J Med Genet2004
15045028Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.PLoS Biol2004
12771259A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.Neurology2003
14574646Protein-truncating mutations in ASPM cause variable reduction in brain size.Am J Hum Genet2003
12355089ASPM is a major determinant of cerebral cortical size.Nat Genet2002
11532987Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.Hum Mol Genet2001
11262728Molecular genetics of human microcephaly.Curr Opin Neurol2001
10638145A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans.Keio J Med1999
9437996Another case of internal carotid artery dissection after mandibular osteotomy.J Oral Maxillofac Surg1998
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Collaborators

Broad Institute of MIT and Harvard
Co-authored papers 32
Boston Children's Hospital
Co-authored papers 16
Co-authored papers 16
Harvard Medical School
Co-authored papers 7
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 6
Boston Children's Hospital
Co-authored papers 3
King Faisal Specialist Hospital and Research Center
Co-authored papers 3
University of Minnesota
Co-authored papers 3
Co-authored papers 2
Hamad Medical Corporation.
Co-authored papers 2
The University of Jordan
Co-authored papers 2
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Oncology R&D
Co-authored papers 2
National Cancer Institute
Co-authored papers 2
National Cancer Institute
Co-authored papers 2
Co-authored papers 2
National Jewish Health
Co-authored papers 2
National Institute of Environmental Health Sciences
Co-authored papers 2
Co-authored papers 2
Broad Institute of MIT and Harvard
Co-authored papers 2
Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
University of California San Francisco
Co-authored papers 2
Cardiovascular Research Institute
Co-authored papers 2
Monoceros Biosystems LLC
Co-authored papers 2
Korea Polar Research Institute
Co-authored papers 1
Loma Linda University Health
Co-authored papers 1
Zeynep Kamil Maternity and Children's Training and Research Hospital
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Boston Children's Hospital, Harvard Medical School
Co-authored papers 1
Massachusetts General Hospital, Harvard Medical School
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UCL Queen Square Institute of Neurology, University College London
Co-authored papers 1