G. Mochida

S. Gabriel, C. Walsh, J. Ellison, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Priya S. Shah, Benjamin R. Arenkiel, J. Lupski, 2019, Developmental cell.

Ankle2, A Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway

J. Lupski, N. Krogan, B. Arenkiel, 2019, bioRxiv.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

C. Walsh, A. Barkovich, S. Tinschert, 2010, American journal of human genetics.

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

C. Walsh, K. Kosaki, G. Mochida, 2004, Journal of Medical Genetics.

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

C. Walsh, R. Folkerth, A. Barkovich, 2010, Nature Genetics.

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Michael E. Coulter, C. Walsh, C. Schubert, 2014, Human molecular genetics.

ASPM is a major determinant of cerebral cortical size

Alexander F. Markham, Emma Roberts, Christopher A. Walsh, 2002, Nature Genetics.

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Athar N. Malik, C. Walsh, L. Zon, 2012, Nature Genetics.

Neuropsychological function in a child with 18p deletion syndrome: a case report.

G. Mochida, E. Braaten, B. Willoughby, 2014, Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology.

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

C. Walsh, L. Zon, A. Munnich, 2014, American journal of human genetics.

Molecular genetics of human microcephaly

Christopher A. Walsh, C. Walsh, G. Mochida, 2001, Current opinion in neurology.

Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016

M. Reis, U. Kitron, G. Mochida, 2018, Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Michael E. Coulter, A. Barkovich, J. Stoler, 2015, American journal of human genetics.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Masahiko Watanabe, A. Barkovich, J. Stoler, 2013, Neurology.

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

R. Deberardinis, D. Housman, A. Barkovich, 2016, Proceedings of the National Academy of Sciences.

Genetic basis of developmental malformations of the cerebral cortex.

Christopher A Walsh, C. Walsh, G. Mochida, 2004, Archives of neurology.

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

C. Walsh, G. Gascon, F. Alkuraya, 2011, American journal of human genetics.

Protein-truncating mutations in ASPM cause variable reduction in brain size.

C. Walsh, R. Hennekam, C. Woods, 2003, American journal of human genetics.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

E. M. DeGennaro, Kiely N. James, Michael E. Coulter, 2020, Genetics in Medicine.

Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

A. Barkovich, J. Stoler, G. Mochida, 2016, American journal of medical genetics. Part A.

Posterior Fossa in Primary Microcephaly: Relationships between Forebrain and Mid-Hindbrain Size in 110 Patients

G. Mochida, J. Barkovich, C. Walsh, 2013, Neuropediatrics.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach

G. Mochida, 2004, Journal of child neurology.

Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly

Amanda J. Guise, Christoph N. Schlaffner, J. Steen, 2023, iScience.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

E. Tan, G. Mochida, M. Al-Saffar, 2021, European Journal of Human Genetics.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

[Molecular genetics of lissencephaly and microcephaly].

G. Mochida, 2008, Brain and nerve = Shinkei kenkyu no shinpo.

The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles

Maria K. Lehtinen, Michael E. Coulter, D. Haussler, 2018, Cell reports.

UvA-DARE (Digital The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles

Maria K. Lehtinen, Michael E. Coulter, D. Haussler, 2018 .

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

G. Gascon, F. Alkuraya, R. Hill, 2011, American journal of human genetics.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

S. Tinschert, G. Mochida, J. Partlow, 2010, American journal of human genetics.

Holoprosencephaly in Kabuki syndrome

G. Mochida, O. Bodamer, E. Yang, 2019, American journal of medical genetics. Part A.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Masahiko Watanabe, A. Barkovich, J. Stoler, 2013, Neurology.

Studying rare genetic disorders in child neurology – the need for an international network of collaboration

H. Chugani, G. Mochida, 2014, Developmental medicine and child neurology.