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G. Mochida · SciRah

Researcher profile · Semantic Scholar

G. Mochida

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G. Mochida — researcher profile on SciRah

h-index: 34
Works: 76
Citations: 4,831

Most-cited papers

ASPM is a major determinant of cerebral cortical size
J. Bond, E. Roberts, G. Mochida, D. J. Hampshire +8 more
2002Nature Genetics583 citations
Semantic Scholar
Using whole exome sequencing to identify inherited causes of autism
Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter, S. Jiralerspong +45 more
2013Neuron452 citations Open access
Semantic Scholar
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
Timothy W. Yu, G. Mochida, D. Tischfield, Sema K. Sgaier +11 more
2010Nature Genetics305 citations Open access
Semantic Scholar
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
V. Sheen, P. Dixon, Jeremy W. Fox, Susan E. Hong +26 more
2001Human Molecular Genetics282 citations Open access
Semantic Scholar
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
F. Alkuraya, Xuyu Cai, C. Emery, G. Mochida +11 more
2011American Journal of Human Genetics215 citations Open access
Semantic Scholar
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
N. Kouprina, A. Pavlı́ček, N. Collins, M. Nakano +14 more
2005Human Molecular Genetics201 citations Open access
Semantic Scholar
Protein-truncating mutations in ASPM cause variable reduction in brain size.
J. Bond, S. Scott, D. J. Hampshire, K. Springell +13 more
2003American Journal of Human Genetics188 citations Open access
Semantic Scholar
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
N. Kouprina, A. Pavlı́ček, G. Mochida, G. Solomon +9 more
2004PLoS Biology187 citations Open access
Semantic Scholar
Molecular genetics of human microcephaly
G. Mochida, C. Walsh
2001Current Opinion in Neurology184 citations
Semantic Scholar
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
G. Mochida, M. Mahajnah, Anthony D. Hill, L. Basel-Vanagaite +6 more
2009American Journal of Human Genetics153 citations Open access
Semantic Scholar
Microcephaly proteins Wdr62 and Aspm define a mother centriole complex regulating centriole biogenesis, apical complex and cell fate
D. Jayaraman, Andrew Kodani, Dilenny M. Gonzalez, J. Mancias +9 more
2016Neuron134 citations Open access
Semantic Scholar
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Xiao-Chang Zhang, Jiqiang Ling, G. Barcia, Li-Li Jing +21 more
2014American Journal of Human Genetics134 citations Open access
Semantic Scholar
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
G. Mochida, V. Ganesh, Jillian M. Felie, Danielle Gleason +12 more
2010American Journal of Human Genetics108 citations Open access
Semantic Scholar
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles
Michael E. Coulter, C. Dorobantu, G. A. Lodewijk, François Delalande +21 more
2018Cell Reports104 citations Open access
Semantic Scholar
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
G. Mochida, V. Ganesh, M. D. de Michelena, H. Dias +17 more
2012Nature Genetics102 citations Open access
Semantic Scholar
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans
L. B. Hills, Amira T. Masri, Kotaro Konno, W. Kakegawa +12 more
2013Neurology99 citations Open access
Semantic Scholar
Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly.
Nichole Link, Hyung-Lok Chung, Angad Jolly, Marjorie A. Withers +15 more
2019Developmental Cell95 citations Open access
Semantic Scholar
Genetics and biology of microcephaly and lissencephaly
G. Mochida
2009Seminars in Pediatric Neurology93 citations Open access
Semantic Scholar
Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number
Wen F. Hu, Oz Pomp, T. Ben-Omran, Andrew Kodani +20 more
2014Neuron88 citations Open access
Semantic Scholar
Genetic basis of developmental malformations of the cerebral cortex.
G. Mochida, C. Walsh
2004Archives of Neurology84 citations Open access
Semantic Scholar
ASPM mutations identified in patients with primary microcephaly and seizures
Jun Shen, W. Eyaid, G. Mochida, Fatmah Almoayad +3 more
2005Journal of Medical Genetics79 citations Open access
Semantic Scholar
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Tojo Nakayama, A. Al-Maawali, Malak El-Quessny, A. Rajab +18 more
2015American Journal of Human Genetics74 citations Open access
Semantic Scholar
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy
Tojo Nakayama, Jiang Wu, P. Galvin-Parton, J. Weiss +9 more
2017Human Mutation64 citations Open access
Semantic Scholar
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
Qing Ouyang, Tojo Nakayama, Ozan Baytas, Shawn M. Davidson +25 more
2016Proceedings of the National Academy of Sciences of the United States of America63 citations Open access
Semantic Scholar
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
A. Rajab, G. Mochida, Anthony D. Hill, V. Ganesh +5 more
2003Neurology63 citations
Semantic Scholar
Loss of PCLO function underlies pontocerebellar hypoplasia type III
M. Ahmed, B. Chioza, A. Rajab, K. Schmitz-Abe +14 more
2015Neurology61 citations Open access
Semantic Scholar
Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika.
Alessandra Carvalho, C. Brites, G. Mochida, P. Ventura +8 more
2019Brain & development (Tokyo. 1979)59 citations
Semantic Scholar
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Rachel E. Reiff, Bassam R. Ali, Byron Baron, Timothy W. Yu +18 more
2014Human Molecular Genetics50 citations Open access
Semantic Scholar
Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures
A. Al-Maawali, B. Barry, A. Rajab, Malak El-Quessny +7 more
2015American Journal of Medical Genetics. Part A48 citations Open access
Semantic Scholar
Broader geographical spectrum of Cohen syndrome due to COH1 mutations
G. Mochida, A. Rajab, W. Eyaid, A. Lu +8 more
2004Journal of Medical Genetics46 citations Open access
Semantic Scholar
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
Nadia A. Akawi, F. Canpolat, S. White, Josep Quilis-Esquerra +6 more
2013Human Mutation42 citations Open access
Semantic Scholar
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
R. Khalil, Connor J. Kenny, R. Hill, G. Mochida +12 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics40 citations Open access
Semantic Scholar
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome
Gilad D. Evrony, Dwight R. Cordero, Jun Shen, Jennifer N. Partlow +30 more
2017Genome Research39 citations Open access
Semantic Scholar
Developmental and degenerative features in a complicated spastic paraplegia
M. Manzini, A. Rajab, T. M. Maynard, G. Mochida +10 more
2009Annals of Neurology38 citations Open access
Semantic Scholar
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Burak Tepe, E. Macke, M. Niceta, Monika Weisz Hubshman +37 more
2023American Journal of Human Genetics34 citations Open access
Semantic Scholar
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Shyam K. Akula, Allen Y. Chen, J. E. Neil, Diane D. Shao +31 more
2023JAMA Neurology31 citations Open access
Semantic Scholar
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation
A. Rajab, S. Yoo, Aiman Abdulgalil, Salem Kathiri +5 more
2006American Journal of Medical Genetics. Part A31 citations Open access
Semantic Scholar
Open Peer Review Case Report: Compound Heterozygous Nonsense Mutations in Are Associated with Microcephaly, Delayed Trmt10a Development, and Periventricular White Matter Hyperintensities [version 1; Referees: 2 Approved]
Philadelphia Usa, G. Mochida, M. Narayanan, K. Ramsey +6 more
24 citations
Semantic Scholar
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
Michael E. Coulter, D. Musaev, Ellen M. DeGennaro, Xiao-Chang Zhang +20 more
2020Genetics in Medicine23 citations Open access
Semantic Scholar
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
Abbe Lai, Aubrie Soucy, C. E. El Achkar, A. Barkovich +19 more
2022Genetics in Medicine21 citations Open access
Semantic Scholar
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia
A. Rajab, M. Manzini, G. Mochida, C. A. Walsh +1 more
2007American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016
M. Kikuti, C. W. Cardoso, A. P. Prates, Igor A. D. Paploski +4 more
2018Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin15 citations Open access
Semantic Scholar
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
N. Haag, E. Tan, M. Begemann, L. Buschmann +13 more
2021European Journal of Human Genetics13 citations Open access
Semantic Scholar
Posterior Fossa in Primary Microcephaly: Relationships between Forebrain and Mid-Hindbrain Size in 110 Patients
Y. Adachi, G. Mochida, Christopher A. Walsh, J. Barkovich
2013Neuropediatrics8 citations Open access
Semantic Scholar
Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly
Kimino Fujimura, Amanda J. Guise, Tojo Nakayama, Christoph N. Schlaffner +14 more
2023iScience7 citations Open access
Semantic Scholar
Neuropsychological Function in a Child with 18p Deletion Syndrome: A Case Report
B. Willoughby, Marcus Favero, G. Mochida, E. Braaten
2014Cognitive and Behavioral Neurology7 citations Open access
Semantic Scholar
Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach
G. Mochida
2004Journal of Child Neurology6 citations
Semantic Scholar
Holoprosencephaly in Kabuki syndrome
T. Daly, A. Roberts, E. Yang, G. Mochida +1 more
2019American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis.
I. Sahai, G. Mochida, E. Grabowski, P. Caruso
2014New England Journal of Medicine5 citations
Semantic Scholar
Genetic Disorders of Cerebral Cortical Development
G. Mochida, A. Poduri, C. Walsh
20135 citations
Semantic Scholar

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Michael E. Coulter×6

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