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Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

Neuron (Cambridge, Mass.), 2016-11, Vol.92 (4), p.813-828

2016

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Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

American journal of human genetics, 2014-04, Vol.94 (4), p.547-558

2014

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Genetics and Biology of Microcephaly and Lissencephaly

Seminars in pediatric neurology, 2009-09, Vol.16 (3), p.120-126

Mochida, Ganeshwaran H., MD, MMSc

2009

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Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

American journal of human genetics, 2011-05, Vol.88 (5), p.536-547

2011

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Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

American journal of human genetics, 2015-05, Vol.96 (5), p.709-719

2015

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Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

Neuron (Cambridge, Mass.), 2014-12, Vol.84 (6), p.1240-1257

2014

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Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

Human mutation, 2017-10, Vol.38 (10), p.1348-1354

2017

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Zika Virus: Learning from the Past as We Prepare for the Future

The Journal of pediatrics, 2020-07, Vol.222, p.15-16

Mochida, Ganeshwaran H.

2020

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A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

American journal of human genetics, 2010-12, Vol.87 (6), p.882-889

2010

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

Human molecular genetics, 2014-07, Vol.23 (13), p.3456-3466

2014

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

iScience, 2023-07, Vol.26 (7), p.106909-106909, Article 106909

2023

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The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein

Human molecular genetics, 2005-08, Vol.14 (15), p.2155-2165

2005

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Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

PLoS biology, 2004-05, Vol.2 (5), p.E126-0653

2004

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Holoprosencephaly in Kabuki syndrome

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.441-445

2020

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

Nature genetics, 2010-11, Vol.42 (11), p.1015-1020

2010

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Developmental and degenerative features in a complicated spastic paraplegia

Annals of neurology, 2010-04, Vol.67 (4), p.516-525

2010

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

Neurology, 2013-10, Vol.81 (16), p.1378

2013

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A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

American journal of human genetics, 2009-12, Vol.85 (6), p.897-902

2009

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

Proceedings of the National Academy of Sciences - PNAS, 2016-09, Vol.113 (38), p.E5598-E5607

2016

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

Developmental medicine and child neurology, 2014-05, Vol.56 (5), p.412-412

2014

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

European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1663-1668

2021

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PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-12, Vol.177 (8), p.736-745

2018

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

Nature genetics, 2012-11, Vol.44 (11), p.1260-1264

2012

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Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Genetics and Biology of Microcephaly and Lissencephaly

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

Zika Virus: Learning from the Past as We Prepare for the Future

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

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

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

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

Holoprosencephaly in Kabuki syndrome

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

Developmental and degenerative features in a complicated spastic paraplegia

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

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

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

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

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

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

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

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

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