| 37332674 | Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly. | iScience | 2023 |
| 34413497 | Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. | Eur J Hum Genet | 2021 |
| 32586516 | Zika Virus: Learning from the Past as We Prepare for the Future. | J Pediatr | 2020 |
| 31846209 | Holoprosencephaly in Kabuki syndrome. | Am J Med Genet A | 2020 |
| 32103185 | 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 |
| 30914212 | Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika. | Brain Dev | 2019 |
| 31735666 | Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. | Dev Cell | 2019 |
| 30421579 | PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. | Am J Med Genet B Neuropsychiatr Genet | 2018 |
| 30044992 | The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. | Cell Rep | 2018 |
| 30424827 | Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016. | Euro Surveill | 2018 |
| 28630177 | Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome. | Genome Res | 2017 |
| 28493438 | Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. | Hum Mutat | 2017 |
| 27601654 | Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. | Proc Natl Acad Sci U S A | 2016 |
| 26463574 | Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. | Am J Med Genet A | 2016 |
| 27974163 | Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. | Neuron | 2016 |
| 25832664 | Loss of PCLO function underlies pontocerebellar hypoplasia type III. | Neurology | 2015 |
| 25865492 | Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. | Am J Hum Genet | 2015 |
| 24234199 | Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. | Neuropediatrics | 2014 |
| 25521379 | Katanin p80 regulates human cortical development by limiting centriole and cilia number. | Neuron | 2014 |
| 25237747 | Neuropsychological function in a child with 18p deletion syndrome: a case report. | Cogn Behav Neurol | 2014 |
| 25162892 | 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 |
| 24656866 | Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. | Am J Hum Genet | 2014 |
| 24724991 | Studying rare genetic disorders in child neurology--the need for an international network of collaboration. | Dev Med Child Neurol | 2014 |
| 24501276 | METTL23, a transcriptional partner of GABPA, is essential for human cognition. | Hum Mol Genet | 2014 |
| 23352163 | Using whole-exome sequencing to identify inherited causes of autism. | Neuron | 2013 |
| 24078737 | Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. | Neurology | 2013 |
| 23255084 | 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 |
| 23023333 | CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. | Nat Genet | 2012 |
| 21529751 | Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. | Am J Hum Genet | 2011 |
| 20437587 | Developmental and degenerative features in a complicated spastic paraplegia. | Ann Neurol | 2010 |
| 21109224 | 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 |
| 20890278 | Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. | Nat Genet | 2010 |
| 19778709 | Genetics and biology of microcephaly and lissencephaly. | Semin Pediatr Neurol | 2009 |
| 20004763 | A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. | Am J Hum Genet | 2009 |
| 18421985 | [Molecular genetics of lissencephaly and microcephaly]. | Brain Nerve | 2008 |
| 17975804 | A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. | Am J Med Genet A | 2007 |
| 16761294 | An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. | Am J Med Genet A | 2006 |
| 15972725 | The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. | Hum Mol Genet | 2005 |
| 16141009 | ASPM mutations identified in patients with primary microcephaly and seizures. | J Med Genet | 2005 |
| 15921229 | Cortical malformation and pediatric epilepsy: a molecular genetic approach. | J Child Neurol | 2005 |
| 15148137 | Genetic basis of developmental malformations of the cerebral cortex. | Arch Neurol | 2004 |
| 15173253 | Broader geographical spectrum of Cohen syndrome due to COH1 mutations. | J Med Genet | 2004 |
| 15045028 | Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. | PLoS Biol | 2004 |
| 12771259 | A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. | Neurology | 2003 |
| 14574646 | Protein-truncating mutations in ASPM cause variable reduction in brain size. | Am J Hum Genet | 2003 |
| 12355089 | ASPM is a major determinant of cerebral cortical size. | Nat Genet | 2002 |
| 11532987 | Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. | Hum Mol Genet | 2001 |
| 11262728 | Molecular genetics of human microcephaly. | Curr Opin Neurol | 2001 |
| 10638145 | A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. | Keio J Med | 1999 |
| 9437996 | Another case of internal carotid artery dissection after mandibular osteotomy. | J Oral Maxillofac Surg | 1998 |