MEDICAL SERVICES
Specialties
Departments
Languages
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English
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Japanese
EDUCATION
Residency
- Massachusetts General Hospital , Boston , MA
Fellowship
- Massachusetts General Hospital , Boston , MA
CERTIFICATIONS
- American Board of Psychiatry and Neurology, Child and Adolescent Neurology
PUBLICATIONS
Publications powered by Harvard Catalyst Profiles
- Zika Virus: Learning from the Past as We Prepare for the Future. J Pediatr. 2020 07; 222:15-16. View abstract
- 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 Jun; 22(6):1040-1050. View abstract
- Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. View abstract
- Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell. 2019 12 16; 51(6):713-729.e6. View abstract
- Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika. Brain Dev. 2019 Aug; 41(7):587-594. View abstract
- PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. . 2018 12; 177(8):736-745. View abstract
- Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016. Euro Surveill. 2018 11; 23(45). View abstract
- The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Rep. 2018 07 24; 24(4):973-986.e8. View abstract
- Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat. 2017 10; 38(10):1348-1354. View abstract
- Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017 08; 27(8):1323-1335. View abstract
- Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 2016 Nov 23; 92(4):813-828. View abstract
- Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proc Natl Acad Sci U S A. 2016 09 20; 113(38):E5598-607. View abstract
- Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. . 2016 Feb; 170A(2):435-440. View abstract
- Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 07; 96(5):709-19. View abstract
- Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50. View abstract
- Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. View abstract
- Neuropsychological function in a child with 18p deletion syndrome: a case report. Cogn Behav Neurol. 2014 Sep; 27(3):160-5. View abstract
- 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 Aug 28; 371(9):847-58. View abstract
- Studying rare genetic disorders in child neurology--the need for an international network of collaboration. Dev Med Child Neurol. 2014 May; 56(5):412. View abstract
- Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 03; 94(4):547-58. View abstract
- METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. View abstract
- Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 2014 Apr; 45(2):93-101. View abstract
- Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013 Oct 15; 81(16):1378-86. View abstract
- 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 Mar; 34(3):498-505. View abstract
- Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View abstract
- CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. View abstract
- Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13; 88(5):536-47. View abstract
- 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 Dec 10; 87(6):882-9. View abstract
- Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov; 42(11):1015-20. View abstract
- Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol. 2010 Apr; 67(4):516-25. View abstract
- A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet. 2009 Dec; 85(6):897-902. View abstract
- Genetics and biology of microcephaly and lissencephaly. Semin Pediatr Neurol. 2009 Sep; 16(3):120-6. View abstract
- [Molecular genetics of lissencephaly and microcephaly]. Brain Nerve. 2008 Apr; 60(4):437-44. View abstract
- A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. . 2007 Dec 01; 143A(23):2761-7. View abstract
- An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. . 2006 Jul 15; 140(14):1504-10. View abstract
- ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet. 2005 Sep; 42(9):725-9. View abstract
- The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet. 2005 Aug 01; 14(15):2155-65. View abstract
- Cortical malformation and pediatric epilepsy: a molecular genetic approach. J Child Neurol. 2005 Apr; 20(4):300-3. View abstract
- Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet. 2004 Jun; 41(6):e87. View abstract
- Genetic basis of developmental malformations of the cerebral cortex. Arch Neurol. 2004 May; 61(5):637-40. View abstract
- Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol. 2004 May; 2(5):E126. View abstract
- Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 2003 Nov; 73(5):1170-7. View abstract
- A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 2003 May 27; 60(10):1664-7. View abstract
- ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct; 32(2):316-20. View abstract
- Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001 Aug 15; 10(17):1775-83. View abstract
- Molecular genetics of human microcephaly. Curr Opin Neurol. 2001 Apr; 14(2):151-6. View abstract
- A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. Keio J Med. 1999 Dec; 48(4):204-10. View abstract
- Another case of internal carotid artery dissection after mandibular osteotomy. J Oral Maxillofac Surg. 1998 Jan; 56(1):115-6. View abstract