Publications powered by Harvard Catalyst Profiles

1. Zika Virus: Learning from the Past as We Prepare for the Future. J Pediatr. 2020 07; 222:15-16. View abstract
2. 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
3. Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. View abstract
4. 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
5. Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika. Brain Dev. 2019 Aug; 41(7):587-594. View abstract
6. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. . 2018 12; 177(8):736-745. View abstract
7. Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016. Euro Surveill. 2018 11; 23(45). View abstract
8. 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
9. 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
10. 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
11. 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
12. 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
13. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. . 2016 Feb; 170A(2):435-440. View abstract
14. 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
15. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50. View abstract
16. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. View abstract
17. Neuropsychological function in a child with 18p deletion syndrome: a case report. Cogn Behav Neurol. 2014 Sep; 27(3):160-5. View abstract
18. 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
19. 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
20. 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
21. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. View abstract
22. Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 2014 Apr; 45(2):93-101. View abstract
23. 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
24. 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
25. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View abstract
26. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. View abstract
27. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13; 88(5):536-47. View abstract
28. 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
29. 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
30. Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol. 2010 Apr; 67(4):516-25. View abstract
31. 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
32. Genetics and biology of microcephaly and lissencephaly. Semin Pediatr Neurol. 2009 Sep; 16(3):120-6. View abstract
33. [Molecular genetics of lissencephaly and microcephaly]. Brain Nerve. 2008 Apr; 60(4):437-44. View abstract
34. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. . 2007 Dec 01; 143A(23):2761-7. View abstract
35. An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. . 2006 Jul 15; 140(14):1504-10. View abstract
36. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet. 2005 Sep; 42(9):725-9. View abstract
37. 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
38. Cortical malformation and pediatric epilepsy: a molecular genetic approach. J Child Neurol. 2005 Apr; 20(4):300-3. View abstract
39. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet. 2004 Jun; 41(6):e87. View abstract
40. Genetic basis of developmental malformations of the cerebral cortex. Arch Neurol. 2004 May; 61(5):637-40. View abstract
41. Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol. 2004 May; 2(5):E126. View abstract
42. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 2003 Nov; 73(5):1170-7. View abstract
43. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 2003 May 27; 60(10):1664-7. View abstract
44. ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct; 32(2):316-20. View abstract
45. 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
46. Molecular genetics of human microcephaly. Curr Opin Neurol. 2001 Apr; 14(2):151-6. View abstract
47. 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
48. Another case of internal carotid artery dissection after mandibular osteotomy. J Oral Maxillofac Surg. 1998 Jan; 56(1):115-6. View abstract