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Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016.
Published in:
Eurosurveillance (15607917), 2018, v. 23, n. 45, p. 44, doi. 10.2807/1560-7917.ES.2018.23.45.1700757
By:
- Kikuti, Mariana;
- Cardoso, Cristiane W.;
- Prates, Ana P. B.;
- Paploski, Igor A. D.;
- Kitron, Uriel;
- Reis, Mitermayer G.;
- Mochida, Ganeshwaran H.;
- Ribeiro, Guilherme S.
Publication type:
Article
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 736, doi. 10.1002/ajmg.b.32688
By:
- Khalil, Raida;
- Kenny, Connor;
- Hill, R. Sean;
- Mochida, Ganeshwaran H.;
- Nasir, Ramzi;
- Partlow, Jennifer N.;
- Barry, Brenda J.;
- Al‐Saffar, Muna;
- Egan, Chloe;
- Stevens, Christine R.;
- Gabriel, Stacey B.;
- Barkovich, A. James;
- Ellison, Jay W.;
- Al‐Gazali, Lihadh;
- Walsh, Christopher A.;
- Chahrour, Maria H.
Publication type:
Article
Holoprosencephaly in Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 441, doi. 10.1002/ajmg.a.61454
By:
- Daly, Tara;
- Roberts, Abra;
- Yang, Edward;
- Mochida, Ganeshwaran H.;
- Bodamer, Olaf
Publication type:
Article
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 435, doi. 10.1002/ajmg.a.37422
By:
- Al‐Maawali, Almundher;
- Barry, Brenda J.;
- Rajab, Anna;
- El‐Quessny, Malak;
- Seman, Ann;
- Coury, Stephanie Newton;
- Barkovich, A. James;
- Yang, Edward;
- Walsh, Christopher A.;
- Mochida, Ganeshwaran H.;
- Stoler, Joan M.
Publication type:
Article
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1260, doi. 10.1038/ng.2425
By:
- Mochida, Ganeshwaran H;
- Ganesh, Vijay S;
- de Michelena, Maria I;
- Dias, Hugo;
- Atabay, Kutay D;
- Kathrein, Katie L;
- Huang, Hsuan-Ting;
- Hill, R Sean;
- Felie, Jillian M;
- Rakiec, Daniel;
- Gleason, Danielle;
- Hill, Anthony D;
- Malik, Athar N;
- Barry, Brenda J;
- Partlow, Jennifer N;
- Tan, Wen-Hann;
- Glader, Laurie J;
- Barkovich, A James;
- Dobyns, William B;
- Zon, Leonard I
Publication type:
Article
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Published in:
Nature Genetics, 2010, v. 42, n. 11, p. 1015, doi. 10.1038/ng.683
By:
- Yu, Timothy W.;
- Mochida, Ganeshwaran H.;
- Tischfield, David J.;
- Sgaier, Sema K.;
- Flores-Sarnat, Laura;
- Sergi, Consolato M.;
- Topçu, Meral;
- McDonald, Marie T.;
- Barry, Brenda J.;
- Felie, Jillian M.;
- Sunu, Christine;
- Dobyns, William B;
- Folkerth, Rebecca D;
- Barkovich, A. James;
- Walsh, Christopher A.
Publication type:
Article
Studying rare genetic disorders in child neurology - the need for an international network of collaboration.
Published in:
2014
By:
- Mochida, Ganeshwaran H;
- Chugani, Harry
Publication type:
Editorial
Developmental and degenerative features in a complicated spastic paraplegia.
Published in:
Annals of Neurology, 2010, v. 67, n. 4, p. 516, doi. 10.1002/ana.21923
By:
- Manzini, M. Chiara;
- Rajab, Anna;
- Maynard, Thomas M.;
- Mochida, Ganeshwaran H.;
- Tan, Wen-Hann;
- Nasir, Ramzi;
- Hill, R. Sean;
- Gleason, Danielle;
- Al Saffar, Muna;
- Partlow, Jennifer N.;
- Barry, Brenda J.;
- Vernon, Mike;
- LaMantia, Anthony-Samuel;
- Walsh, Christopher A.
Publication type:
Article
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion.
Published in:
PLoS Biology, 2004, v. 2, n. 5, p. 653, doi. 10.1371/journal.pbio.0020126
By:
- Kouprina, Natalay;
- Pavlicek, Adam;
- Mochida, Ganeshwaran H.;
- Solomon, Gregory;
- Gersch, William;
- Young-Ho Yoon;
- Collura, Randall;
- Ruvolo, Maryellen;
- Barrett, J. Carl;
- Woods, C. Geoffrey;
- Walsh, Christopher A.;
- Jurka, Jerzy;
- Larionov, Vladimir
Publication type:
Article
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion.
Published in:
PLoS Biology, 2004, v. 2, n. 3, p. 1, doi. 10.1371/journal.pbio.0020126
By:
- Kouprina, Natalay;
- Pavlicek, Adam;
- Mochida, Ganeshwaran H;
- Solomon, Gregory;
- Gersch, William;
- Yoon, Young-Ho;
- Collura, Randall;
- Ruvolo, Maryellen;
- Barrett, J. Carl;
- Woods, C. Geoffrey;
- Walsh, Christopher A;
- Jurka, Jerzy;
- Larionov, Vladimir
Publication type:
Article
Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach.
Published in:
Journal of Child Neurology, 2005, v. 20, n. 4, p. 300, doi. 10.1177/08830738050200040501
By:
- Mochida, Ganeshwaran H.
Publication type:
Article
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Published in:
Human Mutation, 2017, v. 38, n. 10, p. 1348, doi. 10.1002/humu.23250
By:
- Nakayama, Tojo;
- Wu, Jiang;
- Galvin‐Parton, Patricia;
- Weiss, Jody;
- Andriola, Mary R.;
- Hill, R. Sean;
- Vaughan, Dylan J.;
- El‐Quessny, Malak;
- Barry, Brenda J.;
- Partlow, Jennifer N.;
- Barkovich, A. James;
- Ling, Jiqiang;
- Mochida, Ganeshwaran H.
Publication type:
Article
Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM 3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts.
Published in:
Human Mutation, 2013, v. 34, n. 3, p. 498, doi. 10.1002/humu.22263
By:
- Akawi, Nadia A.;
- Canpolat, Fuat E.;
- White, Susan M.;
- Quilis‐Esquerra, Josep;
- Morales Sanchez, Martin;
- Gamundi, Maria José;
- Mochida, Ganeshwaran H.;
- Walsh, Christopher A.;
- Ali, Bassam R.;
- Al‐Gazali, Lihadh
Publication type:
Article
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 15, p. 2155, doi. 10.1093/hmg/ddi220
By:
- Kouprina, Natalay;
- Pavlicek, Adam;
- Collins, N. Keith;
- Nakano, Megumi;
- Noskov, Vladimir N.;
- Ohzeki, Jun-Ichirou;
- Mochida, Ganeshwaran H.;
- Risinger, John I.;
- Goldsmith, Paul;
- Gunsior, Michelle;
- Solomon, Greg;
- Gersch, William;
- Kim, Jung-Hyun;
- Barrett, J. Carl;
- Walsh, Christopher A.;
- Jurka, Jerzy;
- Masumoto, Hiroshi;
- Larionov, Vladimir
Publication type:
Article

Found: 14