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Mutation in Filamin A Causes Periventricular Heterotopia, Developmental Regression, and West Syndrome in Males.
Published in:
Epilepsia (Series 4), 2006, v. 47, n. 1, p. 211, doi. 10.1111/j.1528-1167.2006.00390.x
By:
- Masruha, Marcelo R.;
- Caboclo, Luis O. S. F.;
- Carrete, Henrique;
- Cendes, Íscia L.;
- Rodrigues, Murilo G.;
- Garzon, Eliana;
- Yacubian, Elza M. T.;
- Sakamoto, Américo C.;
- Sheen, Volney;
- Harney, Megan;
- Neal, Jason;
- Sean Hill, R.;
- Bodell, Adria;
- Walsh, Christopher;
- Vilanova, Luiz C. P.
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
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 PNKP cause microcephaly, seizures and defects in DNA repair.
Published in:
Nature Genetics, 2010, v. 42, n. 3, p. 245, doi. 10.1038/ng.526
By:
- Jun Shen;
- Gilmore, Edward C.;
- Marshall, Christine A.;
- Haddadin, Mary;
- Reynolds, John J.;
- Eyaid, Wafaa;
- Bodell, Adria;
- Barry, Brenda;
- Gleason, Danielle;
- Allen, Kathryn;
- Ganesh, Vijay S.;
- Chang, Bernard S.;
- Grix, Arthur;
- Hill, R. Sean;
- Topcu, Meral;
- Caldecott, Keith W.;
- Barkovich, A. James;
- Walsh, Christopher A.
Publication type:
Article
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Published in:
Nature Genetics, 2007, v. 39, n. 8, p. 957, doi. 10.1038/ng2063
By:
- Kantarci, Sibel;
- Al-Gazali, Lihadh;
- Hill, R. Sean;
- Donnai, Dian;
- Black, Graeme C. M.;
- Bieth, Eric;
- Chassaing, Nicolas;
- Lacombe, Didier;
- Devriendt, Koen;
- Teebi, Ahmad;
- Loscertales, Maria;
- Robson, Caroline;
- Tianming Liu;
- MacLaughlin, David T.;
- Noonan, Kristin M.;
- Russell, Meaghan K.;
- Walsh, Christopher A.;
- Donahoe, Patricia K.;
- Pober, Barbara R.
Publication type:
Article
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Published in:
Nature Genetics, 2004, v. 36, n. 9, p. 1008, doi. 10.1038/ng1419
By:
- Ferland, Russell J.;
- Eyaid, Wafaa;
- Collura, Randall V.;
- Tully, Laura D.;
- Hill, R. Sean;
- Al-Nouri, Doha;
- Al-Rumayyan, Ahmed;
- Topcu, Meral;
- Gascon, Generoso;
- Bodell, Adria;
- Shugart, Yin Yao;
- Ruvolo, Maryellen;
- Walsh, Christopher A.
Publication type:
Article
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
Published in:
2004
By:
- Topcu, Meral;
- Sebire, Guillaume;
- Bodell, Adria;
- Shugart, Yin Yao;
- Imitola, Jaime;
- Guerrini, Renzo;
- Hill, R. Sean;
- Grant, P. Ellen;
- Walsh, Christopher A.;
- Khoury, Samia J.;
- Sheen, Volney L.;
- Ganesh, Vijay S.
Publication type:
Letter
A survey of American paired teachers in dual language Chinese immersion programs.
Published in:
Foreign Language Annals, 2023, v. 56, n. 2, p. 299, doi. 10.1111/flan.12682
By:
- Hill, Sean R.
Publication type:
Article
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
Impaired proliferation and migration in human Miller‐Dieker neural precursors.
Published in:
Annals of Neurology, 2006, v. 60, n. 1, p. 137
By:
- Volney L. Sheen;
- Russell J. Ferland;
- Megan Harney;
- R. Sean Hill;
- Jason Neal;
- Alison H. Banham;
- Philip Brown;
- Anjen Chenn;
- Joseph Corbo;
- Jonathan Hecht;
- Rebecca Folkerth;
- Christopher A. Walsh
Publication type:
Article
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-70656-0
By:
- Schmitz-Abe, Klaus;
- Sanchez-Schmitz, Guzman;
- Doan, Ryan N.;
- Hill, R. Sean;
- Chahrour, Maria H.;
- Mehta, Bhaven K.;
- Servattalab, Sarah;
- Ataman, Bulent;
- Lam, Anh-Thu N.;
- Morrow, Eric M.;
- Greenberg, Michael E.;
- Yu, Timothy W.;
- Walsh, Christopher A.;
- Markianos, Kyriacos
Publication type:
Article
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 13, p. 3456, doi. 10.1093/hmg/ddu054
By:
- Reiff, Rachel E.;
- Ali, Bassam R.;
- Baron, Byron;
- Yu, Timothy W.;
- Ben-Salem, Salma;
- Coulter, Michael E.;
- Schubert, Christian R.;
- Hill, R. Sean;
- Akawi, Nadia A.;
- Al-Younes, Banan;
- Kaya, Namik;
- Evrony, Gilad D.;
- Al-Saffar, Muna;
- Felie, Jillian M.;
- Partlow, Jennifer N.;
- Sunu, Christine M.;
- Schembri-Wismayer, Pierre;
- Alkuraya, Fowzan S.;
- Meyer, Brian F.;
- Walsh, Christopher A.
Publication type:
Article
Synaptic, transcriptional and chromatin genes disrupted in autism.
Published in:
Nature, 2014, v. 515, n. 7526, p. 209, doi. 10.1038/nature13772
By:
- De Rubeis, Silvia;
- Poultney, Christopher S.;
- Kou, Yan;
- Fu, Shih-Chen;
- Brownfeld, Jessica M.;
- Cai, Jinlu;
- Aleksic, Branko;
- Ozaki, Norio;
- Biscaldi, Monica;
- Bolton, Patrick F.;
- Curran, Sarah R.;
- Campbell, Nicholas G.;
- Crawford, Emily L.;
- Sutcliffe, James S.;
- Carracedo, Angel;
- Chahrour, Maria H.;
- Sean Hill, R.;
- Yu, Timothy W.;
- Walsh, Christopher A.;
- Chiocchetti, Andreas G.
Publication type:
Article
Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism.
Published in:
PLoS Genetics, 2012, v. 8, n. 4, p. 1, doi. 10.1371/journal.pgen.1002635
By:
- Chahrour, Maria H.;
- Yu, Timothy W.;
- Lim, Elaine T.;
- Ataman, Bulent;
- Coulter, Michael E.;
- Hill, R. Sean;
- Stevens, Christine R.;
- Schubert, Christian R.;
- Greenberg, Michael E.;
- Gabriel, Stacey B.;
- Walsh, Christopher A.
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
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Published in:
Human Mutation, 2008, v. 29, n. 11, p. E231, doi. 10.1002/humu.20844
By:
- Chiara Manzini, M.;
- Gleason, Danielle;
- Chang, Bernard S.;
- Sean Hill, R.;
- Barry, Brenda J.;
- Partlow, Jennifer N.;
- Poduri, Annapurna;
- Currier, Sophie;
- Galvin-Parton, Patricia;
- Shapiro, Lawrence R.;
- Schmidt, Karen;
- Davis, Jessica G.;
- Basel-Vanagaite, Lina;
- Seidahmed, Mohamed Z.;
- Salih, Mustafa A. M.;
- Dobyns, William B.;
- Walsh, Christopher A.
Publication type:
Article

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