Works by Keller, Kory

Results: 9

Autism questionnaire scores do not only rise because of autism.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 2, p. 235, doi. 10.1111/dmcn.14725

By:

Fombonne, Eric;
Morotti, Hadley;
Mastel, Sarah;
Keller, Kory;
Barnard, Rebecca A;
Hall, Trevor;
O'Roak, Brian J

Publication type:

Article

Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.

Published in:

2021

By:

Morotti, Hadley;
Mastel, Sarah;
Keller, Kory;
Barnard, Rebecca A;
Hall, Trevor;
O'Roak, Brian J;
Fombonne, Eric

Publication type:

journal article

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 57, doi. 10.1038/ejhg.2013.67

By:

Mullegama, Sureni V;
Rosenfeld, Jill A;
Orellana, Carmen;
van Bon, Bregje W M;
Halbach, Sara;
Repnikova, Elena A;
Brick, Lauren;
Li, Chumei;
Dupuis, Lucie;
Rosello, Monica;
Aradhya, Swaroop;
Stavropoulos, D James;
Manickam, Kandamurugu;
Mitchell, Elyse;
Hodge, Jennelle C;
Talkowski, Michael E;
Gusella, James F;
Keller, Kory;
Zonana, Jonathan;
Schwartz, Stuart

Publication type:

Article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Published in:

2016

By:

Morimoto, Marie;
Myung, Clara;
Beirnes, Kimberly;
Choi, Kunho;
Asakura, Yumi;
Bokenkamp, Arend;
Bonneau, Dominique;
Brugnara, Milena;
Charrow, Joel;
Colin, Estelle;
Davis, Amira;
Deschenes, Georges;
Gentile, Mattia;
Giordano, Mario;
Gormley, Andrew K;
Govender, Rajeshree;
Joseph, Mark;
Keller, Kory;
Lerut, Evelyne;
Levtchenko, Elena

Publication type:

journal article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immunoosseous dysplasia?

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0519-7

By:

Morimoto, Marie;
Myung, Clara;
Beirnes, Kimberly;
Kunho Choi;
Yumi Asakura;
Bokenkamp, Arend;
Bonneau, Dominique;
Brugnara, Milena;
Charrow, Joel;
Colin, Estelle;
Davis, Amira;
Deschenes, Georges;
Gentile, Mattia;
Giordano, Mario;
Gormley, Andrew K.;
Govender, Rajeshree;
Joseph, Mark;
Keller, Kory;
Lerut, Evelyne;
Levtchenko, Elena

Publication type:

Article

Genetic Counseling-Who Needs It?

Published in:

International Journal of Childbirth Education, 1997, v. 12, n. 3, p. 13

By:

Keller, Kory L.

Publication type:

Article

De novo apparent loss-of-function mutations in <italic>PRR12</italic> in three patients with intellectual disability and iris abnormalities.

Published in:

Human Genetics, 2018, v. 137, n. 3, p. 257, doi. 10.1007/s00439-018-1877-0

By:

Leduc, Magalie S.;
Mcguire, Marianne;
Madan-Khetarpal, Suneeta;
Ortiz, Damara;
Hayflick, Susan;
Keller, Kory;
Eng, Christine M.;
Yang, Yaping;
Bi, Weimin

Publication type:

Article

Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 973, doi. 10.1002/ajmg.a.38622

By:

Zhu, Wenmiao;
Li, Jianli;
Chen, Stella;
Zhang, Jinglan;
Vetrini, Francesco;
Braxton, Alicia;
Eng, Christine M.;
Yang, Yaping;
Xia, Fan;
Keller, Kory L.;
Okinaka‐Hu, Leila;
Lee, Chung;
Holder, Jr, J. Lloyd;
Bi, Weimin

Publication type:

Article

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2572, doi. 10.1093/hmg/dds083

By:

Baradaran-Heravi, Alireza;
Cho, Kyoung Sang;
Tolhuis, Bas;
Sanyal, Mrinmoy;
Morozova, Olena;
Morimoto, Marie;
Elizondo, Leah I.;
Bridgewater, Darren;
Lubieniecka, Joanna;
Beirnes, Kimberly;
Myung, Clara;
Leung, Danny;
Fam, Hok Khim;
Choi, Kunho;
Huang, Yan;
Dionis, Kira Y.;
Zonana, Jonathan;
Keller, Kory;
Stenzel, Peter;
Mayfield, Christy

Publication type:

Article