Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures
Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Journal Article
A Cyclic Nucleotide-Gated Channel (CNGC16) in Pollen Is Critical for Stress Tolerance in Pollen Reproductive Development
Tunc-Ozdemir, Meral, Tang, Chong, Ishka, Maryam Rahmati, Brown, Elizabeth, Groves, Norman R., Myers, Candace T., Rato, Claudia, Poulsen, Lisbeth R., McDowell, Stephen, Miller, Gad, Mittler, Ron, Harper, Jeffrey F.
Published in Plant physiology (Bethesda) (01.02.2013)
Published in Plant physiology (Bethesda) (01.02.2013)
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Journal Article
Regulation of endothelial cell development by ETS transcription factors
Meadows, Stryder M., Myers, Candace T., Krieg, Paul A.
Published in Seminars in cell & developmental biology (01.12.2011)
Published in Seminars in cell & developmental biology (01.12.2011)
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Journal Article
Cyclic nucleotide gated channels 7 and 8 are essential for male reproductive fertility
Tunc-Ozdemir, Meral, Rato, Claudia, Brown, Elizabeth, Rogers, Stephanie, Mooneyham, Amanda, Frietsch, Sabine, Myers, Candace T, Poulsen, Lisbeth Rosager, Malhó, Rui, Harper, Jeffrey F
Published in PloS one (12.02.2013)
Published in PloS one (12.02.2013)
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Journal Article
Somatic activating BRAF variants cause isolated lymphatic malformations
Zenner, Kaitlyn, Jensen, Dana M., Dmyterko, Victoria, Shivaram, Giridhar M., Myers, Candace T., Paschal, Cate R., Rudzinski, Erin R., Pham, Minh-Hang M., Cheng, V. Chi, Manning, Scott C., Bly, Randall A., Ganti, Sheila, Perkins, Jonathan A., Bennett, James T.
Published in HGG advances (14.04.2022)
Published in HGG advances (14.04.2022)
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Journal Article
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn
Published in JIMD reports (01.07.2020)
Published in JIMD reports (01.07.2020)
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Journal Article
The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis
Poskanzer, Sheri A., Thies, Jenny, Collins, Christopher J., Myers, Candace T., Dayuha, Remwilyn, Duong, Phi, Yi, Fan, Chang, Irene J., Ochs, Hans D., Torgerson, Troy R., Hahn, Si Houn
Published in Molecular genetics & genomic medicine (01.04.2020)
Published in Molecular genetics & genomic medicine (01.04.2020)
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Journal Article
Parental Mosaicism in “De Novo” Epileptic Encephalopathies
Myers, Candace T, Hollingsworth, Georgina, Muir, Alison M, Schneider, Amy L, Thuesmunn, Zoe, Knupp, Allison, King, Chontelle, Lacroix, Amy, Mehaffey, Michele G, Berkovic, Samuel F, Carvill, Gemma L, Sadleir, Lynette G, Scheffer, Ingrid E, Mefford, Heather C
Published in The New England journal of medicine (26.04.2018)
Published in The New England journal of medicine (26.04.2018)
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Journal Article
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Myers, Candace T., McMahon, Jacinta M., Schneider, Amy L., Petrovski, Slavé, Allen, Andrew S., Carvill, Gemma L., Zemel, Matthew, Saykally, Julia E., LaCroix, Amy J., Heinzen, Erin L., Hollingsworth, Georgina, Nikanorova, Marina, Corbett, Mark, Gecz, Jozef, Coman, David, Freeman, Jeremy, Calvert, Sophie, Gill, Deepak, Carney, Patrick, Lerman-Sagie, Tally, Sampaio, Hugo, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Johnson, Michael R., Kuzniecky, Ruben, Marson, Anthony G., O’Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Poduri, Annapurna, Pickrell, William O., Chung, Seo-Kyung, Rees, Mark I., Sherr, Elliott, Sadleir, Lynette G., Goldstein, David B., Lowenstein, Daniel H., Møller, Rikke S., Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
Di Donato, Nataliya, Timms, Andrew E, Aldinger, Kimberly A, Mirzaa, Ghayda M, Bennett, James T, Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T, Rivière, Jean-Baptiste, Zaki, Maha S, Gleeson, Joseph G, Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M Elizabeth, Ledbetter, David H, Guerrini, Renzo, Dobyns, William B
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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Journal Article
Severe speech impairment is a distinguishing feature of FOXP1‐related disorder
Braden, Ruth O, Amor, David J, Fisher, Simon E, Mei, Cristina, Myers, Candace T, Mefford, Heather, Gill, Deepak, Srivastava, Siddharth, Swanson, Lindsay C, Goel, Himanshu, Scheffer, Ingrid E, Morgan, Angela T
Published in Developmental medicine and child neurology (01.12.2021)
Published in Developmental medicine and child neurology (01.12.2021)
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Journal Article
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
Howell, Katherine B., Eggers, Stefanie, Dalziel, Kim, Riseley, Jessica, Mandelstam, Simone, Myers, Candace T., McMahon, Jacinta M., Schneider, Amy, Carvill, Gemma L., Mefford, Heather C., Scheffer, Ingrid E., Harvey, A. Simon
Published in Epilepsia (Copenhagen) (01.06.2018)
Published in Epilepsia (Copenhagen) (01.06.2018)
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Journal Article
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Corbett, Mark A, Bellows, Susannah T, Li, Melody, Carroll, Renée, Micallef, Silvana, Carvill, Gemma L, Myers, Candace T, Howell, Katherine B, Maljevic, Snezana, Lerche, Holger, Gazina, Elena V, Mefford, Heather C, Bahlo, Melanie, Berkovic, Samuel F, Petrou, Steven, Scheffer, Ingrid E, Gecz, Jozef
Published in Neurology (08.11.2016)
Published in Neurology (08.11.2016)
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Journal Article
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
LaCroix, Amy J., Stabley, Deborah, Sahraoui, Rebecca, Adam, Margaret P., Mehaffey, Michele, Kernan, Kelly, Myers, Candace T., Fagerstrom, Carrie, Anadiotis, George, Akkari, Yassmine M., Robbins, Katherine M., Gripp, Karen W., Baratela, Wagner A.R., Bober, Michael B., Duker, Angela L., Doherty, Dan, Dempsey, Jennifer C., Miller, Daniel G., Kircher, Martin, Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Sol-Church, Katia
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
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Journal Article
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
Møller, Rikke S, Wuttke, Thomas V, Helbig, Ingo, Marini, Carla, Johannesen, Katrine M, Brilstra, Eva H, Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L, Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T, Larsen, Line H G, Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L, Dahl, Hans A, Tommerup, Niels, Mefford, Heather C, Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R, Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana
Published in Neurology (31.01.2017)
Published in Neurology (31.01.2017)
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Journal Article
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
Scheffer, Ingrid E, Boysen, Katja E, Schneider, Amy L, Myers, Candace T, Mehaffey, Michele G, Rochtus, Anne M, Yuen, Yuet‐Ping, Ronen, Gabriel M, Chak, Wai Km, Gill, Deepak, Poduri, Annapurna, Mefford, Heather C
Published in Developmental medicine and child neurology (01.09.2020)
Published in Developmental medicine and child neurology (01.09.2020)
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Journal Article
Genetic heterogeneity in infantile spasms
Muir, Alison M., Myers, Candace T., Nguyen, Nancy T., Saykally, Julia, Craiu, Dana, De Jonghe, Peter, Helbig, Ingo, Hoffman-Zacharska, Dorota, Guerrini, Renzo, Lehesjoki, Anna-Elina, Marini, Carla, Møller, Rikke S., Serratosa, Jose, Štěrbová, Katalin, Striano, Pasquale, von Spiczak, Sarah, Weckhuysen, Sarah, Mefford, Heather C.
Published in Epilepsy research (01.10.2019)
Published in Epilepsy research (01.10.2019)
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Journal Article