Items where Author is "Mefford, Heather C."
Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Ahmad, Aisha, Boonsawat, Paranchai, Hinzen, Jasmine Shahanoor, Lohse, Mareike, Bouazza-Arostegui, Boris, Sun, Siqi, Utesch, Tillmann, Sommer, Jonas D, Ilic, Dragana, Padmanarayana, Murugesh, Fischermanns, Kati, Ranjan, Mrinalini, Boll, Moritz, Ka, Chandran, Piton, Amélie, Mattioli, Francesca, Isidor, Bertrand, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H., Marshall, Christian R., Mercimek-Andrews, Saadet, Matsumoto, Naomichi, Miyake, Noriko, de Oliveira Stephan, Bruno, Honjo, Rachel Sayuri, Bertola, Debora R., Kim, Chong Ae, Yusupov, Roman, Mefford, Heather C., Christodoulou, John, Lee, Joy, Heath, Oliver, Brown, Natasha J. and et., al.
(2025)
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Nature Genetics.
ISSN 1061-4036 (Print), 1546-1718 (Online)
(doi:10.1038/s41588-025-02361-5)
Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich and Zweier, Christiane
(2018)
De Novo Variants in the F-Box Protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder.
American Journal of Human Genetics, 103 (2).
pp. 305-316.
ISSN 0002-9297 (Print), 1537-6605 (Online)
(doi:10.1016/j.ajhg.2018.07.003)
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