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Items where Author is "Mefford, Heather C."

Items where Author is "Mefford, Heather C."

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de novo variants FBXO11 Genetics neurodevelopmental disorder neurodevelopmental syndrome UNC13A
Number of items: 6.

de novo variants

Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza ORCID logoORCID: 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)

FBXO11

Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza ORCID logoORCID: 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)

Genetics

Asadollahi, Reza ORCID logoORCID: 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)

neurodevelopmental disorder

Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza ORCID logoORCID: 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)

neurodevelopmental syndrome

Asadollahi, Reza ORCID logoORCID: 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)

UNC13A

Asadollahi, Reza ORCID logoORCID: 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)

This list was generated on Thu Nov 20 04:17:37 2025 UTC.