Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Smith, Thomas B, Rea, Alessandro, Thomas, Huw B, Thompson, Kyle, Oláhová, Monika, Maroofian, Reza, Zamani, Mina, He, Langping, Sadeghian, Saeid, Galehdari, Hamid, Lotan, Nava Shaul, Gilboa, Tal, Herman, Kristin C, McCorvie, Thomas J, Yue, Wyatt W, Houlden, Henry, Taylor, Robert W, Newman, William G, O'Keefe, Raymond T
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
Get full text
Journal Article
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1
Castle, Alison M R, Salian, Smrithi, Bassan, Haim, Sofrin-Drucker, Efrat, Cusmai, Raffaella, Herman, Kristin C, Heron, Delphine, Keren, Boris, Johnstone, Devon L, Mears, Wendy, Morlot, Susanne, Nguyen, Thi Tuyet Mai, Rock, Rachel, Stolerman, Elliot, Russo, Julia, Burns, William Boyce, Jones, Julie R, Serpieri, Valentina, Wallaschek, Hannah, Zanni, Ginevra, Dyment, David A, Campeau, Philippe M
Published in Neurology. Genetics (01.12.2021)
Published in Neurology. Genetics (01.12.2021)
Get full text
Journal Article
Spontaneous X chromosome MI and MII nondisjunction events in Drosophila melanogaster oocytes have different recombinational histories
Koehler, K.E, Boulton, C.L, Collins, H.E, French, R.L, Herman, K.C, Lacefield, S.M, Madden, L.D, Schuetz, C.D, Hawley, R.S
Published in Nature genetics (01.12.1996)
Published in Nature genetics (01.12.1996)
Get full text
Journal Article
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
Get full text
Journal Article