Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation
Huang, Wei-Lin, Steenari, Maija R., Barrick, Rebekah, Simon, Mariella T., Chang, Richard, Eftekharian, Shaya S., Stover, Alexander, Schwartz, Philip H., Latini, Alexandra, Abdenur, Jose E.
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM
Beltran, Carlos Mares, Abdenur, Jose, Chang, Richard, Barrick, Rebekah, Spongberg, Rebecca, Tise, Christina G., Niehaus, Annie D., Enns, Gregory
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Pochiero, Francesca, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Lopez, Javier F., Maleady-Crowe, Fiona, Minneci, Federico, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Rahim, Tahrima, Rendon, Augusto, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Ratto, Gian Michele, Guerrini, Renzo
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
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Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes
Flex, Elisabetta, Albadri, Shahad, Radio, Francesca Clementina, Cecchetti, Serena, Lauri, Antonella, Priolo, Manuela, Kissopoulos, Marta, Carpentieri, Giovanna, Fasano, Giulia, Venditti, Martina, Magliocca, Valentina, Bellacchio, Emanuele, Welch, Carrie L, Colombo, Paolo C, Kochav, Stephanie M, Chang, Richard, Barrick, Rebekah, Trivisano, Marina, Micalizzi, Alessia, Borghi, Rossella, Messina, Elena, Mancini, Cecilia, Pizzi, Simone, De Santis, Flavia, Rosello, Marion, Specchio, Nicola, Compagnucci, Claudia, McWalter, Kirsty, Chung, Wendy K, Del Bene, Filippo, Tartaglia, Marco
Published in Human molecular genetics (13.01.2023)
Published in Human molecular genetics (13.01.2023)
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Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Melland, Holly, Bumbak, Fabian, Kolesnik-Taylor, Anna, Ng-Cordell, Elise, John, Abinayah, Constantinou, Panayiotis, Joss, Shelagh, Larsen, Martin, Fagerberg, Christina, Laulund, Lone Walentin, Thies, Jenny, Emslie, Frances, Willemsen, Marjolein, Kleefstra, Tjitske, Pfundt, Rolf, Barrick, Rebekah, Chang, Richard, Loong, Lucy, Alfadhel, Majid, van der Smagt, Jasper, Nizon, Mathilde, Kurian, Manju A., Scott, Daniel J., Ziarek, Joshua J., Gordon, Sarah L., Baker, Kate
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
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Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
Mares Beltran, Carlos F, Tise, Christina G, Barrick, Rebekah, Niehaus, Annie D, Sponberg, Rebecca, Chang, Richard, Enns, Gregory M, Abdenur, Jose E
Published in Genes (01.07.2024)
Published in Genes (01.07.2024)
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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Gisladottir, Svanborg, Simon, Mariella T., Arnthorsson, Asgeir O., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Ivarsdottir, Erna V., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Barrick, Rebekah, Saemundsdottir, Jona, le Roux, Louise, Oskarsson, Gudjon R., Asmundsson, Jurate, Steffensen, Thora, Gudmundsson, Kjartan R., Ludvigsson, Petur, Jonsson, Jon J., Masson, Gisli, Jonsdottir, Ingileif, Holm, Hilma, Jonasson, Jon G., Magnusson, Olafur Th, Thorarensen, Olafur, Abdenur, Jose, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Published in Nature communications (04.02.2022)
Published in Nature communications (04.02.2022)
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