Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

por Kiss, Sharmila, Lee, Joy Yaplito, Pitt, James, MacGregor, Duncan, Wallace, Jane, Marty, Melanie, Brown, Natasha J.
Publicado 2020

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

por Brown, Natasha J., Ye, Zimeng, Stutterd, Chloe, Jayasinghe, Sureshni I., Schneider, Amy, Mullen, Saul, Mandelstam, Simone A., Hildebrand, Michael S.
Publicado 2021

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

por Lopez, Jamie A., Noori, Tahereh, Minson, Adrian, Li Jovanoska, Lu, Thia, Kevin, Hildebrand, Michael S., Akhlaghi, Hedieh, Darcy, Phillip K., Kershaw, Michael H., Brown, Natasha J., Grigg, Andrew, Trapani, Joseph A., Voskoboinik, Ilia
Publicado 2018

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

por Trevis, Krysta J., Brown, Natasha J., Green, Cherie C., Lockhart, Paul J., Desai, Tarishi, Vick, Tanya, Anderson, Vicki, Pua, Emmanuel P. K., Bahlo, Melanie, Delatycki, Martin B., Scheffer, Ingrid E., Wilson, Sarah J.
Publicado 2020

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

por Akesson, Lauren S., Rius, Rocio, Brown, Natasha J., Rosenbaum, Jeremy, Donoghue, Sarah, Stormon, Michael, Chai, Charmaine, Bordador, Esmeralda, Guo, Yiran, Hakonarson, Hakon, Compton, Alison G., Thorburn, David R., Amarasekera, Sumudu, Marum, Justine, Monaco, Alisha, Lee, Crystle, Chong, Belinda, Lunke, Sebastian, Stark, Zornitza, Christodoulou, John
Publicado 2022

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

por Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.
Publicado 2020

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

por Van Bergen, Nicole J., Hock, Daniella H., Spencer, Lucy, Massey, Sean, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Le Fevre, Anna, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M., D’Arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha J., Thorburn, David R., Stroud, David A., White, Susan M., Christodoulou, John, Brown, Natasha J.
Publicado 2022

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

por Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, Schuhmann, Sarah, Krumbiegel, Mandy, Brown, Natasha J, Sparber, Peter, Melikyan, Lyusya, Bessonova, Liudmila, Cherevatova, Tatiana, Sharkov, Artem, Shcherbakova, Natalia, Dabir, Tabib, Kini, Usha, Schwaibold, Eva M C, Haack, Tobias B, Bertoli, Marta, Hoffjan, Sabine, Falb, Ruth, Shinawi, Marwan, Sticht, Heinrich, Zweier, Christiane
Publicado 2021

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

por Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
Publicado 2016