Natasha Brown

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Zimeng Ye, Sufang Lin, Xia Zhao, Mark F Bennett, Natasha J Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, et al.

Journal article  |  2022  |  HUMAN MUTATION

Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10..

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander JM Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh DN Astuti, Tahsin Stefan Barakat, E Martina Bebin, Stefanie Beck-Wodl, Gea Beunders, Natasha J Brown, Theresa Brunet, Han G Brunner, Philippe M Campeau, Goran Cuturilo, Christian Gilissen, Tobias B Haack, Irina Huning, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associa..

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz-Rogers, Wendy K Chung, Stephanie Sacharow, Ladonna L Immken, Susan Holder, Rebecca R Blackwell, Catherine Buchanan, Roman Yusupov, Francois Lecoquierre, Anne-Marie Guerrot, Lance Rodan, Bert BA de Vries, Erik Jan Kamsteeg, Fernando Santos Simarro, et al.

Journal article  |  2022  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of..

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

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

Journal article  |  2022  |  JIMD Rep

Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse popul..

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Martin Broly, Bogdan Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O'Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S Alkuraya, Alberta Leon, Rosa LE van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, et al.

Journal article  |  2022  |  AMERICAN JOURNAL OF HUMAN GENETICS

Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity..

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander JM Dingemans, Dick Schijven, E Martina Bebin, Stefanie Beck-Woedl, Gea Beunders, Natasha Brown, Melanie Brugger, Theresa Brunet, Philippe M Campeau, Goran Cuturilo, Tobias B Haack, Irina Huening, Ralf A Husain, Benjamin Kamien, Christina M Lill, Janine Magg, Ales Maver, et al.

Conference Proceedings  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the phenotype of QRICH1 associated neurodevelopmental disorder

Smitha Kumble, Amanda M Levy, Sixto Garcia-Minaur, Hua Gao, Maria Palomares-Bralo, Marta Pacio-Miguez, Sumit Parikh, Alyssa L Ritter, Kosuke Izumi, Trevor L Hoffman, Henry Oppermann, Lise Bjerglund, Jill A Rosenfeld, Cynthia Curry, Laurence Faivre, Anja Leiber, Scott Robinson, Richard S Finkel, Amanda Gerard, Julie S Cohen, et al.

Conference Proceedings  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Disorders in sterol metabolism: A case series

Joy Lee, Sharmila Kiss, David J Amor, Natasha J Brown, Winita Hardikar, Kai M Hong, Duncan MacGregor, Melanie Marty, Justine Marum, Gautham Pai, Jane Wallace, James Pitt

Journal article  |  2022  |  Pathology

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

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

Nicole J Van Bergen, Daniella H Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M Ryan, Colleen D'Arcy, Margot Nash, Sile Smith, Nikeisha J Caruana, David R Thorburn, et al.

Journal article  |  2022  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2; previously called YueF) is a mitochondrial inner membrane/matrix-r..