Susan White

Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder

Guy Helman, Lauren E Taylor, Marzena Walkiewicz, Maelle Le Moing, Stefanie Eggers, Joy Yaplito-Lee, Maria Fuller, Gabriel Dabscheck, Victoria Rodriguez-Casero, Susan M White, Cas Simons

Journal article  |  2021  |  EUROPEAN JOURNAL OF MEDICAL GENETICS

RNA sequencing (RNAseq) is emerging as a complementary tool to DNA sequencing, providing utility in diagnosis for disorders such a..

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

Susan M White, Elizabeth Bhoj, Christoffer Nellaker, Augusta MA Lachmeijer, Aren E Marshall, Kym M Boycott, Dong Li, Wendy Smith, Taila Hartley, Arran McBride, Michelle E Ernst, Alison S May, Dagmar Wieczorek, Rami Abou Jamra, Margarete Koch-Hogrebe, Katrin Ounap, Sander Pajusalu, KL van Gassen, Simon Sadedin, Sara Ellingwood, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA re..

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

Katja Apelt, Susan M White, Hyun Suk Kim, Jung-Eun Yeo, Angela Kragten, Annelotte P Wondergem, Martin A Rooimans, Roman Gonzalez-Prieto, Wouter W Wiegant, Sebastian Lunke, Daniel Flanagan, Sarah Pantaleo, Catherine Quinlan, Winita Hardikar, Haico van Attikum, Alfred CO Vertegaal, Brian T Wilson, Rob MF Wolthuis, Orlando D Scharer, Martijn S Luijsterburg

Journal article  |  2021  |  JOURNAL OF EXPERIMENTAL MEDICINE

ERCC1-XPF is a multifunctional endonuclease involved in nucleotide excision repair (NER), interstrand cross-link (ICL) repair, and..

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Meena Balasubramanian, Alexander JM Dingemans, Shadi Albaba, Ruth Richardson, Thabo M Yates, Helen Cox, Sofia Douzgou, Ruth Armstrong, Francis H Sansbury, Katherine B Burke, Andrew E Fry, Nicola Ragge, Saba Sharif, Alison Foster, Annachiara De Sandre-Giovannoli, Sahar Elouej, Pradeep Vasudevan, Sahar Mansour, Kate Wilson, Helen Stewart, et al.

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function va..

Missense variant contribution to USP9X-female syndrome

Lachlan A Jolly, Euan Parnell, Alison E Gardner, Mark A Corbett, Luis A Perez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, et al.

Journal article  |  2020  |  NPJ GENOMIC MEDICINE

USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disor..

A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

A Yeung, NB Tan, TY Tan, Z Stark, N Brown, MJ Hunter, M Delatycki, C Stutterd, R Savarirayan, G McGillivray, R Stapleton, S Kumble, L Downie, M Regan, S Lunke, B Chong, D Phelan, G Brett, A Jarmolowicz, Y Prawer, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

PanelApp: accelerating international consensus on virtual gene panels through collaboration on a federated open platform

Z Stark, RE Foulger, E Williams, B Thompson, C Patel, IUS Leong, LC Daugherty, S Leigh, C Snow, C Boustred, O Niblock, A Rueda-Martin, O Gerasimenko, E Ivanov, K Savage, W Bellamy, V San Kho Lin, R Valls, L Gordon, H Brittain, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Functional genomics and extended analyses of unsolved exome-negative cases through the Undiagnosed Diseases Project in Victoria (UDP-Vic)

TY Tan, T Cloney, NB Tan, L Gallacher, J Elliott, G Helman, C Simons, S Sadedin, L Pais, A O'Donnell-Luria, J Christodoulou, SM White

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Biallelic loss-of-function variations in SMO, encoding the key transducer of the Sonic Hedgehog pathway, cause a broad phenotypic spectrum of hedgehogopathies

TL Le, Y Sribudiani, X Dong, C Huber, C Kois, G Baujat, CT Gordon, V Mayne, L Galmiche, V Serre, N Goudin, M Zarhrate, C Bole-Feysot, C Masson, P Nitschke, FW Verheijen, L Pais, A Pelet, S Sadedin, JA Pugh, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Biallelic loss-of-function NRROS variants impairing active TGF-ss 1 delivery cause a severe infantile onset neurodegenerative condition with intracranial calcification

X Dong, NB Tan, KB Howell, S Barresi, L Freeman, D Vecchio, M Piccione, F Clementina Radio, D Calame, S Zong, S Eggers, IE Scheffer, TY Tan, NJ Van Bergen, M Tartaglia, J Christodoulou, SM White

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS