Search Results - Mathew Wallis

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  1. 1
    Loss of TOP3B leads to increased R-loop formation and genome instability

    Loss of TOP3B leads to increased R-loop formation and genome instability by Tao Zhang, Mathew Wallis, Vida Petrovic, Jackie Challis, Paul Kalitsis, Damien F. Hudson

    Published 2019
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  2. 2
    CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

    CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling by Petro Starokadomskyy, Nathan Gluck, Haiying Li, Baozhi Chen, Mathew Wallis, Gabriel N. Maine, Xicheng Mao, Iram Waris Zaidi, Marco Y. Hein, Fiona J. McDonald, Steffen Lenzner, Agnes Zecha, Hans‐Hilger Ropers, Andreas W. Kuß, Julie McGaughran, Jozef Gécz, Ezra Burstein

    Published 2013
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  3. 3
    COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A

    COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A by Christine Phillips-Krawczak, Amika Singla, Petro Starokadomskyy, Zhi-Hui Deng, Douglas G. Osborne, Haiying Li, Christopher J. Dick, Timothy S. Gomez, Megan M Koenecke, Jin‐San Zhang, Haiming Dai, Luis Sifuentes-Dominguez, Linda N. Geng, Scott H. Kaufmann, Marco Y. Hein, Mathew Wallis, Julie McGaughran, Jozef Gécz, Bart van de Sluis, Daniel D. Billadeau, Ezra Burstein

    Published 2014
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  4. 4
    Clinical impact of genomic testing in patients with suspected monogenic kidney disease

    Clinical impact of genomic testing in patients with suspected monogenic kidney disease by Kushani Jayasinghe, Zornitza Stark, Peter G. Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew F. Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathy Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily See, Andrew Talbot, Alison H. Trainer, Rigan Tytherleigh, Giulia Valente, Mathew Wallis, Louise Wardrop, Kirsty West, Susan M. White, Ella Wilkins, Andrew Mallett, Catherine Quinlan

    Published 2020
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  5. 5
    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 by Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart

    Published 2022
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  6. 6
    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 by Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart

    Published 2023
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  7. 7
    Genomic Testing in Patients with Kidney Failure of an Unknown Cause

    Genomic Testing in Patients with Kidney Failure of an Unknown Cause by Amali Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O’Shea, Erik Biroš, Trudie Harris, Stephen I. Alexander, Simon Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steven J. Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew Jose, A Leaver, Mandi MacShane, Evanthia O. Madelli, Kathy Nicholls, Rhonda Pawlowski, Gopala K. Rangan, Paul Snelling, Jacqueline Soraru, M Sundaram, Michel Tchan, Giulia Valente, Mathew Wallis, Laura Wedd, M. J. Welland, John Whitlam, Ella Wilkins, Hugh J. McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew Mallett

    Published 2024
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  8. 8
    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome by Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci‐Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez

    Published 2020
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  9. 9
    The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

    The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation by Alison D. Archibald, Belinda McClaren, Jade Caruana, Erin Tutty, Emily King, Jane Halliday, Stephanie Best, Anaita Kanga‐Parabia, Bruce Bennetts, Corrina Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow‐Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin Downes, Mathew Wallis, Monica Ferrie, Nicholas Pachter, Paul Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan Walker, Tiffany Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki

    Published 2022
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  10. 10
    Integrated multi-omics for rapid rare disease diagnosis on a national scale

    Integrated multi-omics for rapid rare disease diagnosis on a national scale by Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, Sarah A. Sandaradura, Meredith Wilson, Jason Pinner, Matthew F. Hunter, Christopher Barnett, Mathew Wallis, Benjamin Kamien, Tiong Yang Tan, Mary‐Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S. Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R. Jackson, Hamish S. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, M. De Silva, Amanda Springer, Michelle C. Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David A. Stroud, Alison G. Compton, David R. Thorburn, Katrina M. Bell, Simon Sadedin, Kathryn N. North, John Christodoulou, Zornitza Stark

    Published 2023
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  11. 11
    Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

    Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size by Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A. Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anagnostou, Meron Azage, Renee Bend, Amber Begtrup, Natasha J. Brown, Benjamin Büttner, Megan T. Cho, Gregory M. Cooper, Jan H Doering, Christèle Dubourg, David B. Everman, Michael S. Hildebrand, Francis Jeshira Reynoso Santos, Barbara Kellam, Jennifer Keller‐Ramey, Johannes R. Lemke, Shuxi Liu, Dmitriy Niyazov, Katelyn Payne, Richard Person, Chloé Quēlin, Rhonda E. Schnur, Brooke Smith, Jonathan B. Strober, Susan Walker, Mathew Wallis, Laurence E. Walsh, Sandra Yang, Ryan K. C. Yuen, Andreas Ziegler, Heinrich Sticht, Michael C. Pride, Lori Orosco, Verónica Martínez‐Cerdeño, Jill L. Silverman, Jacqueline N. Crawley, Stephen W. Scherer, Konstantinos S. Zarbalis, Rami Abou Jamra

    Published 2019
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  12. 12
    Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

    Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years by Kushani Jayasinghe, Erik Biroš, Trudie Harris, Alasdair Wood, Rosie O’Shea, Lauren M. Hill, Lindsay Fowles, Louise Wardrop, Carolyn Shalhoub, Deirdré Hahn, Gopala K. Rangan, Lucy Kevin, Michel Tchan, Paul Snelling, Rhiannon Sandow, Madhivan Sundaram, Swasti Chaturvedi, Peter Trnka, Randall Faull, Nicola Poplawski, Vanessa Huntley, Denisse Garza, Mathew Wallis, Matthew Jose, A Leaver, Alison H. Trainer, Ella Wilkins, Sue White, Yoni Elbaum, Yael Prawer, Emma Krzesinski, Giulia Valente, Ingrid Winship, Jessica Ryan, John Whitlam, Kathy Nicholls, Kirsty West, Liz Donaldson, Lilian Johnstone, Miranda F. Lewit‐Mendes, Peter G. Kerr, Simon Bodek, Aron Chakera, Mandi MacShane, Christine Mincham, Elaine Stackpoole, Francis R Willis, Jacqueline Soraru, Nick Pachter, Bruce Bennetts, Thomas Forbes, Amali Mallawaarachchi, Catherine Quinlan, Chirag Patel, Hugh J. McCarthy, Illias Goranitis, Stephanie Best, Stephen I. Alexander, Zornitza Stark, Andrew Mallett

    Published 2024
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  13. 13
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome by Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    Published 2022
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  14. 14
    Heritable DNA methylation marks associated with susceptibility to breast cancer

    Heritable DNA methylation marks associated with susceptibility to breast cancer by Jihoon E. Joo, James G. Dowty, Roger L. Milne, Ee Ming Wong, Pierre‐Antoine Dugué, Dallas R. English, John L. Hopper, David E. Goldgar, Graham G. Giles, Melissa C. Southey, Adrienne Sexton, Alice Christian, Alison H. Trainer, Allan D. Spigelman, Andrew Fellows, Andrew N. Shelling, Anna de Fazio, Anneke C. Blackburn, Ashley Crook, Bettina Meiser, Briony Patterson, Christine L. Clarke, Christobel Saunders, Clare Hunt, Clare L. Scott, David J. Amor, Deborah J. Marsh, Edward Edkins, Elizabeth Salisbury, Eric Haan, Eveline Neidermayr, Finlay Macrae, Gelareh Farshid, Geoffrey J. Lindeman, Georgia Chenevix‐Trench, Graham J. Mann, Grantley Gill, Heather Thorne, Ian Campbell, Ian B. Hickie, Ingrid Winship, Jack Goldblatt, James M. Flanagan, James Kollias, Jane E. Visvader, Jennifer Stone, Jessica Taylor, Jo Burke, Jodi M. Saunus, John Forbes, Jonathan Beesley, Judy Kirk, Juliet D. French, Kathy Tucker, Kathy H. C. Wu, Kelly‐Anne Phillips, Lara Lipton, Leslie Andrews, Elizabeth Lobb, Logan C. Walker, Maira Kentwell, Amanda B. Spurdle, Margaret C. Cummings, Margaret Gleeson, Marion Harris, Mark A. Jenkins, Mary Anne Young, Martin B. Delatycki, Mathew Wallis, Matthew Burgess, Melanie A. Price, Melissa A. Brown, Michael Bogwitz, Michael Field, Michael Friedlander, Michael Gattas, Mona Saleh, Nicholas K. Hayward, Nick Pachter, Paul A. Cohen, Pascal H. G. Duijf, Paul A. James, Peter T. Simpson, Peter C.C. Fong, Phyllis Butow, Rachael Williams, Richard Kefford, Rodney J. Scott, Rosemary L. Balleine, Sarah‐Jane Dawson, Sheau Wen Lok, Shona O’Connell, Sian Greening, Sophie Nightingale, Stacey L. Edwards, Stephen B. Fox, Sue‐Anne McLachlan, Sunil R. Lakhani, Susan N. Thomas, Yoland Antill

    Published 2018
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