Publications by authors named "Natasha J Brown"

19Publications

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

Authors:
Sharmila Kiss Joy Yaplito Lee James Pitt Duncan MacGregor Jane Wallace Melanie Marty Natasha J Brown

JIMD Rep 2020 Nov 20;56(1):34-39. Epub 2020 Aug 20.

Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville Victoria Australia.

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http://dx.doi.org/10.1002/jmd2.12161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653237PMC
November 2020

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Authors:
Hui Guo Qiumeng Zhang Rujia Dai Bin Yu Kendra Hoekzema Jieqiong Tan Senwei Tan Xiangbin Jia Wendy K Chung Rebecca Hernan Fowzan S Alkuraya Ahood Alsulaiman Mohammad A Al-Muhaizea Gaetan Lesca Linda Pons Audrey Labalme Linda Laux Emily Bryant Natasha J Brown Elena Savva Samantha Ayres Dhamidhu Eratne Hilde Peeters Frédéric Bilan Lucile Letienne-Cejudo Brigitte Gilbert-Dussardier Inge-Lore Ruiz-Arana Jenny Meylan Merlini Alexia Boizot Lucia Bartoloni Federico Santoni Danielle Karlowicz Marie McDonald Huidan Wu Zhengmao Hu Guodong Chen Jianjun Ou Charlotte Brasch-Andersen Christina R Fagerberg Inken Dreyer Anne Chun-Hui Tsai Valerie Slegesky Rose B McGee Brina Daniels Elizabeth A Sellars Lori A Carpenter Bradley Schaefer Maria J Guillen Sacoto Amber Begtrup Rhonda E Schnur Sumit Punj Ingrid M Wentzensen Lindsay Rhodes Qian Pan Raphael A Bernier Chao Chen Evan E Eichler Kun Xia

Am J Hum Genet 2020 Nov;107(5):963-976

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan 410078, China; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200000, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674997PMC
November 2020

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

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

Int J Mol Sci 2020 Oct 27;21(21). Epub 2020 Oct 27.

Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia.

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http://dx.doi.org/10.3390/ijms21217965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7663259PMC
October 2020

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

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

Mol Genet Genomic Med 2020 Nov 23;8(11):e1508. Epub 2020 Sep 23.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1002/mgg3.1508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667328PMC
November 2020

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Authors:
Sebastian Lunke Stefanie Eggers Meredith Wilson Chirag Patel Christopher P Barnett Jason Pinner Sarah A Sandaradura Michael F Buckley Emma I Krzesinski Michelle G de Silva Gemma R Brett Kirsten Boggs David Mowat Edwin P Kirk Lesley C Adès Lauren S Akesson David J Amor Samantha Ayres Anne Baxendale Sarah Borrie Alessandra Bray Natasha J Brown Cheng Yee Chan Belinda Chong Corrina Cliffe Martin B Delatycki Matthew Edwards George Elakis Michael C Fahey Andrew Fennell Lindsay Fowles Lyndon Gallacher Megan Higgins Katherine B Howell Lauren Hunt Matthew F Hunter Kristi J Jones Sarah King Smitha Kumble Sarah Lang Maelle Le Moing Alan Ma Dean Phelan Michael C J Quinn Anna Richards Christopher M Richmond Jessica Riseley Jonathan Rodgers Rani Sachdev Simon Sadedin Luregn J Schlapbach Janine Smith Amanda Springer Natalie B Tan Tiong Y Tan Suzanna L Temple Christiane Theda Anand Vasudevan Susan M White Alison Yeung Ying Zhu Melissa Martyn Stephanie Best Tony Roscioli John Christodoulou Zornitza Stark

JAMA 2020 06;323(24):2503-2511

Australian Genomics Health Alliance, Parkville, Australia.

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http://dx.doi.org/10.1001/jama.2020.7671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312414PMC
June 2020

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Authors:
Johanna C Herkert Judith M A Verhagen Raquel Yotti Alireza Haghighi Dean G Phelan Paul A James Natasha J Brown Chloe Stutterd Ivan Macciocca Kai'En Leong Marian L C Bulthuis Yolande van Bever Marjon A van Slegtenhorst Ludolf G Boven Amy E Roberts Radhika Agarwal Jonathan Seidman Neal K Lakdawala Francisco Fernández-Avilés Michael A Burke Mary Ella Pierpont Elizabeth Braunlin Ahmet Okay Ḉağlayan Daniela Q C M Barge-Schaapveld Erwin Birnie Lennie van Osch-Gevers Irene M van Langen Jan D H Jongbloed Paul J Lockhart David J Amor Christine E Seidman Ingrid M B H van de Laar

Am Heart J 2020 07 21;225:108-119. Epub 2020 Apr 21.

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ahj.2020.03.023DOI Listing
July 2020

Cognitive processes predicting advanced theory of mind in the broader autism phenotype.

Authors:
Cherie C Green Natasha J Brown Valerie M Z Yap Ingrid E Scheffer Sarah J Wilson

Autism Res 2020 Jun 30;13(6):921-934. Epub 2019 Sep 30.

Melbourne School of Psychological Sciences, The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1002/aur.2209DOI Listing
June 2020

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

Authors:
Kiymet Bozaoglu Yujing Gao Edouard Stanley Miriam Fanjul-Fernández Natasha J Brown Kate Pope Cherie C Green Katerina Vlahos Koula Sourris Melanie Bahlo Martin Delatycki Ingrid Scheffer Paul J Lockhart

Stem Cell Res 2019 08 1;39:101516. Epub 2019 Aug 1.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101516DOI Listing
August 2019

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Authors:
Lauren S Akesson Stefanie Eggers Clare J Love Belinda Chong Emma I Krzesinski Natasha J Brown Tiong Y Tan Christopher M Richmond David R Thorburn John Christodoulou Matthew F Hunter Sebastian Lunke Zornitza Stark

Eur J Hum Genet 2019 12 29;27(12):1821-1826. Epub 2019 Jul 29.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41431-019-0477-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871088PMC
December 2019

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

Authors:
Diana Le Duc Cecilia Giulivi Susan M Hiatt Eleonora Napoli Alexios 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 Quélin Rhonda E Schnur Brooke T Smith Jonathan Strober Susan Walker Mathew Wallis Laurence 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 Jamra

Brain 2019 09;142(9):2617-2630

Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1093/brain/awz198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736092PMC
September 2019

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.

Authors:
Tiong Yang Tan Sebastian Lunke Belinda Chong Dean Phelan Miriam Fanjul-Fernandez Justine E Marum Vanessa Siva Kumar Zornitza Stark Alison Yeung Natasha J Brown Chloe Stutterd Martin B Delatycki Simon Sadedin Melissa Martyn Ilias Goranitis Natalie Thorne Clara L Gaff Susan M White

Eur J Hum Genet 2019 12 18;27(12):1791-1799. Epub 2019 Jul 18.

Victorian Clinical Genetics Services, Melbourne, Australia.

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http://dx.doi.org/10.1038/s41431-019-0471-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871178PMC
December 2019

A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.

Authors:
Melissa Martyn Anaita Kanga-Parabia Elly Lynch Paul A James Ivan Macciocca Alison H Trainer Jane Halliday Louise Keogh Janney Wale Ingrid Winship Michael Bogwitz Giulia Valente Maie Walsh Lilian Downie David Amor Mathew Wallis Fiona Cunningham Matthew Burgess Natasha J Brown Anna Jarmolowicz Sebastian Lunke Ilias Goranitis Clara L Gaff

J Genet Couns 2019 04 18;28(2):388-397. Epub 2019 Feb 18.

Melbourne Genomics Health Alliance, Melbourne, Australia.

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http://dx.doi.org/10.1002/jgc4.1102DOI Listing
April 2019

Report of a bi-allelic truncating germline mutation in TP53.

Authors:
Natasha J Brown Kanika Bhatia Julie Teague Susan M White Patrick Lo Jackie Challis Victoria Beshay Michael Sullivan David Malkin Jordan R Hansford

Fam Cancer 2019 01;18(1):101-104

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s10689-018-0087-1DOI Listing
January 2019

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

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

Front Immunol 2018 15;9:529. Epub 2018 Mar 15.

Cancer Immunology Program, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

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http://dx.doi.org/10.3389/fimmu.2018.00529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862791PMC
May 2019

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

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

Brain 2016 Mar;139(Pt 3):765-81

1 Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK 6 Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK 48 Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK

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http://dx.doi.org/10.1093/brain/awv393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766378PMC
March 2016

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

Authors:
Zornitza Stark Joanna Behrsin Trent Burgess Anna Ritchie Alison Yeung Tiong Y Tan Natasha J Brown Ravi Savarirayan Neil Patel

Am J Med Genet A 2015 Oct 8;167A(10):2319-26. Epub 2015 Jun 8.

Newborn Intensive Care Unit, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37177DOI Listing
October 2015

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.

Authors:
Trent Burgess Natasha J Brown Zornitza Stark Damien L Bruno Ralph Oertel Belinda Chong Vanessa Calabro Andrew Kornberg Christine Sanderson Julian Kelly Katherine B Howell Ravi Savarirayan Rupert Hinds Anthea Greenway Howard R Slater Susan M White

Am J Med Genet A 2014 Jan 21;164A(1):77-86. Epub 2013 Nov 21.

Victorian Clinical Genetics Service, MCRI, Royal Children's Hospital, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36203DOI Listing
January 2014

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

Authors:
Kim Hynes Patrick Tarpey Leanne M Dibbens Marta A Bayly Samuel F Berkovic Raffaella Smith Zahyia Al Raisi Samantha J Turner Natasha J Brown Tarishi D Desai Eric Haan Gillian Turner John Christodoulou Helen Leonard Deepak Gill Michael R Stratton Jozef Gecz Ingrid E Scheffer

J Med Genet 2010 Mar 14;47(3):211-6. Epub 2009 Sep 14.

SA Pathology, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2009.068817
Publisher Site
http://dx.doi.org/10.1136/jmg.2009.068817DOI Listing
March 2010

Vaccination, seizures and 'vaccine damage'.

Authors:
Natasha J Brown Samuel F Berkovic Ingrid E Scheffer

Curr Opin Neurol 2007 Apr;20(2):181-7

Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia.

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http://dx.doi.org/10.1097/WCO.0b013e3280555160DOI Listing
April 2007