M B Delatycki

Affiliations

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, Melbourne, Australia.

Publications (84)

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

European journal of human genetics : EJHG

Avec: Edwin P Kirk , Royston Ong , Kirsten Boggs , Tristan Hardy , Sarah Righetti , Ben Kamien , Tony Roscioli , David J Amor , Madhura Bakshi , Clara W T Chung , Alison Colley , Robyn V Jamieson , Jan Liebelt , Alan Ma , Nicholas Pachter , Sulekha Rajagopalan , Anja Ravine , Meredith Wilson , Jade Caruana , Rachael Casella , Mark Davis , Samantha Edwards , Alison Archibald , Julie McGaughran , Ainsley J Newson , Nigel G Laing , Martin B Delatycki

Social media usage in family communication about genetic information: 'I no longer speak with my sister but she needed to know'.

Journal of genetic counseling

Avec: Sarah Leighton , Laura E Forrest , Mary-Anne Young , Martin B Delatycki , Elly Lynch

Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA.

Cerebellum (London, England)

Avec: Rosita Shishegar , Ian H Harding , Louise A Corben , Martin B Delatycki , Elsdon Storey , Gary F Egan , Nellie Georgiou-Karistianis

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.

Clinical genetics

Avec: Christopher M Richmond , Richard Leventer , Monique M Ryan , Martin B Delatycki

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

European journal of human genetics : EJHG

Avec: 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

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

American journal of human genetics

Avec: Haloom Rafehi , David J Szmulewicz , Mark F Bennett , Nara L M Sobreira , Kate Pope , Katherine R Smith , Greta Gillies , Peter Diakumis , Egor Dolzhenko , Michael A Eberle , María García Barcina , David P Breen , Andrew M Chancellor , Phillip D Cremer , Martin B Delatycki , Brent L Fogel , Anna Hackett , G Michael Halmagyi , Solange Kapetanovic , Anthony Lang , Stuart Mossman , Weiyi Mu , Peter Patrikios , Susan L Perlman , Ian Rosemergy , Elsdon Storey , Shaun R D Watson , Michael A Wilson , David S Zee , David Valle , David J Amor , Melanie Bahlo , Paul J Lockhart

Leigh syndrome caused by mutations in

Annals of clinical and translational neurology

Avec: Hannah Hayhurst , Irenaeus F M de Coo , Dorota Piekutowska-Abramczuk , Charlotte L Alston , Sunil Sharma , Kyle Thompson , Rocio Rius , Langping He , Sila Hopton , Rafal Ploski , Elzbieta Ciara , Nicole J Lake , Alison G Compton , Martin B Delatycki , Aad Verrips , Penelope E Bonnen , Simon A Jones , Andrew A Morris , David Shakespeare , John Christodoulou , Dorota Wesol-Kucharska , Dariusz Rokicki , Hubert J M Smeets , Ewa Pronicka , David R Thorburn , Grainne S Gorman , Robert McFarland , Robert W Taylor , Yi Shiau Ng

Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.

Hereditary cancer in clinical practice

Avec: Krithika Murali , Tanya M Dwarte , Mehrdad Nikfarjam , Katherine M Tucker , Rhys B Vaughan , Marios Efthymiou , Allison Collins , Allan D Spigelman , Lucinda Salmon , Amber L Johns , David B Williams , Martin B Delatycki , Thomas John , Alina Stoita

Reproduction and Genetic Responsibility: An Interpretive Description of Reproductive Decision-Making for Young People With Li-Fraumeni Syndrome.

Qualitative health research

Avec: Rowan Forbes Shepherd , Allison Werner-Lin , Louise A Keogh , Martin B Delatycki , Laura E Forrest

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.

Journal of medical genetics

Avec: Thomas Cloney , Lyndon Gallacher , Lynn S Pais , Natalie B Tan , Alison Yeung , Zornitza Stark , Natasha J Brown , George McGillivray , Martin B Delatycki , Michelle G de Silva , Lilian Downie , Chloe A Stutterd , Justine Elliott , Alison G Compton , Alysia Lovgren , Ralph Oertel , David Francis , Katrina M Bell , Simon Sadedin , Sze Chern Lim , Guy Helman , Cas Simons , Daniel G Macarthur , David R Thorburn , Anne H O'Donnell-Luria , John Christodoulou , Susan M White , Tiong Yang Tan

Balance Deficits due to Cerebellar Ataxia: A Machine Learning and Cloud-Based Approach.

IEEE transactions on bio-medical engineering

Avec: Thang Ngo , Pubudu N Pathirana , Malcolm K Horne , Laura Power , David J Szmulewicz , Sarah C Milne , Louise A Corben , Melissa Roberts , Martin B Delatycki

Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study.

Journal of neurology

Avec: Louisa P Selvadurai , Nellie Georgiou-Karistianis , Rosita Shishegar , Cathlin Sheridan , Gary F Egan , Martin B Delatycki , Ian H Harding , Louise A Corben

Evaluation of two population screening programmes for

BMJ open

Avec: Nicole E Cousens , Jane Tiller , Bettina Meiser , Kristine Barlow-Stewart , Simone Rowley , Yi-An Ko , Sakshi Mahale , Ian G Campbell , Rajneesh Kaur , Agnes Bankier , Leslie Burnett , Chris Jacobs , Paul A James , Alison Trainer , Suzanne Neil , Martin B Delatycki , Lesley Andrews

Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.

Journal of paediatrics and child health

Avec: Thomas A Forbes , Jane Wallace , Smitha Kumble , Martin B Delatycki , Zornitza Stark

The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Lucinda Freeman , Sarah Righetti , Martin B Delatycki , Jackie Leach Scully , Edwin P Kirk

Clinical impact of whole-genome sequencing in patients with early-onset dementia.

Journal of neurology, neurosurgery, and psychiatry

Avec: Aamira J Huq , Bryony Thompson , Mark F Bennett , Adam Bournazos , Shobhana Bommireddipalli , Alexandra Gorelik , Joshua Schultz , Adrienne Sexton , Rebecca Purvis , Kirsty West , Megan Cotter , Giulia Valente , Andrew Hughes , Moeen Riaz , Maie Walsh , Sarah Farrand , Samantha M Loi , Trevor Kilpatrick , Amy Brodtmann , David Darby , Dhamidhu Eratne , Mark Walterfang , Martin Bruce Delatycki , Elsdon Storey , Michael Fahey , Sandra Cooper , Paul Lacaze , Colin L Masters , Dennis Velakoulis , Melanie Bahlo , Paul A James , Ingrid Winship

Health professionals' views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study.

European journal of human genetics : EJHG

Avec: Grace Dowling , Jane Tiller , Aideen McInerney-Leo , Andrea Belcher , Casey Haining , Kristine Barlow-Stewart , Tiffany Boughtwood , Penny Gleeson , Martin B Delatycki , Ingrid Winship , Margaret Otlowski , Chris Jacobs , Louise Keogh , Paul Lacaze

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS.

Annals of clinical and translational neurology

Avec: Christian Rummey , Ian H Harding , Martin B Delatycki , Geneieve Tai , Thiago Rezende , Louise A Corben

"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.

European journal of human genetics : EJHG

Avec: Cassandra Muller , Lyndon Gallacher , Louise Keogh , Aideen McInerney-Leo , Tiffany Boughtwood , Penny Gleeson , Kristine Barlow-Stewart , Martin B Delatycki , Ingrid Winship , Kristen J Nowak , Margaret Otlowski , Paul Lacaze , Jane Tiller

Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Ian H Harding , Muhammad Ikhsan Nur Karim , Louisa P Selvadurai , Louise A Corben , Martin B Delatycki , Serena Monti , Francesco Saccà , Nellie Georgiou-Karistianis , Sirio Cocozza , Gary F Egan

The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia.

Cerebellum (London, England)

Avec: Louise A Corben , Eliza Blomfield , Geneieve Tai , Hiba Bilal , Ian H Harding , Nellie Georgiou-Karistianis , Martin B Delatycki , Adam P Vogel

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

Annals of neurology

Avec: Paola Dimartino , Mariia Zadorozhna , Verónica Yumiceba , Anna Basile , Ilaria Cani , Uirá Souto Melo , Jana Henck , Marjolein Breur , Caterina Tonon , Raffaele Lodi , Alfredo Brusco , Tommaso Pippucci , Foteini-Dionysia Koufi , Elisa Boschetti , Giulia Ramazzotti , Lucia Manzoli , Stefano Ratti , Filippo Pinto E Vairo , Martin B Delatycki , Giovanna Vaula , Pietro Cortelli , Marianna Bugiani , Malte Spielmann , Elisa Giorgio

International perspectives on the implementation of reproductive carrier screening.

Prenatal diagnosis

Avec: Martin B Delatycki , Fowzan Alkuraya , Alison Archibald , Carlo Castellani , Martina Cornel , Wayne W Grody , Lidewij Henneman , Adonis S Ioannides , Edwin Kirk , Nigel Laing , Anneke Lucassen , John Massie , Juliette Schuurmans , Meow-Keong Thong , Irene van Langen , Joël Zlotogora

Health professionals' practice for young people with, or at risk of, Li-Fraumeni syndrome: An Australasian survey.

Journal of genetic counseling

Avec: Rowan Forbes Shepherd , Louise A Keogh , Allison Werner-Lin , Martin B Delatycki , Laura E Forrest

Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study.

Human brain mapping

Avec: Louisa P Selvadurai , Louise A Corben , Martin B Delatycki , Elsdon Storey , Gary F Egan , Nellie Georgiou-Karistianis , Ian H Harding

Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.

Prenatal diagnosis

Avec: Hilary Bowman-Smart , Julian Savulescu , Christopher Gyngell , Cara Mand , Martin B Delatycki

Genetic discrimination by Australian insurance companies: a survey of consumer experiences.

European journal of human genetics : EJHG

Avec: Jane Tiller , Susan Morris , Toni Rice , Krystal Barter , Moeen Riaz , Louise Keogh , Martin B Delatycki , Margaret Otlowski , Paul Lacaze

Correction to: Genetic discrimination by Australian insurance companies: a survey of consumer experiences.

European journal of human genetics : EJHG

Avec: Jane Tiller , Susan Morris , Toni Rice , Krystal Barter , Moeen Riaz , Louise Keogh , Martin B Delatycki , Margaret Otlowski , Paul Lacaze

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Human mutation

Avec: Magdalena Koczkowska , Tom Callens , Yunjia Chen , Alicia Gomes , Alesha D Hicks , Angela Sharp , Eric Johns , Kim Armfield Uhas , Linlea Armstrong , Katherine Armstrong Bosanko , Dusica Babovic-Vuksanovic , Laura Baker , Donald G Basel , Mario Bengala , James T Bennett , Chelsea Chambers , Lola K Clarkson , Maurizio Clementi , Fanny M Cortés , Mitch Cunningham , M Daniela D'Agostino , Martin B Delatycki , Maria C Digilio , Laura Dosa , Silvia Esposito , Stephanie Fox , Mary-Louise Freckmann , Christine Fauth , Teresa Giugliano , Sandra Giustini , Allison Goetsch , Yael Goldberg , Robert S Greenwood , Cristin Griffis , Karen W Gripp , Punita Gupta , Eric Haan , Rachel K Hachen , Tamara L Haygarth , Concepción Hernández-Chico , Katelyn Hodge , Robert J Hopkin , Louanne Hudgins , Sandra Janssens , Kory Keller , Geraldine Kelly-Mancuso , Aaina Kochhar , Bruce R Korf , Andrea M Lewis , Jan Liebelt , Angie Lichty , Robert H Listernick , Michael J Lyons , Isabelle Maystadt , Mayra Martinez Ojeda , Carey McDougall , Lesley K McGregor , Daniela Melis , Nancy Mendelsohn , Malgorzata J M Nowaczyk , June Ortenberg , Karin Panzer , John G Pappas , Mary Ella Pierpont , Giulio Piluso , Valentina Pinna , Eniko K Pivnick , Dinel A Pond , Cynthia M Powell , Caleb Rogers , Noa Ruhrman Shahar , S Lane Rutledge , Veronica Saletti , Sarah A Sandaradura , Claudia Santoro , Ulrich A Schatz , Allison Schreiber , Daryl A Scott , Elizabeth A Sellars , Ruth Sheffer , Elizabeth Siqveland , John M Slopis , Rosemarie Smith , Alberto Spalice , David W Stockton , Haley Streff , Amy Theos , Gail E Tomlinson , Grace Tran , Pamela L Trapane , Eva Trevisson , Nicole J Ullrich , Jenneke Van den Ende , Samantha A Schrier Vergano , Stephanie E Wallace , Michael F Wangler , David D Weaver , Kaleb H Yohay , Elaine Zackai , Jonathan Zonana , Vickie Zurcher , Kathleen B M Claes , Marica Eoli , Yolanda Martin , Katharina Wimmer , Alessandro De Luca , Eric Legius , Ludwine M Messiaen

Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Phillip G D Ward , Ian H Harding , Thomas G Close , Louise A Corben , Martin B Delatycki , Elsdon Storey , Nellie Georgiou-Karistianis , Gary F Egan

Developing an Instrumented Measure of Upper Limb Function in Friedreich Ataxia.

Cerebellum (London, England)

Avec: Louise A Corben , Khoa D Nguyen , Pubudu N Pathirana , Malcolm K Horne , David J Szmulewicz , Melissa Roberts , Martin B Delatycki

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

International journal of molecular sciences

Avec: 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

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.

European journal of medical genetics

Avec: Lauren A Thomas , Sharon Lewis , John Massie , Edwin P Kirk , Alison D Archibald , Kristine Barlow-Stewart , Felicity K Boardman , Jane Halliday , Belinda McClaren , Martin B Delatycki

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

Molecular genetics & genomic medicine

Avec: 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

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.

Annals of clinical and translational neurology

Avec: Christian Rummey , John M Flynn , Louise A Corben , Martin B Delatycki , George Wilmot , Sub H Subramony , Khalaf Bushara , Antoine Duquette , Christopher M Gomez , J Chad Hoyle , Richard Roxburgh , Lauren Seeberger , Grace Yoon , Katherine D Mathews , Theresa Zesiewicz , Susan Perlman , David R Lynch

Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.

BMJ open

Avec: Sarah C Milne , Louise A Corben , Melissa Roberts , David Szmulewicz , J Burns , Anneke C Grobler , Shannon Williams , Jillian Chua , Christina Liang , Phillipa J Lamont , Alison C Grootendorst , Libby Massey , Carolyn Sue , Kim Dalziel , Desiree LaGrappe , Liz Willis , Aleka Freijah , Paul Gerken , Martin B Delatycki

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.

American journal of medical genetics. Part A

Avec: Essra Bartlett , Alison D Archibald , David Francis , Ling Ling , Rob Thomas , Gabrielle Chandler , Lisa Ward , Gemma O'Farrell , Alison Pandelache , Martin B Delatycki , Bruce H Bennetts , Gladys Ho , Katrina Fisk , Emma K Baker , David J Amor , David E Godler

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.

Neurology. Genetics

Avec: Maya Patel , Ashley McCormick , Jaclyn Tamaroff , Julia Dunn , Jonathan A Mitchell , Kimberly Y Lin , Jennifer Farmer , Christian Rummey , Susan L Perlman , Martin B Delatycki , George R Wilmot , Katherine D Mathews , Grace Yoon , Joseph Hoyle , Manuela Corti , S H Subramony , Theresa Zesiewicz , David Lynch , Shana E McCormack

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.

American journal of medical genetics. Part A

Avec: Chloe A Stutterd , Alexa Kidd , Chris Florkowski , Edward Janus , Miriam Fanjul , Anthony Raizis , Teddy Y Wu , John Archer , Richard J Leventer , David J Amor , Vesna Lukic , Melanie Bahlo , Paul Gow , Paul J Lockhart , Marjo S van der Knaap , Martin B Delatycki

Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome.

Australian journal of general practice

Avec: Rowan Forbes Shepherd , Louise A Keogh , Allison Werner-Lin , Martin B Delatycki , Laura E Forrest

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.

European journal of human genetics : EJHG

Avec: Haloom Rafehi , Cherie Green , Kiymet Bozaoglu , Greta Gillies , Martin B Delatycki , Paul J Lockhart , Ingrid E Scheffer , Melanie Bahlo

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.

Orphanet journal of rare diseases

Avec: Louise A Corben , Veronica Collins , Sarah Milne , Jennifer Farmer , Ann Musheno , David Lynch , Sub Subramony , Massimo Pandolfo , Jörg B Schulz , Kim Lin , Martin B Delatycki , Auteur inconnu

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

American journal of human genetics

Avec: 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 J Wallis , Ernest G Butler , Kishore R Kumar , Kathy Hc Wu , Susan E Tomlinson , Stephen Tisch , Abhishek Malhotra , Matthew Lee-Archer , Egor Dolzhenko , Michael A Eberle , Leslie J Roberts , Brent L Fogel , Norbert Brüggemann , Katja Lohmann , Martin B Delatycki , Melanie Bahlo , Paul J Lockhart

Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia.

Journal of neurology

Avec: Rebecca Kerestes , Hannah Cummins , Nellie Georgiou-Karistianis , Louisa P Selvadurai , Louise A Corben , Martin B Delatycki , Gary F Egan , Ian H Harding

Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.

Journal of genetic counseling

Avec: Lucinda Freeman , Lisa Bristowe , Edwin P Kirk , Martin B Delatycki , Jackie Leach Scully

New and Emerging Drug and Gene Therapies for Friedreich Ataxia.

CNS drugs

Avec: Varlli Scott , Martin B Delatycki , Geneieve Tai , Louise A Corben

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

American journal of human genetics

Avec: Maya Chopra , Meriel McEntagart , Jill Clayton-Smith , Konrad Platzer , Anju Shukla , Katta M Girisha , Anupriya Kaur , Parneet Kaur , Rolph Pfundt , Hermine Veenstra-Knol , Grazia M S Mancini , Gerarda Cappuccio , Nicola Brunetti-Pierri , Fanny Kortüm , Maja Hempel , Jonas Denecke , Anna Lehman , Auteur inconnu , Tjitske Kleefstra , Kyra E Stuurman , Martina Wilke , Michelle L Thompson , E Martina Bebin , Emilia K Bijlsma , Mariette J V Hoffer , Cacha Peeters-Scholte , Anne Slavotinek , William A Weiss , Tiffany Yip , Ugur Hodoglugil , Amy Whittle , Janette diMonda , Juanita Neira , Sandra Yang , Amelia Kirby , Hailey Pinz , Rosan Lechner , Frank Sleutels , Ingo Helbig , Sarah McKeown , Katherine Helbig , Rebecca Willaert , Jane Juusola , Jennifer Semotok , Medard Hadonou , John Short , Auteur inconnu , Naomi Yachelevich , Sajel Lala , Alberto Fernández-Jaen , Janvier Porta Pelayo , Chiara Klöckner , Susanne B Kamphausen , Rami Abou Jamra , Maria Arelin , A Micheil Innes , Anni Niskakoski , Sam Amin , Maggie Williams , Julie Evans , Sarah Smithson , Damian Smedley , Anna de Burca , Usha Kini , Martin B Delatycki , Lyndon Gallacher , Alison Yeung , Lynn Pais , Michael Field , Ellenore Martin , Perrine Charles , Thomas Courtin , Boris Keren , Maria Iascone , Anna Cereda , Gemma Poke , Véronique Abadie , Christel Chalouhi , Padmini Parthasarathy , Benjamin J Halliday , Stephen P Robertson , Stanislas Lyonnet , Jeanne Amiel , Christopher T Gordon

Sexual function, intimate relationships and Friedreich ataxia.

Journal of neurology

Avec: Louise A Corben , Mireille M Hermans , Alice Marks , Louise M Crowe , Martin B Delatycki

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.

Brain communications

Avec: Chloe A Stutterd , Stefanie Brock , Katrien Stouffs , Miriam Fanjul-Fernandez , Paul J Lockhart , George McGillivray , Simone Mandelstam , Kate Pope , Martin B Delatycki , Anna Jansen , Richard J Leventer

Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.

Australian journal of general practice

Avec: Martin B Delatycki , Nigel G Laing , Sarah J Moore , Jon Emery , Alison D Archibald , John Massie , Edwin P Kirk

Changes detected in swallowing function in Friedreich ataxia over 12 months.

Neuromuscular disorders : NMD

Avec: Megan Keage , Martin B Delatycki , Jessamy Dyer , Louise A Corben , Adam P Vogel

Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.

European journal of medical genetics

Avec: Mathew J Wallis , Amber Boys , Elisa Tassano , Martin B Delatycki

Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.

Reproductive biomedicine online

Avec: S R Catford , M K O'Bryan , R I McLachlan , M B Delatycki , L Rombauts

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.

Journal of the neurological sciences

Avec: Emily Xiong , Abigail E Lynch , Louise A Corben , Martin B Delatycki , S H Subramony , Khalaf Bushara , Christopher M Gomez , J Chad Hoyle , Grace Yoon , Bernard Ravina , Katherine D Mathews , George Wilmot , Theresa Zesiewicz , M Susan Perlman , Jennifer M Farmer , Christian Rummey , David R Lynch

Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making.

The American journal of bioethics : AJOB

Avec: Hilary Bowman-Smart , Christopher Gyngell , Cara Mand , David J Amor , Martin B Delatycki , Julian Savulescu

Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]-FEMPA PET Study.

Movement disorders : official journal of the Movement Disorder Society

Avec: Wasim Khan , Louise A Corben , Hiba Bilal , Lucy Vivash , Martin B Delatycki , Gary F Egan , Ian H Harding

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.

Journal of inherited metabolic disease

Avec: Edwin P Kirk , Martin B Delatycki , Nigel Laing

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

European journal of medical genetics

Avec: C A Stutterd , A Vanderver , P J Lockhart , G Helman , K Pope , E Uebergang , C Love , M B Delatycki , D Thorburn , M T Mackay , H Peters , A J Kornberg , C Patel , V Rodriguez-Casero , M Waak , J Silberstein , A Sinclair , M Nolan , M Field , M R Davis , M Fahey , I E Scheffer , J L Freeman , N I Wolf , R J Taft , M S van der Knaap , C Simons , R J Leventer

Federated Deep Learning for the Diagnosis of Cerebellar Ataxia: Privacy Preservation and Auto-Crafted Feature Extractor.

IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society

Avec: Thang Ngo , Dinh C Nguyen , Pubudu N Pathirana , Louise A Corben , Martin B Delatycki , Malcolm Horne , David J Szmulewicz , Melissa Roberts

A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Avec: Gary Rance , Alice Maier , Julien Zanin , Kristina M Haebich , Kathryn N North , Francesca Orsini , Gabriel Dabscheck , Martin B Delatycki , Jonathan M Payne

Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement.

PloS one

Avec: Roger E Peverill , Kimberly Y Lin , Mark A Fogel , Michael M H Cheung , W Stuart Moir , Louise A Corben , Glenn Cahoon , Martin B Delatycki

Population Screening for Hereditary Haemochromatosis-Should It Be Carried Out, and If So, How?

Genes

Avec: Martin B Delatycki , Katrina J Allen

Identification and Re-consent of Existing Cord Blood Donors for Creation of Induced Pluripotent Stem Cell Lines for Potential Clinical Applications.

Stem cells translational medicine

Avec: Keren M Abberton , Tricia L McDonald , Mary Diviney , Rhonda Holdsworth , Stephen Leslie , Martin B Delatycki , Lin Liu , Guy Klamer , Phillip Johnson , Ngaire J Elwood

A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.

PloS one

Avec: Nellie Georgiou-Karistianis , Louise A Corben , Kathrin Reetz , Isaac M Adanyeguh , Manuela Corti , Dinesh K Deelchand , Martin B Delatycki , Imis Dogan , Rebecca Evans , Jennifer Farmer , Marcondes C França , William Gaetz , Ian H Harding , Karen S Harris , Steven Hersch , Richard Joules , James J Joers , Michelle L Krishnan , Michelle Lax , Eric F Lock , David Lynch , Thomas Mareci , Sahan Muthuhetti Gamage , Massimo Pandolfo , Marina Papoutsi , Thiago J R Rezende , Timothy P L Roberts , Jens T Rosenberg , Sandro Romanzetti , Jörg B Schulz , Traci Schilling , Adam J Schwarz , Sub Subramony , Bert Yao , Stephen Zicha , Christophe Lenglet , Pierre-Gilles Henry

How Great a Risk Do You Take? A Qualitative Study Exploring Attitudes of Individuals with Friedreich Ataxia Toward Gene Therapy.

Human gene therapy

Avec: Katherine Lieschke , Varlli Scott , Martin B Delatycki , Sharon Lewis , Megan Munsie , Claire Tanner , Louise A Corben

Free-Water Imaging in Friedreich Ataxia Using Multi-Compartment Models.

Movement disorders : official journal of the Movement Disorder Society

Avec: Lara Fernandez , Louise A Corben , Hiba Bilal , Martin B Delatycki , Gary F Egan , Ian H Harding

Challenges facing repeat expansion identification, characterisation, and the pathway to discovery.

Emerging topics in life sciences

Avec: Justin L Read , Kayli C Davies , Genevieve C Thompson , Martin B Delatycki , Paul J Lockhart

Probing the multifactorial source of hand dysfunction in Friedreich ataxia.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Avec: Louise A Corben , Eppie M Yiu , Geneieve Tai , Sarah C Milne , Brigitte Lynch , Martin B Delatycki

Friedreich ataxia- pathogenesis and implications for therapies.

Neurobiology of disease

Avec: Martin B Delatycki , Sanjay I Bidichandani

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

JAMA

Avec: Auteur inconnu , 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

"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome.

Journal of psychosocial oncology

Avec: Rowan Forbes Shepherd , Allison Werner-Lin , Louise A Keogh , Martin B Delatycki , Laura E Forrest

The Assessment of Upper Limb Functionality in Friedreich Ataxia via Self-Feeding Activity.

IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society

Avec: Khoa D Nguyen , Louise A Corben , Pubudu N Pathirana , Malcolm K Horne , Martin B Delatycki , David J Szmulewicz

A family study implicates GBE1 in the etiology of autism spectrum disorder.

Human mutation

Avec: Miriam Fanjul-Fernández , Natasha J Brown , Peter Hickey , Peter Diakumis , Haloom Rafehi , Kiymet Bozaoglu , Cherie C Green , Audrey Rattray , Savannah Young , Dana Alhuzaimi , Hayley S Mountford , Greta Gillies , Vesna Lukic , Tanya Vick , Keri Finlay , Bradley P Coe , Evan E Eichler , Martin B Delatycki , Sarah J Wilson , Melanie Bahlo , Ingrid E Scheffer , Paul J Lockhart

Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1.

JAMA network open

Avec: Gary Rance , Julien Zanin , Alice Maier , Donella Chisari , Kristina M Haebich , Kathryn N North , Gabriel Dabscheck , Marc L Seal , Martin B Delatycki , Jonathan M Payne

Longitudinal investigation of brain activation during motor tasks in Friedreich ataxia: 24-month data from IMAGE-FRDA.

Brain structure & function

Avec: Rosita Shishegar , Ian H Harding , Louisa P Selvadurai , Louise A Corben , Martin B Delatycki , Gary F Egan , Nellie Georgiou-Karistianis

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

Journal of the neurological sciences

Avec: Dhamidhu Eratne , Amy Schneider , Ella Lynch , Melissa Martyn , Dennis Velakoulis , Michael Fahey , Patrick Kwan , Richard Leventer , Haloom Rafehi , Belinda Chong , Zornitza Stark , Sebastian Lunke , Dean G Phelan , Melanie O'Keefe , Kirby Siemering , Kirsty West , Adrienne Sexton , Anna Jarmolowicz , Jessica A Taylor , Joshua Schultz , Rebecca Purvis , Eloise Uebergang , Heather Chalinor , Belinda Creighton , Nikki Gelfand , Tamar Saks , Yael Prawer , Yana Smagarinsky , Tianxin Pan , Ilias Goranitis , Zanfina Ademi , Clara Gaff , Aamira Huq , Maie Walsh , Paul A James , Emma I Krzesinski , Mathew Wallis , Chloe A Stutterd , Melanie Bahlo , Martin B Delatycki , Samuel F Berkovic

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.

American journal of medical genetics. Part A

Avec: Anna I Jarmolowicz , Emma K Baker , Essra Bartlett , David Francis , Ling Ling , Dinusha Gamage , Martin B Delatycki , David E Godler

Quantitative Assessment of Friedreich Ataxia through the self-drinking activity.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

Avec: Ragil Krishna , Pubudu N Pathirana , Louise A Corben , Malcolm Horne , Martin B Delatycki , David J Szmulewicz

Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video.

Movement disorders clinical practice

Avec: Geneieve Tai , Louise A Corben , Ian R Woodcock , Eppie M Yiu , Martin B Delatycki

Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis.

Expert review of molecular diagnostics

Avec: Tianjiao Wang , Debra Kiss , Kathleen McFadden , Joshua Byrnes , Paul Scuffham , Martin B Delatycki , Martin Downes

A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice.

PloS one

Avec: Ian R Woodcock , George Tachas , Nuket Desem , Peter J Houweling , Michael Kean , Jaiman Emmanuel , Rachel Kennedy , Kate Carroll , Katy de Valle , Justine Adams , Shireen R Lamandé , Chantal Coles , Chrystal Tiong , Matthew Burton , Daniella Villano , Peter Button , Jean-Yves Hogrel , Sarah Catling-Seyffer , Monique M Ryan , Martin B Delatycki , Eppie M Yiu

Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy.

Prenatal diagnosis

Avec: Molly Johnston , Chanelle Warton , Mark D Pertile , Michelle Taylor-Sands , Martin B Delatycki , Lisa Hui , Julian Savulescu , Catherine Mills

Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.

Prenatal diagnosis

Avec: Lucinda Freeman , Martin B Delatycki , Jackie Leach Scully , Edwin P Kirk

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.

Movement disorders : official journal of the Movement Disorder Society

Avec: David R Lynch , Melanie P Chin , Sylvia Boesch , Martin B Delatycki , Paola Giunti , Angie Goldsberry , J Chad Hoyle , Caterina Mariotti , Katherine D Mathews , Wolfgang Nachbauer , Megan O'Grady , Susan Perlman , S H Subramony , George Wilmot , Theresa Zesiewicz , Colin J Meyer

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