Zornitza Stark

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Lisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, Meredith Wilson, Melissa Luig, Thushari Indika Alahakoon, Cheng Yee Nixon, Edwin P Kirk, Tony Roscioli, Sebastian Lunke, Zornitza Stark, Klaas J Wierenga, Sirish Palle, Maie Walsh, Emily Higgs, Susan Arbuckle, Shalini Thirukeswaran, Alison G Compton, David R Thorburn, John Christodoulou

Journal article  |  2020  |  Human Mutation

LARS2 variants are associated with Perrault syndrome, characterised by premature ovarian failure and hearing loss, and with an inf..

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

Ilias Goranitis, Stephanie Best, John Christodoulou, Zornitza Stark, Tiffany Boughtwood

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To estimate the personal utility and uptake of genomic sequencing (GS) across pediatric and adult-onset genetic condition..

Parental health spillover effects of paediatric rare genetic conditions

You Wu, Hareth Al-Janabi, Andrew Mallett, Catherine Quinlan, Ingrid E Scheffer, Katherine B Howell, John Christodoulou, Richard J Leventer, Paul J Lockhart, Zornitza Stark, Tiffany Boughtwood, Ilias Goranitis

Journal article  |  2020  |  Quality of Life Research

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Rosa Woldegebriel, Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H Wojcik, Emilia K Bijlsma, Mariëtte JV Hoffer, Monique M Ryan, Zornitza Stark, Maie Walsh, Inge Cuppen, Marie-Jose H van den Boogaard, Diana Bharucha-Goebel, Sandra Donkervoort, Sara Winchester, Roberto Zori, Carsten G Bönnemann, Reza Maroofian, Emer O'Connor, et al.

Journal article  |  2020  |  Human Molecular Genetics

Defects in the mRNA export scaffold protein GANP, encoded by the MCM3AP gene, cause autosomal recessive early-onset peripheral neu..

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.

Macarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, Hayley Goullee, Erik Andersen, Catriona McLean, Mark Davis, Ryosuke Ishimura, Zornitza Stark, Jean-Michel Vallat, Masaaki Komatsu, Andrew Kornberg, Monique Ryan, Nigel G Laing, Gina Ravenscroft

Journal article  |  2020  |  Journal of Medical Genetics

BACKGROUND: UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological..

Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome

Shivanthan Shanthikumar, Ajay Kevat, Rachel Stapleton, Sebastian Lunke, Zornitza Stark, Moya Vandeleur

Journal article  |  2020  |  Pediatric Pulmonology

Clinical genomic testing: what matters to key stakeholders?

Stephanie Best, Zornitza Stark, Peta Phillips, You Wu, Janet C Long, Natalie Taylor, Jeffrey Braithwaite, John Christodoulou, Ilias Goranitis

Journal article  |  2020  |  European Journal of Human Genetics

Beyond a narrow focus on cost and outcomes, robust evidence of what is valued in genomic medicine is scarce. We gathered views on ..

Treatment limitation and advance planning: Hospital-wide audit of paediatric death

Manon Audige, Lynn Gillam, Zornitza Stark

Journal article  |  2020  |  Journal of Paediatrics and Child Health

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

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

Journal article  |  2019  |  European Journal of Human Genetics

Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clin..

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

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

Journal article  |  2019  |  European Journal of Human Genetics

Diagnostic exome sequencing (ES) can be performed on the proband only (singleton; sES) or with additional samples, often including..

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton-Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, et al.

Journal article  |  2019  |  American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a ..

Drugs, genes and screens: The ethics of preventing and treating spinal muscular atrophy.

Christopher Gyngell, Zornitza Stark, Julian Savulescu

Journal article  |  2019  |  Bioethics

Spinal muscular atrophy (SMA) is the most common genetic disease that causes infant mortality. Its treatment and prevention repres..

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G Stefan, Helena Ahlfors, Robert Kleyner, Alan Rope, Aime Lumaka, Prosper Lukusa, Koenraad Devriendt, Joris Vermeesch, Jennifer E Posey, Elizabeth E Palmer, Lucinda Murray, Eyby Leon, Jullianne Diaz, et al.

Journal article  |  2019  |  Human Mutation

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pat..

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

Deborah Schofield, Luke Rynehart, Rupendra Shresthra, Susan M White, Zornitza Stark

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: To undertake the first end-to-end cost-effectiveness analysis of exome sequencing (ES) in rare disease diagnosis. METHODS..

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

Natalie B Tan, Tiong Yang Tan, Melissa M Martyn, Ravi Savarirayan, David J Amor, Amanda Moody, Susan M White, Zornitza Stark

Journal article  |  2019  |  Journal of Paediatrics and Child Health

AIM: To investigate the diagnostic and service impact of chromosomal microarray and whole exome sequencing (WES) in a neonatal int..

Rapid mitochondrial genome (mtDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care

LS Akesson, S Eggers, CJ Love, B Chong, MF Hunter, EI Krzesinski, NJ Brown, TY Tan, CM Richmond, DR Thorburn, J Christodoulou, Z Stark, S Lunke

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

A national approach to rapid genomic diagnosis in acute paediatrics

S Lunke, C Patel, M Wilson, J Pinner, SA Sandaradura, D Mowat, E Kirk, MF Hunter, EI Krzesinski, C Barnett, LS Akesson, CM Richmond, S Kumble, NB Tan, A Fennell, J Rogers, M Higgins, A Vasudevan, KB Howell, SM White, et al.

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

Zornitza Stark, Amy Nisselle, Belinda McClaren, Fiona Lynch, Stephanie Best, Janet C Long, Melissa Martyn, Chirag Patel, Luregn J Schlapbach, Christopher Barnett, Christiane Theda, Jason Pinner, Marcel E Dinger, Sebastian Lunke, Clara L Gaff

Journal article  |  2019  |  European Journal of Human Genetics

We investigated the attitudes of intensive care physicians and genetics professionals towards rapid genomic testing in neonatal an..

Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm

Kushani Jayasinghe, Susan M White, Peter G Kerr, Duncan MacGregor, Zornitza Stark, Ella Wilkins, Cas Simons, Andrew Mallett, Catherine Quinlan

Journal article  |  2019  |  BMC Nephrology

Axenfeld-Rieger syndrome as rare cause of umbilical abnormality

Z Ali, P Charan, JM Said, Z Stark

Journal article  |  2019  |  Ultrasound in Obstetrics & Gynecology

IREB2-associated neurodegeneration

Monica S Cooper, Zornitza Stark, Sebastian Lunke, Teresa Zhao, David J Amor

Journal article  |  2019  |  Brain

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol

Kushani Jayasinghe, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Hugh McCarthy, Randall Faull, Aron Chakera, Madhivanan Sundaram, Matthew Jose, Peter Kerr, You Wu, Louise Wardrop, Ilias Goranitis, Stephanie Best, Melissa Martyn, Catherine Quinlan, Andrew J Mallett

Journal article  |  2019  |  BMJ Open

INTRODUCTION: Recent advances in genomic technology have allowed better delineation of renal conditions, the identification of new..

Implementing rapid genomic testing in acute paediatric care in Australia

Stephanie Best, Janet C Long, Jeffrey Braithwaite, Natalie Taylor, Belinda Maclaren, Helen Brown, Sebastian Lunke, Zornitza Stark

Conference Proceedings  |  2019  |  IMPLEMENTATION SCIENCE

Implementing rapid genomic testing in acute paediatric care in Australia

Stephanie Best, Janet C Long, Jeffrey Braithwaite, Natalie Taylor, Belinda Maclaren, Helen Brown, Sebastian Lunke, Zornitza Stark

Conference Proceedings  |  2019  |  IMPLEMENTATION SCIENCE

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

Zornitza Stark, Tiffany Boughtwood, Peta Phillips, John Christodoulou, David P Hansen, Jeffrey Braithwaite, Ainsley J Newson, Clara L Gaff, Andrew H Sinclair, Kathryn N North

Journal article  |  2019  |  The American Journal of Human Genetics

Outcomes Following Treatment of Maternal Hypercalcemia Due to CYP24A1 Pathogenic Variants

Lucy McBride, Christine Houlihan, Catherine Quinlan, Betty Messazos, Zornitza Stark, Amy Crosthwaite

Journal article  |  2019  |  Kidney International Reports

Pooled-parent exome sequencing to prioritise de novo variants in genetic disease

Harriet Dashnow, Katrina Bell, Zornitza Stark, Tiong Tan, Susan White, Alicia Oshlack

Journal article  |  2019

Abstract In the clinical setting, exome sequencing has become standard-of-care in diagnosing rare genetic disorders, however many ..

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

Alison Pandelache, Emma K Baker, Solange M Aliaga, Marta Arpone, Robin Forbes, Zornitza Stark, David Francis, David E Godler

Journal article  |  2019  |  Genes

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tiong Yang Tan, Patrick Yap, Zornitza Stark, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Ellen Macnamara, Jennifer L Murphy, Elizabeth McCormick, et al.

Journal article  |  2019  |  Genetics in Medicine

DO HETEROZYGOUS LOSS-OF-FUNCTION VARIANTS IN MTOR CAUSE A TREATABLE NEURODEVELOPMENTAL PHENOTYPE?

SM White, E Bhoj, A Dauber, I Maystadt, M Crespin, Z Stark, D Amor, H Hakonarson, D Li

Conference Proceedings  |  2019  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates

Samantha Ayres, Lyndon Gallacher, Zornitza Stark, Gemma R Brett

Journal article  |  2019  |  Journal of Genetic Counseling

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Atteeq U Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V Hunter, Zeineb Bakey, Mari J Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A Santoni, Hanan Hamamy, Kaman Wu, Fatma Al-Jasmi, Martin Helmstaedter, et al.

Journal article  |  2019  |  Human Mutation

1 Renal genetics in Australia: Kidney medicine in the genomic age

Kushani Jayasinghe, Catherine Quinlan, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Louise Wardrop, Peter G Kerr, Peter Trnka, Andrew J Mallett

Journal article  |  2019  |  Nephrology

Cornelia de Lange syndrome in diverse populations.

Leah Dowsett, Antonio R Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta M Girisha, Anju Shukla, Shalini S Nayak, Vorasuk Shotelersuk, Andre Megarbane, Shubha Phadke, Nirmala D Sirisena, Vajira HW Dissanayake, Carlos R Ferreira, Monisha S Kisling, Pranoot Tanpaiboon, et al.

Journal article  |  2019  |  American Journal of Medical Genetics Part A

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, H..

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Jan M Friedman, Yvonne Bombard, Martina C Cornel, Conrad V Fernandez, Anne K Junker, Sharon E Plon, Zornitza Stark, Bartha Maria Knoppers

Journal article  |  2019  |  Genetics in Medicine

Rare cause of maternal and neonatal hypercalcaemia

Lucy McBride, Amy Crosthwaite, Christine Houlihan, Zornitza Stark, Christine Rodda

Journal article  |  2019  |  Journal of Paediatrics and Child Health

Integrating Genomics into Healthcare: A Global Responsibility

Zornitza Stark, Lena Dolman, Teri A Manolio, Brad Ozenberger, Sue L Hill, Mark J Caulfied, Yves Levy, David Glazer, Julia Wilson, Mark Lawler, Tiffany Boughtwood, Jeffrey Braithwaite, Peter Goodhand, Ewan Birney, Kathryn N North

Journal article  |  2019  |  The American Journal of Human Genetics

Rapid Challenges: Ethics and Genomic Neonatal Intensive Care

Christopher Gyngell, Ainsley J Newson, Dominic Wilkinson, Zornitza Stark, Julian Savulescu

Journal article  |  2019  |  Pediatrics

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White

Journal article  |  2019  |  Genetics in Medicine

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway

Chloe Stutterd, George McGillivray, Zornitza Stark, Betty Messazos, Fergus Cameron, Sue White, Ghayda Mirzaa, Richard Leventer

Journal article  |  2018  |  European Journal of Medical Genetics

Insights into the genotype-phenotype correlation and molecular function of SLC25A46

Alexander J Abrams, Flavia Fontanesi, Natalie BL Tan, Elena Buglo, Ion J Campeanu, Adriana P Rebelo, Andrew J Kornberg, Dean G Phelan, Zornitza Stark, Stephan Zuchner

Journal article  |  2018  |  Human Mutation

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y Tan, et al.

Journal article  |  2018  |  Genetics in Medicine

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency

Leisa Rebecca Watson, Charlotte A Slade, Samar Ojaimi, Sara Barnes, Pasquale Fedele, Prudence Smith, Justine Marum, Sebastian Lunke, Zornitza Stark, Matthew F Hunter, Vanessa L Bryant, Michael Sze Yuan Low

Journal article  |  2018  |  Allergy, Asthma & Clinical Immunology

MCM3AP in recessive axonal neuropathy and mild intellectual disability

E Ylikallio, R Woldegebriel, M Tumiati, P Isohanni, MM Ryan, Z Stark, W Maie, SL Sawyer, KM Bell, A Oshlack, PL Lockhart, M Shcherbii, A Estrada-Cuzcano, D Atkinson, T Hartley, M Tetreault, I Cuppen, WL van der Pol, A Candayan, E Battaloglu, et al.

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

SYT1-associated neurodevelopmental disorder: a case series

Kate Baker, Sarah L Gordon, Holly Melland, Fabian Bumbak, Daniel J Scott, Tess J Jiang, David Owen, Bradley J Turner, Stewart G Boyd, Mari Rossi, Mohammed Al-Raqad, Orly Elpeleg, Dawn Peck, Grazia MS Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias Haack, et al.

Journal article  |  2018  |  Brain

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner, William Lo, Hanka Venselaar, Carol-Ann Verrenkamp, Nicole Snow, David Mowat, Edwin Philip Kirk, Rani Sachdev, Janine Smith, Natasha Jane Brown, Mathew Wallis, Chris Barnett, Fiona McKenzie, Mary-Louise Freckmann, Felicity Collins, Maya Chopra, et al.

Journal article  |  2018  |  Genetics in Medicine

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

Raman Kumar, Alison Gardner, Claire C Homan, Evelyn Douglas, Heather Mefford, Dagmar Wieczorek, Hermann-Josef Luedecke, Zornitza Stark, Simon Sadedin, Catherine Bearce Nowak, Jessica Douglas, Gretchen Parsons, Paul Mark, Lourdes Loidi, Gail E Herman, Theresa Mihalic Mosher, Meredith K Gillespie, Lauren Brady, Mark Tarnopolsky, Irene Madrigal, et al.

Journal article  |  2018  |  Human Mutation

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Michelle M Clark, Zornitza Starke, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore

Journal article  |  2018  |  npj Genomic Medicine

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Ian R Woodcock, Manoj P Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M White, Rachel Stapleton, Dean G Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M Ryan, Colin Robertson, Eppie M Yiu

Journal article  |  2018  |  Seminars in Pediatric Neurology

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan

Journal article  |  2018  |  European Journal of Human Genetics

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study

Jane L Halliday, Cecile Muller, Taryn Charles, Fiona Norris, Joanne Kennedy, Sharon Lewis, Bettina Meiser, Susan Donath, Zornitza Stark, George McGillivray, Melody Menezes, Sian K Smith, Della Forster, Susan Walker, Mark Pertile, David J Amor

Journal article  |  2018  |  European Journal of Human Genetics

Meeting report of the 2017 KidGen Renal Genetics Symposium

Kushani Jayasinghe, Cathy Quinlan, Zornitza Stark, Chirag Patel, Matthew G Sampson, Moin Saleem, Andrew J Mallett

Journal article  |  2018  |  Human Genomics

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Tara Wenger, Dong Li, Margaret H Harr, Wen-Hann Tan, Renata Pellegrino, Zornitza Stark, Hakon Hakonarson, Elizabeth J Bhoj

Journal article  |  2018  |  American Journal of Medical Genetics Part A

Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ec..

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C Digilio, Abhijit Dixit, Matthew Edwards, Jan M Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, et al.

Journal article  |  2017  |  The American Journal of Human Genetics

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

Zornitza Stark, Harriet Dashnow, Sebastian Lunke, Tiong Y Tan, Alison Yeung, Simon Sadedin, Natalie Thorne, Ivan Macciocca, Clara Gaff, Alicia Oshlack, Susan M White, Paul A James

Journal article  |  2017  |  European Journal of Human Genetics

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, Deirdre E Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, undefined Broad Center for Mendelian Genomics, undefined DDD study, Meena Balasubramanian

Journal article  |  2017  |  American Journal of Medical Genetics Part A

Exome sequencing in the context of developmental disorders is a useful technique, but variants found need to be interpreted in the..

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J Robertson, et al.

Journal article  |  2017  |  JAMA Pediatrics

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M White, Clara Gaff

Journal article  |  2017  |  Genetics in Medicine

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, et al.

Journal article  |  2017  |  Brain

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

Journal article  |  2017  |  Journal of Human Genetics

KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by develo..

KBG syndrome: An Australian experience.

Natalia Murray, Bronwyn Burgess, Robin Hay, Alison Colley, Sulekha Rajagopalan, Julie McGaughran, Chirag Patel, Annabelle Enriquez, Linda Goodwin, Zornitza Stark, Tiong Tan, Meredith Wilson, Tony Roscioli, Mustafa Tekin, Himanshu Goel

Journal article  |  2017  |  American Journal of Medical Genetics Part A

In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been..

Genotype and phenotype spectrum of NRAS germline variants

Franziska Altmueller, Christina Lissewski, Debora Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M White, Marena R Niewisch, et al.

Journal article  |  2017  |  European Journal of Human Genetics

A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

Ashley PL Marsh, Patrick Yap, Tiong Tan, Kate Pope, Susan M White, Belinda Chong, George Mcgillivray, Amber Boys, Sarah EM Stephenson, Richard J Leventer, Zornitza Stark, Paul J Lockhart

Journal article  |  2017  |  American Journal of Medical Genetics Part A

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G Ekert, Christiane Theda, Paul A James, Joy Yaplito-Lee, Monique M Ryan, Richard J Leventer, et al.

Journal article  |  2016  |  Genetics in Medicine

Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?

Zornitza Stark, Jane Wallace, Lynn Gillam, Matthew Burgess, Martin B Delatycki

Journal article  |  2016  |  Journal of Medical Ethics

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature

Charlotte Burns, Abigail Cheung, Zornitza Stark, Sharon Choo, Lilian Downie, Sue White, Rachel Conyers, Theresa Cole

Journal article  |  2016  |  The Journal of Allergy and Clinical Immunology: In Practice

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Elena Buena-Atienza, Klaus Rüther, Britta Baumann, Richard Bergholz, David Birch, Elfride De Baere, Helene Dollfus, Marie T Greally, Peter Gustavsson, Christian P Hamel, John R Heckenlively, Bart P Leroy, Astrid S Plomp, Jan Willem R Pott, Katherine Rose, Thomas Rosenberg, Zornitza Stark, Joke BGM Verheij, Richard Weleber, Ditta Zobor, et al.

Journal article  |  2016  |  Scientific Reports

X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss ..

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Brian T Wilson, Zornitza Stark, Ruth E Sutton, Sumita Danda, Alka V Ekbote, Solaf M Elsayed, Louise Gibson, Judith A Goodship, Andrew P Jackson, Wee Teik Keng, Mary D King, Emma McCann, Toshino Motojima, Jennifer E Murray, Taku Omata, Daniela Pilz, Kate Pope, Katsuo Sugita, Susan M White, Ian J Wilson

Journal article  |  2016  |  Genetics in Medicine

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

Brian T Wilson, Anneline Lochan, Zornitza Stark, Ruth E Sutton

Journal article  |  2016  |  American Journal of Medical Genetics Part A

Cockayne syndrome is caused by biallelic ERCC8 (CSA) or ERCC6 (CSB) mutations and is characterized by growth restriction, microcep..

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Margot RF Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M Mancini, Rolph Pfundt, Ka Man Wu, Conny MA van Ravenswaaij-Arts, Hermine E Veenstra-Knol, Britt-Marie M Anderlid, Stephen A Wood, Sau Wai Cheung, Angela Barnicoat, Frank Probst, Pilar Magoulas, Alice S Brooks, Helena Malmgren, Arja Harila-Saari, Carlo M Marcelis, Maaike Vreeburg, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males..

Severe connective tissue laxity including aortic dilatation in Sotos syndrome.

Rebecca L Hood, George McGillivray, Matthew F Hunter, Stephen P Roberston, Dennis E Bulman, Kym M Boycott, Zornitza Stark, undefined Care4Rare Canada Consortium

Journal article  |  2016  |  American Journal of Medical Genetics Part A

Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases

Patrick Yap, George McGillivray, Fiona Norris, Joanne M Said, Louise Kornman, Zornitza Stark

Journal article  |  2015  |  Prenatal Diagnosis

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.

Michael P Guy, Marie Shaw, Catherine L Weiner, Lynne Hobson, Zornitza Stark, Katherine Rose, Vera M Kalscheuer, Jozef Gecz, Eric M Phizicky

Journal article  |  2015  |  Human Mutation

tRNA modifications are crucial for efficient and accurate protein synthesis, and modification defects are frequently associated wi..

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Christina Lissewski, Sarina G Kant, Zornitza Stark, Ina Schanze, Martin Zenker

Journal article  |  2015  |  American Journal of Medical Genetics Part A

The RASopathies comprise a group of clinically overlapping developmental syndromes the common pathogenetic basis of which is dysre..

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

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

Journal article  |  2015  |  American Journal of Medical Genetics Part A

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.

Zornitza Stark, David Francis, Lydia Gaffney, Jacqueline Greenberg, Louise Hills, Xin Li, David E Godler, Howard R Slater

Journal article  |  2015  |  American Journal of Medical Genetics Part A

Metronidazole Toxicity in Cockayne Syndrome: A Case Series.

Brian T Wilson, Andrew Strong, Sean O'Kelly, Jennifer Munkley, Zornitza Stark

Journal article  |  2015  |  PEDIATRICS

Cockayne syndrome (CS) is a rare genetic disorder characterized by small stature, intellectual disability, and accelerated patholo..

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon P Sadedin, Harriet Dashnow, Paul A James, Melanie Bahlo, Denis C Bauer, Andrew Lonie, Sebastian Lunke, Ivan Macciocca, Jason P Ross, Kirby R Siemering, Zornitza Stark, Susan M White, Graham Taylor, Clara Gaff, Alicia Oshlack, Natalie P Thorne

Journal article  |  2015  |  Genome Medicine

Partial hydatidiform mole following intracytoplasmic sperm injection and transfer of a cryopreserved-thawed blastocyst.

J May, Z Stark, P Thomas

Journal article  |  2015  |  Journal of Obstetrics and Gynaecology

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

Dorien Schepers, Alexander J Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Patrick J Willems, Sahar Mansour, Michael A Simpson, Helena Frysira, Anneke Maat-Kievit, Rick Van Minkelen, Jeanette M Hoogeboom, Geert R Mortier, Hannah Titheradge, Louise Brueton, Lois Starr, Zornitza Stark, Charlotte Ockeloen, Charles Marques Lourenco, Ed Blair, et al.

Journal article  |  2015  |  European Journal of Human Genetics

Shprintzen-Goldberg syndrome (SGS) is a rare, systemic connective tissue disorder characterized by craniofacial, skeletal, and car..

Apert syndrome: temporal lobe abnormalities on fetal brain imaging

Zornitza Stark, George McGillivray, Amanda Sampson, Ricardo Palma-Dias, Andrew Edwards, Joanne M Said, Gillian Whiteley, A Michelle Fink

Journal article  |  2015  |  Prenatal Diagnosis

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Luzie Bülow, Christina Lissewski, Rainer Bressel, Anita Rauch, Zornitza Stark, Martin Zenker, Oliver Bartsch

Journal article  |  2015  |  American Journal of Medical Genetics Part A

Fetal hydrops, fetal pleural effusions, hydrothorax, and chylothorax, may be associated with various genetic disorders, in particu..

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G Kant, Zornitza Stark, Valérie Cormier-Daire, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer-Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Celine Huber, Izabela Harabula, Malte Spielmann, Denise Horn, et al.

Journal article  |  2014  |  The American Journal of Human Genetics

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyl..

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Kerry A Miller, Tiong Y Tan, Megan F Welfare, Susan M White, Zornitza Stark, Ravi Savarirayan, Trent Burgess, Andrew A Heggie, Georgina Caruana, John F Bertram, John F Bateman, Peter G Farlie

Journal article  |  2014  |  Molecular Syndromology

The 22q11.2 deletion syndrome (22q11DS) is thought to be a contiguous gene syndrome caused by haploinsufficiency for a variable nu..

Spot Diagnosis

Zornitza Stark, Lynda J Campbell, Catherine Mitchell, Paul A James, John A Heath, Alex Boussioutas, Craig Lynch, Alison H Trainer

Journal article  |  2014  |  New England Journal of Medicine

Parentage determination: a medical responsibility?

Z Stark, MB Delatycki

Journal article  |  2014  |  Journal of Medical Ethics

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J Kaiser, Morad Ansari, Diana Braunholz, Maria Concepcion Gil-Rodriguez, Christophe Decroos, Jonathan J Wilde, Christopher T Fincher, Maninder Kaur, Masashige Bando, David J Amor, Paldeep S Atwal, Melanie Bahlo, Christine M Bowman, Jacquelyn J Bradley, Han G Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, et al.

Journal article  |  2014  |  Human Molecular Genetics

Erratum: Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without jeune asphyxiating thoracic dystrophy (American Journal of Human Genetics (2014) 94 (62-72))

K Tuz, R Bachmann-Gagescu, DR O'Day, K Hua, CR Isabella, IG Phelps, AE Stolarski, BJ O'Roak, JC Dempsey, C Lourenco, A Alswaid, CG Bönnemann, L Medne, S Nampoothiri, Z Stark, RJ Leventer, M Topçu, A Cansu, S Jagadeesh, S Done, et al.

Journal article  |  2014  |  The American Journal of Human Genetics

Severe fetal ischaemic brain injury caused by homozygous protein C deficiency

C Stutterd, H Savoia, AM Fink, Z Stark

Journal article  |  2014  |  Prenatal Diagnosis

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Karma Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, Kiet Hua, Christine R Isabella, Ian G Phelps, Allan E Stolarski, Brian J O'Roak, Jennifer C Dempsey, Charles Lourenco, Abdulrahman Alswaid, Carsten G Boennemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J Leventer, Meral Topcu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, et al.

Journal article  |  2014  |  American Journal of Human Genetics

Characterization of Core Clinical Phenotypes Associated With Recurrent Proximal 15q25.2 Microdeletions

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

Journal article  |  2014  |  American Journal of Medical Genetics. Part A

5q31.3 Microdeletion Syndrome: Clinical and Molecular Characterization of Two Further Cases

Natasha Brown, Trent Burgess, Robin Forbes, George McGillivray, Andrew Kornberg, Simone Mandelstam, Zornitza Stark

Journal article  |  2013  |  American Journal of Medical Genetics. Part A

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Frederique Bena, Damien L Bruno, Mats Eriksson, Conny van Ravenswaaij-Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann Charlotte Thuresson, Audrey Labalme, Marianne Till, Frederic Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, et al.

Journal article  |  2013  |  American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics

Ethical controversies in prenatal microarray

Zornitza Stark, Lynn Gillam, Susan P Walker, George McGillivray

Journal article  |  2013  |  Current Opinion in Obstetrics & Gynaecology

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

Zornitza Stark, John Massie, Belinda McClaren, Liane Ioannou, Nicole Cousens, Sharon Lewis, Sylvia Metcalfe, Martin B Delatycki

Journal article  |  2013  |  Twin Research and Human Genetics

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature

Zornitza Stark, Alessandra Pangrazio, George McGillivray, A Michelle Fink

Journal article  |  2013  |  European Journal of Medical Genetics

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype

Z Stark, G Gillessen-Kaesbach, MM Ryan, IC Cirstea, L Gremer, MR Ahmadian, R Savarirayan, M Zenker

Journal article  |  2012  |  Clinical Genetics

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

Damien L Bruno, Zornitza Stark, David J Amor, Trent Burgess, Kathy Butler, Sylvea Corrie, David Francis, Devika Ganesamoorthy, Louise Hills, Paul A James, Darren O'Rielly, Ralph Oertel, Ravi Savarirayan, Krishnamurthy Prabhakara, Nicholas Salce, Howard R Slater

Journal article  |  2011  |  Human Mutation

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

DL Bruno, SM White, D Ganesamoorthy, T Burgess, K Butler, S Corrie, D Francis, L Hills, K Prabhakara, C Ngo, F Norris, R Oertel, MD Pertile, Z Stark, DJ Amor, HR Slater

Journal article  |  2011  |  Journal of Medical Genetics

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

Zornitza Stark, Rebecca Storen, Bruce Bennetts, Ravi Savarirayan, Robyn V Jamieson

Journal article  |  2011  |  European Journal of Human Genetics

Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities

Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, Christopher T Gordon, Richard J Leventer, Kate Pope, Robin Forbes, John A Crolla, Devika Ganesamoorthy, Trent Burgess, Damien L Bruno, Howard R Slater, Peter G Farlie, David J Amor

Journal article  |  2011  |  American Journal of Medical Genetics. Part A

A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.

Anita L Lasocki, Zornitza Stark, David Orchard

Journal article  |  2011  |  Australasian Journal of Dermatology

We present the case of a boy with a clinical diagnosis of Goltz (focal dermal hypoplasia) syndrome. This is a rare genodermatosis ..

Atypical Silver-Russell Phenotype Resulting From Maternal Uniparental Disomy of Chromosome 7

Zornitza Stark, Monique M Ryan, Damien L Bruno, Trent Burgess, Ravi Savarirayan

Journal article  |  2010  |  American Journal of Medical Genetics. Part A

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

Zornitza Stark, Damien L Bruno, Hayley Mountford, Paul J Lockhart, David J Amor

Journal article  |  2010  |  European Journal of Medical Genetics

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, MC Vincent, L Pasquier, S Odent, V Cormier-Daire, B Gener, ES Tobias, JL Tolmie, D Martin-Coignard, V Drouin-Garraud, D Heron, H Journel, E Raffo, J Vigneron, S Lyonnet, V Murday, et al.

Journal article  |  2010  |  Human Mutation

Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment,..

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

J Wincent, DL Bruno, BWM van Bon, A Bremer, H Stewart, EMHF Bongers, CW Ockeloen, MH Willemsen, DDA Keays, G Baird, DF Newbury, T Kleefstra, C Marcelis, U Kini, Z Stark, R Savarirayan, LJ Sheffield, O Zuffardi, HR Slater, BB de Vries, et al.

Journal article  |  2010  |  Molecular Syndromology

The chromosome region 22q11.2 has long been recognized to be susceptible to genomic rearrangement. More recently, this genomic ins..

Osteopetrosis

Zornitza Stark, Ravi Savarirayan

Journal article  |  2009  |  Orphanet Journal of Rare Diseases

Discussing withholding and withdrawing of life-sustaining medical treatment in paediatric inpatients: audit of current practice.

Zornitza Stark, Jenny Hynson, Mike Forrester

Journal article  |  2008  |  Journal of Paediatrics and Child Health

AIM: To understand the circumstances of inpatient deaths at a tertiary paediatric hospital and current practices regarding the tim..

Discussing withdrawing and withholding of life-sustaining medical treatment in a tertiary paediatric hospital: a survey of clinician attitudes and practices.

Tom Forbes, Emma Goeman, Zornitza Stark, Jenny Hynson, Mike Forrester

Journal article  |  2008  |  Journal of Paediatrics and Child Health

AIM: To better understand current attitudes and practices relating to discussions concerning the withholding and withdrawing of li..

Triad of tracheoesophageal fistula-esophageal atresia, pulmonary hypoplasia, and duodenal atresia.

Zornitza Stark, Neil Patel, Tom Clarnette, Amanda Moody

Journal article  |  2007  |  Journal of Pediatric Surgery

We describe 3 cases of tracheoesophageal fistula with esophageal atresia who also had right pulmonary hypoplasia-aplasia and duode..

The impact of inluenza A on children with disabilities

ZL Stark, JP Buttery, GC Antolovich, DS Reddihough

Journal article  |  2004  |  Journal of Paediatrics and Child Health

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison G Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Y Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Christodoulou, Susan M White, David R Thorburn, David A Stroud, Zornitza Stark, Cas Simons

Journal article

The diagnosis of mitochondrial disorders remains a challenging and often unmet need. We sought to investigate a sibling pair with ..