Zornitza Stark

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

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  |  2020  |  Human Mutation

The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet nee..

JARID2haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A Verberne, Shuxiang Goh, Jade England, Manon van Ginkel, Louise Rafael-Croes, Saskia Maas, Abeltje Polstra, Yuri A Zarate, Katherine A Bosanko, Kieran B Pechter, Emma Bedoukian, Kosuke Izumi, Ayeshah Chaudhry, Nathaniel H Robin, Megan Boothe, Natalie C Lippa, Vimla Aggarwal, Darryl C De Vivo, Anna Lehman, Sylvia Stockler, et al.

Journal article  |  2020  |  Genetics in Medicine

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

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

Journal article  |  2020  |  Molecular Genetics & Genomic Medicine

BACKGROUND: Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases r..

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathleen Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily J See, Andrew Talbot, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidne..

Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Katherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, Yuying Zhao, Erwin Brosens, Grazia MS Mancini, Rachel Schot, Dicky Halley, Martina Wilke, Arve Vollo, Frances Flinter, Andrew Green, Sahar Mansour, Jacek Pilch, Zornitza Stark, Eleni Zamba-Papanicolaou, Violetta Christophidou-Anastasiadou, Robert MW Hofstra, Jan DH Jongbloed, Nayia Nicolaou, et al.

Journal article  |  2020  |  Human Mutation

Goldberg-Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). However, ..

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygousASNSsplicing variant in a critically ill neonate

Lauren S Akesson, Adam Bournazos, Andrew Fennell, Emma I Krzesinski, Kenneth Tan, Amanda Springer, Katherine Rose, Ilias Goranitis, David Francis, Crystle Lee, Fathimath Faiz, Mark R Davis, John Christodoulou, Sebastian Lunke, Zornitza Stark, Matthew F Hunter, Sandra T Cooper

Journal article  |  2020  |  Human Mutation

Rapid genomic diagnosis programs are transforming rare disease diagnosis in acute pediatrics. A ventilated newborn with cerebellar..

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

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

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To estimate the value of genomic sequencing for complex pediatric neurological disorders of suspected genetic origin. MET..

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

Alison Yeung, Natalie B Tan, Tiong Y Tan, Zornitza Stark, Natasha Brown, Matthew F Hunter, Martin Delatycki, Chloe Stutterd, Ravi Savarirayan, George Mcgillivray, Rachel Stapleton, Smitha Kumble, Lilian Downie, Matthew Regan, Sebastian Lunke, Belinda Chong, Dean Phelan, Gemma R Brett, Anna Jarmolowicz, Yael Prawer, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions..

The expandingLARS2phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Lisa G Riley, Joelle 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, characterized by premature ovarian failure and hearing loss, and with an inf..

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Gemma R Brett, Melissa Martyn, Fiona Lynch, Michelle G de Silva, Samantha Ayres, Lyndon Gallacher, Kirsten Boggs, Anne Baxendale, Sarah Schenscher, Sarah King-Smith, Lindsay Fowles, Amanda Springer, Sebastian Lunke, Anand Vasudevan, Emma Krzesinski, Jason Pinner, Sarah A Sandaradura, Christopher Barnett, Chirag Patel, Meredith Wilson, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children. METHODS: ..