Jason Pinner

Affiliations

Sydney Children's Hospitals Network-Randwick, Sydney, Australia.

Publications (17)

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

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

Avec: 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 , Zornitza Stark

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

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Nature medicine

Avec: Alicia B Byrne , Peer Arts , Thuong T Ha , Karin S Kassahn , Lynn S Pais , Anne O'Donnell-Luria , Auteur inconnu , Milena Babic , Mahalia S B Frank , Jinghua Feng , Paul Wang , David M Lawrence , Leila Eshraghi , Luis Arriola , John Toubia , Hung Nguyen , Auteur inconnu , George McGillivray , Jason Pinner , Fiona McKenzie , Rebecca Morrow , Jill Lipsett , Nick Manton , T Yee Khong , Lynette Moore , Jan E Liebelt , Andreas W Schreiber , Sarah L King-Smith , Tristan S E Hardy , Matilda R Jackson , Christopher P Barnett , Hamish S Scott

Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years.

Brain & development

Avec: Patrick H Hosie , Carylyn Lim , Timothy R D Scott , Michael Cardamone , Michelle A Farrar , Catherine Frith , Peter I Andrews , Jason Pinner , Sekhar Pillai

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel

Frontiers in endocrinology

Avec: Pei Jin Lim , Giulio Marcionelli , Pakeerathan Srikanthan , Timothée Ndarugendamwo , Jason Pinner , Marianne Rohrbach , Cecilia Giunta

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Human mutation

Avec: Samantha J Bryen , Lisa J Ewans , Jason Pinner , Suzanna C MacLennan , Sandra Donkervoort , Diana Castro , Ana Töpf , Gina O'Grady , Beryl Cummings , Katherine R Chao , Ben Weisburd , Laurent Francioli , Fathimath Faiz , Adam M Bournazos , Ying Hu , Carla Grosmann , Denise M Malicki , Helen Doyle , Nanna Witting , John Vissing , Kristl G Claeys , Kathryn Urankar , Ana Beleza-Meireles , Julia Baptista , Sian Ellard , Marco Savarese , Mridul Johari , Anna Vihola , Bjarne Udd , Anirban Majumdar , Volker Straub , Carsten G Bönnemann , Daniel G MacArthur , Mark R Davis , Sandra T Cooper

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.

NPJ genomic medicine

Avec: Stephanie Best , Helen Brown , Sebastian Lunke , Chirag Patel , Jason Pinner , Christopher P Barnett , Meredith Wilson , Sarah A Sandaradura , Belinda McClaren , Gemma R Brett , Jeffrey Braithwaite , Zornitza Stark

Energy Healers' Distance Healing Experience.

Journal of holistic nursing : official journal of the American Holistic Nurses' Association

Avec: Diane Wind Wardell , Cathy Rozmus , Janet Pinner

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

European journal of human genetics : EJHG

Avec: Theodore G Drivas , Dong Li , Divya Nair , Joseph T Alaimo , Mariëlle Alders , Janine Altmüller , Tahsin Stefan Barakat , E Martina Bebin , Nicole L Bertsch , Patrick R Blackburn , Alyssa Blesson , Arjan M Bouman , Knut Brockmann , Perrine Brunelle , Margit Burmeister , Gregory M Cooper , Jonas Denecke , Anne Dieux-Coëslier , Holly Dubbs , Alejandro Ferrer , Danna Gal , Lauren E Bartik , Lauren B Gunderson , Linda Hasadsri , Mahim Jain , Catherine Karimov , Beth Keena , Eric W Klee , Katja Kloth , Baiba Lace , Marina Macchiaiolo , Julien L Marcadier , Jeff M Milunsky , Melanie P Napier , Xilma R Ortiz-Gonzalez , Pavel N Pichurin , Jason Pinner , Zoe Powis , Chitra Prasad , Francesca Clementina Radio , Kristen J Rasmussen , Deborah L Renaud , Eric T Rush , Carol Saunders , Duygu Selcen , Ann R Seman , Deepali N Shinde , Erica D Smith , Thomas Smol , Lot Snijders Blok , Joan M Stoler , Sha Tang , Marco Tartaglia , Michelle L Thompson , Jiddeke M van de Kamp , Jingmin Wang , Dagmar Weise , Karin Weiss , Rixa Woitschach , Bernd Wollnik , Huifang Yan , Elaine H Zackai , Giuseppe Zampino , Philippe Campeau , Elizabeth Bhoj

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

European journal of human genetics : EJHG

Avec: 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

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

American journal of medical genetics. Part A

Avec: Anna Hau , Anne Baxter , Kate Chandler , Andrew Fennell , Tzung-Chien Hsieh , Peter M Krawitz , Jason Pinner , Himanshu Goel

Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy.

Diabetic medicine : a journal of the British Diabetic Association

Avec: R A M Taylor , A Mackie , R Mogra , J Pinner , S Rajendran , G P Ross

Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

American journal of medical genetics. Part A

Avec: Carey-Anne Evans , Jason Pinner , Cheng Y Chan , Lucy Bowyer , David Mowat , Michael F Buckley , Tony Roscioli

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Caitlin Forwood , Katie Ashton , Ying Zhu , Futao Zhang , Kerith-Rae Dias , Krystle Standen , Carey-Anne Evans , Louise Carey , Michael Cardamone , Carolyn Shalhoub , Hala Katf , Carlos Riveros , Tzung-Chien Hsieh , Peter Krawitz , Peter N Robinson , Tracy Dudding-Byth , Bekim Sadikovic , Jason Pinner , Michael F Buckley , Tony Roscioli

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

Epilepsia

Avec: Karen L Oliver , Marina Trivisano , Simone A Mandelstam , Angela De Dominicis , David I Francis , Timothy E Green , Alison M Muir , Apoorva Chowdhary , Christoph Hertzberg , Klaus Goldhahn , Julia Metreau , Christine Prager , Jason Pinner , Michael Cardamone , Kenneth A Myers , Richard J Leventer , Gaetan Lesca , Melanie Bahlo , Michael S Hildebrand , Heather C Mefford , Angela M Kaindl , Nicola Specchio , Ingrid E Scheffer

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

Nature medicine

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

Critically unwell infants and children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing.

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

Avec: Megan Ball , Sophie E Bouffler , Christopher B Barnett , Mary-Louise Freckmann , Matthew F Hunter , Benjamin Kamien , Karin S Kassahn , Sebastian Lunke , Chirag V Patel , Jason Pinner , Tony Roscioli , Sarah A Sandaradura , Hamish S Scott , Tiong Y Tan , Mathew Wallis , Alison G Compton , David R Thorburn , Zornitza Stark , John Christodoulou

Réseau de co-auteurs

Sebastian Lunke 6 collaborations

Zornitza Stark 6 collaborations

Sarah A Sandaradura 5 collaborations

Gemma R Brett 4 collaborations

Chirag Patel 4 collaborations

Meredith Wilson 4 collaborations

Christopher P Barnett 4 collaborations

Tony Roscioli 4 collaborations

Melissa Martyn 3 collaborations

Michelle G de Silva 3 collaborations

Kirsten Boggs 3 collaborations

Amanda Springer 3 collaborations

None None 3 collaborations

Michael F Buckley 3 collaborations

Matthew F Hunter 3 collaborations

Tiong Y Tan 3 collaborations

Stephanie Best 3 collaborations

John Christodoulou 3 collaborations

Karin S Kassahn 3 collaborations

Hamish S Scott 3 collaborations

Michael Cardamone 3 collaborations

Fiona Lynch 2 collaborations

Samantha Ayres 2 collaborations

Lyndon Gallacher 2 collaborations

Anne Baxendale 2 collaborations

Lindsay Fowles 2 collaborations

Anand Vasudevan 2 collaborations

Christopher Barnett 2 collaborations

Stefanie Eggers 2 collaborations

David Mowat 2 collaborations

Belinda Chong 2 collaborations

Andrew Fennell 2 collaborations

Dean Phelan 2 collaborations

Simon Sadedin 2 collaborations

Luregn J Schlapbach 2 collaborations

Christiane Theda 2 collaborations

Ying Zhu 2 collaborations

Peer Arts 2 collaborations

Matilda R Jackson 2 collaborations

Belinda McClaren 2 collaborations

Tzung-Chien Hsieh 2 collaborations

Carey-Anne Evans 2 collaborations

Sophie E Bouffler 2 collaborations

Chirag V Patel 2 collaborations

Mathew Wallis 2 collaborations

Benjamin Kamien 2 collaborations

Mary-Louise Freckmann 2 collaborations

Alison G Compton 2 collaborations

David R Thorburn 2 collaborations

Sarah Schenscher 1 collaboration

Sarah King-Smith 1 collaboration

Emma Krzesinski 1 collaboration

Emma I Krzesinski 1 collaboration

Edwin P Kirk 1 collaboration

Lesley C Adès 1 collaboration

Lauren S Akesson 1 collaboration

David J Amor 1 collaboration

Sarah Borrie 1 collaboration

Alessandra Bray 1 collaboration

Natasha J Brown 1 collaboration

Cheng Yee Chan 1 collaboration

Corrina Cliffe 1 collaboration

Martin B Delatycki 1 collaboration

Matthew Edwards 1 collaboration

George Elakis 1 collaboration

Michael C Fahey 1 collaboration

Megan Higgins 1 collaboration

Katherine B Howell 1 collaboration

Lauren Hunt 1 collaboration

Kristi J Jones 1 collaboration

Sarah King 1 collaboration

Smitha Kumble 1 collaboration

Sarah Lang 1 collaboration

Maelle Le Moing 1 collaboration

Alan Ma 1 collaboration

Michael C J Quinn 1 collaboration

Anna Richards 1 collaboration

Christopher M Richmond 1 collaboration

Jessica Riseley 1 collaboration

Jonathan Rodgers 1 collaboration

Rani Sachdev 1 collaboration

Janine Smith 1 collaboration

Natalie B Tan 1 collaboration

Suzanna L Temple 1 collaboration

Susan M White 1 collaboration

Alison Yeung 1 collaboration

Alicia B Byrne 1 collaboration

Thuong T Ha 1 collaboration

Lynn S Pais 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Milena Babic 1 collaboration

Mahalia S B Frank 1 collaboration

Jinghua Feng 1 collaboration

Paul Wang 1 collaboration

David M Lawrence 1 collaboration

Leila Eshraghi 1 collaboration

Luis Arriola 1 collaboration

John Toubia 1 collaboration

Hung Nguyen 1 collaboration

George McGillivray 1 collaboration

Fiona McKenzie 1 collaboration

Rebecca Morrow 1 collaboration

Jill Lipsett 1 collaboration

Nick Manton 1 collaboration

T Yee Khong 1 collaboration

Lynette Moore 1 collaboration

Jan E Liebelt 1 collaboration

Andreas W Schreiber 1 collaboration

Sarah L King-Smith 1 collaboration

Tristan S E Hardy 1 collaboration

Patrick H Hosie 1 collaboration

Carylyn Lim 1 collaboration

Timothy R D Scott 1 collaboration

Michelle A Farrar 1 collaboration

Catherine Frith 1 collaboration

Peter I Andrews 1 collaboration

Sekhar Pillai 1 collaboration

Pei Jin Lim 1 collaboration

Giulio Marcionelli 1 collaboration

Pakeerathan Srikanthan 1 collaboration

Timothée Ndarugendamwo 1 collaboration

Marianne Rohrbach 1 collaboration

Cecilia Giunta 1 collaboration

Samantha J Bryen 1 collaboration

Lisa J Ewans 1 collaboration

Suzanna C MacLennan 1 collaboration

Sandra Donkervoort 1 collaboration

Diana Castro 1 collaboration

Ana Töpf 1 collaboration

Gina O'Grady 1 collaboration

Beryl Cummings 1 collaboration

Katherine R Chao 1 collaboration

Ben Weisburd 1 collaboration

Laurent Francioli 1 collaboration

Fathimath Faiz 1 collaboration

Adam M Bournazos 1 collaboration

Ying Hu 1 collaboration

Carla Grosmann 1 collaboration

Denise M Malicki 1 collaboration

Helen Doyle 1 collaboration

Nanna Witting 1 collaboration

John Vissing 1 collaboration

Kristl G Claeys 1 collaboration

Kathryn Urankar 1 collaboration

Ana Beleza-Meireles 1 collaboration

Julia Baptista 1 collaboration

Sian Ellard 1 collaboration

Marco Savarese 1 collaboration

Mridul Johari 1 collaboration

Anna Vihola 1 collaboration

Bjarne Udd 1 collaboration

Anirban Majumdar 1 collaboration

Volker Straub 1 collaboration

Carsten G Bönnemann 1 collaboration

Daniel G MacArthur 1 collaboration

Mark R Davis 1 collaboration

Sandra T Cooper 1 collaboration

Helen Brown 1 collaboration

Jeffrey Braithwaite 1 collaboration

Diane Wind Wardell 1 collaboration

Cathy Rozmus 1 collaboration

Janet Pinner 1 collaboration

Theodore G Drivas 1 collaboration

Dong Li 1 collaboration

Divya Nair 1 collaboration

Joseph T Alaimo 1 collaboration

Mariëlle Alders 1 collaboration

Janine Altmüller 1 collaboration

Tahsin Stefan Barakat 1 collaboration

E Martina Bebin 1 collaboration

Nicole L Bertsch 1 collaboration

Patrick R Blackburn 1 collaboration

Alyssa Blesson 1 collaboration

Arjan M Bouman 1 collaboration

Knut Brockmann 1 collaboration

Perrine Brunelle 1 collaboration

Margit Burmeister 1 collaboration

Gregory M Cooper 1 collaboration

Jonas Denecke 1 collaboration

Anne Dieux-Coëslier 1 collaboration

Holly Dubbs 1 collaboration

Alejandro Ferrer 1 collaboration

Danna Gal 1 collaboration

Lauren E Bartik 1 collaboration

Lauren B Gunderson 1 collaboration

Linda Hasadsri 1 collaboration

Mahim Jain 1 collaboration

Catherine Karimov 1 collaboration

Beth Keena 1 collaboration

Eric W Klee 1 collaboration

Katja Kloth 1 collaboration

Baiba Lace 1 collaboration

Marina Macchiaiolo 1 collaboration

Julien L Marcadier 1 collaboration

Jeff M Milunsky 1 collaboration

Melanie P Napier 1 collaboration

Xilma R Ortiz-Gonzalez 1 collaboration

Pavel N Pichurin 1 collaboration

Zoe Powis 1 collaboration

Chitra Prasad 1 collaboration

Francesca Clementina Radio 1 collaboration

Kristen J Rasmussen 1 collaboration

Deborah L Renaud 1 collaboration

Eric T Rush 1 collaboration

Carol Saunders 1 collaboration

Duygu Selcen 1 collaboration

Ann R Seman 1 collaboration

Deepali N Shinde 1 collaboration

Erica D Smith 1 collaboration

Thomas Smol 1 collaboration

Lot Snijders Blok 1 collaboration

Joan M Stoler 1 collaboration

Sha Tang 1 collaboration

Marco Tartaglia 1 collaboration

Michelle L Thompson 1 collaboration

Jiddeke M van de Kamp 1 collaboration

Jingmin Wang 1 collaboration

Dagmar Weise 1 collaboration

Karin Weiss 1 collaboration

Rixa Woitschach 1 collaboration

Bernd Wollnik 1 collaboration

Huifang Yan 1 collaboration

Elaine H Zackai 1 collaboration

Giuseppe Zampino 1 collaboration

Philippe Campeau 1 collaboration

Elizabeth Bhoj 1 collaboration

Amy Nisselle 1 collaboration

Janet C Long 1 collaboration

Marcel E Dinger 1 collaboration

Clara L Gaff 1 collaboration

Anna Hau 1 collaboration

Anne Baxter 1 collaboration

Kate Chandler 1 collaboration

Peter M Krawitz 1 collaboration

Himanshu Goel 1 collaboration

R A M Taylor 1 collaboration

A Mackie 1 collaboration

R Mogra 1 collaboration

J Pinner 1 collaboration

S Rajendran 1 collaboration

G P Ross 1 collaboration

Cheng Y Chan 1 collaboration

Lucy Bowyer 1 collaboration

Caitlin Forwood 1 collaboration

Katie Ashton 1 collaboration

Futao Zhang 1 collaboration

Kerith-Rae Dias 1 collaboration

Krystle Standen 1 collaboration

Louise Carey 1 collaboration

Carolyn Shalhoub 1 collaboration

Hala Katf 1 collaboration

Carlos Riveros 1 collaboration

Peter Krawitz 1 collaboration

Peter N Robinson 1 collaboration

Tracy Dudding-Byth 1 collaboration

Bekim Sadikovic 1 collaboration

Karen L Oliver 1 collaboration

Marina Trivisano 1 collaboration

Simone A Mandelstam 1 collaboration

Angela De Dominicis 1 collaboration

David I Francis 1 collaboration

Timothy E Green 1 collaboration

Alison M Muir 1 collaboration

Apoorva Chowdhary 1 collaboration

Christoph Hertzberg 1 collaboration

Klaus Goldhahn 1 collaboration

Julia Metreau 1 collaboration

Christine Prager 1 collaboration

Kenneth A Myers 1 collaboration

Richard J Leventer 1 collaboration

Gaetan Lesca 1 collaboration

Melanie Bahlo 1 collaboration

Michael S Hildebrand 1 collaboration

Heather C Mefford 1 collaboration

Angela M Kaindl 1 collaboration

Nicola Specchio 1 collaboration

Ingrid E Scheffer 1 collaboration

David Francis 1 collaboration

Thuong Ha 1 collaboration

Song Gao 1 collaboration

Simone Rowley 1 collaboration

Ana Rakonjac 1 collaboration

Michelle Ward 1 collaboration

Kirsty Stallard 1 collaboration

Cas Simons 1 collaboration

Thomas Conway 1 collaboration

Andreas Halman 1 collaboration

Nicole J Van Bergen 1 collaboration

Tim Sikora 1 collaboration

Liana N Semcesen 1 collaboration

David A Stroud 1 collaboration

Katrina M Bell 1 collaboration

Kathryn N North 1 collaboration

Megan Ball 1 collaboration

Christopher B Barnett 1 collaboration