Gareth Baynam

Affiliations

Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA 6004, Australia; The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, WA 6004, Australia; School of Medicine, Division of Paediatrics and Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia. Electronic address: gareth.baynam@health.wa.gov.au.

Publications (84)

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

American journal of human genetics

Avec: Simon Easteal , Ruth M Arkell , Renzo F Balboa , Shayne A Bellingham , Alex D Brown , Tom Calma , Matthew C Cook , Megan Davis , Hugh J S Dawkins , Marcel E Dinger , Michael S Dobbie , Ashley Farlow , Kylie G Gwynne , Azure Hermes , Wendy E Hoy , Misty R Jenkins , Simon H Jiang , Warren Kaplan , Stephen Leslie , Bastien Llamas , Graham J Mann , Brendan J McMorran , Rebekah E McWhirter , Cliff J Meldrum , Shivashankar H Nagaraj , Saul J Newman , Jack S Nunn , Lyndon Ormond-Parker , Neil J Orr , Devashi Paliwal , Hardip R Patel , Glenn Pearson , Greg R Pratt , Boe Rambaldini , Lynette W Russell , Ravi Savarirayan , Matthew Silcocks , John C Skinner , Yassine Souilmi , Carola G Vinuesa , Auteur inconnu , Gareth Baynam

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

Journal of child neurology

Avec: Alastair H MacLennan , Sara Lewis , Andres Moreno-De-Luca , Michael Fahey , Richard J Leventer , Sarah McIntyre , Hilla Ben-Pazi , Mark Corbett , Xiaoyang Wang , Gareth Baynam , Darcy Fehlings , Manju A Kurian , Changlian Zhu , Kate Himmelmann , Hayley Smithers-Sheedy , Yana Wilson , Carlos Santos Ocaña , Clare van Eyk , Nadia Badawi , Richard F Wintle , Bo Jacobsson , David J Amor , Carina Mallard , Luis A Pérez-Jurado , Mikko Hallman , Peter J Rosenbaum , Michael C Kruer , Jozef Gecz

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Frontiers in molecular neuroscience

Avec: Raman Kumar , Elizabeth Palmer , Alison E Gardner , Renee Carroll , Siddharth Banka , Ola Abdelhadi , Dian Donnai , Ype Elgersma , Cynthia J Curry , Alice Gardham , Mohnish Suri , Rishikesh Malla , Lauren Ilana Brady , Mark Tarnopolsky , Dimitar N Azmanov , Vanessa Atkinson , Michael Black , Gareth Baynam , Lauren Dreyer , Robin Z Hayeems , Christian R Marshall , Gregory Costain , Marja W Wessels , Julia Baptista , James Drummond , Melanie Leffler , Michael Field , Jozef Gecz

A community-based co-designed genetic health service model for Aboriginal Australians.

PloS one

Avec: Imogen Elsum , Libby Massey , Callum McEwan , Desiree LaGrappe , Emma Kowal , Ravi Savarirayan , Gareth Baynam , Misty Jenkins , Gail Garvey , Margaret Kelaher

Paediatric genomic testing: Navigating genomic reports for the general paediatrician.

Journal of paediatrics and child health

Avec: Margit Shah , Arthavan Selvanathan , Gareth Baynam , Yemima Berman , Tiffany Boughtwood , Mary-Louise Freckmann , Gayathri Parasivam , Susan M White , Natalie Grainger , Edwin P Kirk , Alan Sl Ma , Rani Sachdev

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency.

Stem cell research & therapy

Avec: Vanessa S Fear , Catherine A Forbes , Denise Anderson , Sebastian Rauschert , Genevieve Syn , Nicole Shaw , Sarra Jamieson , Michelle Ward , Gareth Baynam , Timo Lassmann

Medical Comorbidities in

Children (Basel, Switzerland)

Avec: Daniel Ta , Jenny Downs , Gareth Baynam , Andrew Wilson , Peter Richmond , Helen Leonard

Further evidence for distinct traits associated with RBM10 missense variants.

Clinical genetics

Avec: Cathryn Poulton , Gareth Baynam , Kye Pugh , Michael Mason , Catherine Kiraly-Borri , Dylan Gration , Lauren Dreyer , Leon Viti , Mark Agostino , Julian Ik-Tsen Heng

Unlocking sociocultural and community factors for the global adoption of genomic medicine.

Orphanet journal of rare diseases

Avec: Lynsey Chediak , Nicola Bedlington , Ayesha Gadson , Alastair Kent , Aiedah Abdul Khalek , Luke Rosen , Malisa Rust , Mohd Farooq Shaikh , Meng Yoe Tan , Samuel Agyei Wiafe , Gareth Baynam , Charles A Steward

CRISPR/Cas9 generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.

HGG advances

Avec: Kathryn O Farley , Catherine A Forbes , Nicole C Shaw , Emma Kuzminski , Michelle Ward , Gareth Baynam , Timo Lassmann , Vanessa S Fear

Rare disease education in Europe and beyond: time to act.

Orphanet journal of rare diseases

Avec: Birute Tumiene , Harm Peters , Bela Melegh , Borut Peterlin , Algirdas Utkus , Natalja Fatkulina , György Pfliegler , Holm Graessner , Sanja Hermanns , Maurizio Scarpa , Jean-Yves Blay , Sharon Ashton , Lucy McKay , Gareth Baynam

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.

The Journal of pediatrics

Avec: Mohammed Junaid , Linda Slack-Smith , Kingsley Wong , Timothy Hewitt , Emma Glasson , Jenny Bourke , Gareth Baynam , Hanny Calache , Helen Leonard

Use of privacy-preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western Australia.

Pharmacoepidemiology and drug safety

Avec: Erin Kelty , Michele Hansen , Sean Randall , Dylan Gration , Gareth Baynam , David B Preen

FastHPOCR: Pragmatic, fast and accurate concept recognition using the Human Phenotype Ontology.

Bioinformatics (Oxford, England)

Avec: Tudor Groza , Dylan Gration , Gareth Baynam , Peter N Robinson

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.

Orphanet journal of rare diseases

Avec: Chiuhui Mary Wang , Amy Heagle Whiting , Ana Rath , Roberta Anido , Diego Ardigò , Gareth Baynam , Hugh Dawkins , Ada Hamosh , Yann Le Cam , Helen Malherbe , Caron M Molster , Lucia Monaco , Carmencita D Padilla , Anne R Pariser , Peter N Robinson , Charlotte Rodwell , Franz Schaefer , Stefanie Weber , Flaminia Macchia

Indigenous-led precision public health: a new starting point.

Frontiers in public health

Avec: Megan Fiona Baxter , Amanda Collins-Clinch , Kevin Doxzen , Yarlalu Thomas , Shahmir Rind , Vicki O'Donnell , Gareth Baynam

Consideration of a Legislative Framework to Support the Diagnostic Odyssey Commonly Encountered in the Instance of Rare Disease.

Journal of law and medicine

Avec: Marisa Taliangis , Gareth Baynam

The Undiagnosed Diseases Network International: Five years and more!

Molecular genetics and metabolism

Avec: D Taruscio , G Baynam , H Cederroth , S C Groft , E W Klee , K Kosaki , P Lasko , B Melegh , O Riess , M Salvatore , W A Gahl

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.

Gene

Avec: C Poulton , G Pathak , K Mina , T Lassman , D N Azmanov , E McCormack , S Broley , L Dreyer , D Gration , E Taylor , M OSullivan , A Siafarikis , M Ravikumara , H Dawkins , N Pachter , G Baynam

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Frontiers in genetics

Avec: Christoffer Nellåker , Fowzan S Alkuraya , Gareth Baynam , Raphael A Bernier , Francois P J Bernier , Vanessa Boulanger , Michael Brudno , Han G Brunner , Jill Clayton-Smith , Benjamin Cogné , Hugh J S Dawkins , Bert B A deVries , Sofia Douzgou , Tracy Dudding-Byth , Evan E Eichler , Michael Ferlaino , Karen Fieggen , Helen V Firth , David R FitzPatrick , Dylan Gration , Tudor Groza , Melissa Haendel , Nina Hallowell , Ada Hamosh , Jayne Hehir-Kwa , Marc-Phillip Hitz , Mark Hughes , Usha Kini , Tjitske Kleefstra , R Frank Kooy , Peter Krawitz , Sébastien Küry , Melissa Lees , Gholson J Lyon , Stanislas Lyonnet , Julien L Marcadier , Stephen Meyn , Veronika Moslerová , Juan M Politei , Cathryn C Poulton , F Lucy Raymond , Margot R F Reijnders , Peter N Robinson , Corrado Romano , Catherine M Rose , David C G Sainsbury , Lyn Schofield , Vernon R Sutton , Marek Turnovec , Anke Van Dijck , Hilde Van Esch , Andrew O M Wilkie , Auteur inconnu

Optimizing Precision Medicine for Public Health.

Frontiers in public health

Avec: Gemma A Bilkey , Belinda L Burns , Emily P Coles , Trinity Mahede , Gareth Baynam , Kristen J Nowak

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Human mutation

Avec: Hanyin Cheng , Simona Capponi , Emma Wakeling , Elaine Marchi , Quan Li , Mengge Zhao , Chunhua Weng , Piatek G Stefan , Helena Ahlfors , Robert Kleyner , Alan Rope , Aimé Lumaka , Prosper Lukusa , Koenraad Devriendt , Joris Vermeesch , Jennifer E Posey , Elizabeth E Palmer , Lucinda Murray , Eyby Leon , Jullianne Diaz , Lisa Worgan , Amalia Mallawaarachchi , Julie Vogt , Sonja A de Munnik , Lauren Dreyer , Gareth Baynam , Lisa Ewans , Zornitza Stark , Sebastian Lunke , Ana R Gonçalves , Gabriela Soares , Jorge Oliveira , Emily Fassi , Marcia Willing , Jeff L Waugh , Laurence Faivre , Jean-Baptiste Riviere , Sebastien Moutton , Shehla Mohammed , Katelyn Payne , Laurence Walsh , Amber Begtrup , Maria J Guillen Sacoto , Ganka Douglas , Nora Alexander , Michael F Buckley , Paul R Mark , Lesley C Adès , Sarah A Sandaradura , James R Lupski , Tony Roscioli , Pankaj B Agrawal , Antonie D Kline , Auteur inconnu , Kai Wang , H T Marc Timmers , Gholson J Lyon

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

HGG advances

Avec: Michael A Levy , Haley McConkey , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Robin S Fletcher , Florian Cherik , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie Ruiz Pallares , Maria Piccione , Simone Pizzi , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Raissa Relator , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella Maria Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Kristin D Kerrnohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

The Human Phenotype Ontology in 2021.

Nucleic acids research

Avec: Sebastian Köhler , Michael Gargano , Nicolas Matentzoglu , Leigh C Carmody , David Lewis-Smith , Nicole A Vasilevsky , Daniel Danis , Ganna Balagura , Gareth Baynam , Amy M Brower , Tiffany J Callahan , Christopher G Chute , Johanna L Est , Peter D Galer , Shiva Ganesan , Matthias Griese , Matthias Haimel , Julia Pazmandi , Marc Hanauer , Nomi L Harris , Michael J Hartnett , Maximilian Hastreiter , Fabian Hauck , Yongqun He , Tim Jeske , Hugh Kearney , Gerhard Kindle , Christoph Klein , Katrin Knoflach , Roland Krause , David Lagorce , Julie A McMurry , Jillian A Miller , Monica C Munoz-Torres , Rebecca L Peters , Christina K Rapp , Ana M Rath , Shahmir A Rind , Avi Z Rosenberg , Michael M Segal , Markus G Seidel , Damian Smedley , Tomer Talmy , Yarlalu Thomas , Samuel A Wiafe , Julie Xian , Zafer Yüksel , Ingo Helbig , Christopher J Mungall , Melissa A Haendel , Peter N Robinson

Microcephaly in Australian children, 2016-2018: national surveillance study.

Archives of disease in childhood

Avec: Carlos Nunez , Anne Morris , Cheryl A Jones , Nadia Badawi , Gareth Baynam , Michele Hansen , Elizabeth J Elliott

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.

Frontiers in pediatrics

Avec: Carla S D'Angelo , Azure Hermes , Christopher R McMaster , Elissa Prichep , Étienne Richer , Francois H van der Westhuizen , Gabriela M Repetto , Gong Mengchun , Helen Malherbe , Juergen K V Reichardt , Laura Arbour , Maui Hudson , Kelly du Plessis , Melissa Haendel , Phillip Wilcox , Sally Ann Lynch , Shamir Rind , Simon Easteal , Xavier Estivill , Yarlalu Thomas , Gareth Baynam

Deletion of

Cold Spring Harbor molecular case studies

Avec: Ram Singh , Ana S A Cohen , Cathryn Poulton , Tina Duelund Hjortshøj , Moe Akahira-Azuma , Geetu Mendiratta , Wahab A Khan , Dimitar N Azmanov , Karen J Woodward , Maria Kirchhoff , Lisong Shi , Lisa Edelmann , Gareth Baynam , Stuart A Scott , Ethylin Wang Jabs

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.

Frontiers in public health

Avec: Savino Sciascia , Dario Roccatello , Marco Salvatore , Claudio Carta , Laura L Cellai , Gianluca Ferrari , Aimè Lumaka , Stephen Groft , Yasemin Alanay , Maleeha Azam , Gareth Baynam , Helene Cederroth , Eva Maria Cutiongco-de la Paz , Vajira Harshadeva Weerabaddana Dissanayake , Roberto Giugliani , Claudia Gonzaga-Jauregui , Dineshani Hettiarachchi , Oleg Kvlividze , Guida Landoure , Prince Makay , Béla Melegh , Ugur Ozbek , Ratna Dua Puri , Vanessa I Romero , Vinod Scaria , Saumya S Jamuar , Vorasuk Shotelersuk , William A Gahl , Samuel A Wiafe , Olaf Bodamer , Manuel Posada , Domenica Taruscio

Surfacing undiagnosed disease: consideration, counting and coding.

Frontiers in pediatrics

Avec: Megan F Baxter , Michele Hansen , Dylan Gration , Tudor Groza , Gareth Baynam

Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials.

Pharmaceutical medicine

Avec: Gareth Baynam , Simeón Baker , Charles Steward , Marshall Summar , Meghan Halley , Anne Pariser

Global health for rare diseases through primary care.

The Lancet. Global health

Avec: Gareth Baynam , Adam L Hartman , Mary Catherine V Letinturier , Matt Bolz-Johnson , Prescilla Carrion , Alice Chen Grady , Xinran Dong , Marc Dooms , Lauren Dreyer , Holm Graessner , Alicia Granados , Tudor Groza , Elisa Houwink , Saumya Shekhar Jamuar , Tania Vasquez-Loarte , Biruté Tumiene , Samuel Agyei Wiafe , Heidi Bjornson-Pennell , Stephen Groft

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges.

Frontiers in public health

Avec: Gemma A Bilkey , Belinda L Burns , Emily P Coles , Faye L Bowman , John P Beilby , Nicholas S Pachter , Gareth Baynam , Hugh J S Dawkins , Kristen J Nowak , Tarun S Weeramanthri

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.

Frontiers in public health

Avec: Belinda L Burns , Gemma A Bilkey , Emily P Coles , Faye L Bowman , John P Beilby , Nicholas S Pachter , Gareth Baynam , Hugh J S Dawkins , Tarun S Weeramanthri , Kristen J Nowak

Defining and expanding the phenotype of

Neurology. Genetics

Avec: Katrine M Johannesen , Diana Mitter , Robert Janowski , Christian Roth , Joseph Toulouse , Anne-Lise Poulat , Dorothee M Ville , Nicolas Chatron , Eva Brilstra , Karin Geleijns , Alfred Peter Born , Scott McLean , Kimberly Nugent , Gareth Baynam , Cathryn Poulton , Lauren Dreyer , Dylan Gration , Solveig Schulz , Andrea Dieckmann , Katherine L Helbig , Andreas Merkenschlager , Rami Jamra , Anja Finck , Elena Gardella , Helle Hjalgrim , Ghayda Mirzaa , Francesco Brancati , Tatjana Bierhals , Jonas Denecke , Maja Hempel , Johannes R Lemke , Guido Rubboli , Petra Muschke , Renzo Guerrini , Annalisa Vetro , Dierk Niessing , Gaetan Lesca , Rikke S Møller

SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program.

Frontiers in pediatrics

Avec: Georgia J Hay , Florian E Klonek , Cati S Thomas , Alicia Bauskis , Gareth Baynam , Sharon K Parker

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Avec: Eleonora Di Zanni , Eleonora Palagano , Laura Lagostena , Dario Strina , Asma Rehman , Mario Abinun , Lien De Somer , Baldassarre Martire , Justin Brown , Ariana Kariminejad , Shanti Balasubramaniam , Gareth Baynam , Fiorella Gurrieri , Maria A Pisanti , Ilaria De Maggio , Miguel R Abboud , Robert Chiesa , Christine P Burren , Anna Villa , Cristina Sobacchi , Alessandra Picollo

The case for open science: rare diseases.

JAMIA open

Avec: Yaffa R Rubinstein , Peter N Robinson , William A Gahl , Paul Avillach , Gareth Baynam , Helene Cederroth , Rebecca M Goodwin , Stephen C Groft , Mats G Hansson , Nomi L Harris , Vojtech Huser , Deborah Mascalzoni , Julie A McMurry , Matthew Might , Christoffer Nellaker , Barend Mons , Dina N Paltoo , Jonathan Pevsner , Manuel Posada , Alison P Rockett-Frase , Marco Roos , Tamar B Rubinstein , Domenica Taruscio , Esther van Enckevort , Melissa A Haendel

Ethics and equity in rare disease research and healthcare.

Personalized medicine

Avec: Maria Koromina , Vasileios Fanaras , Gareth Baynam , Christina Mitropoulou , George P Patrinos

Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study.

The Journal of pediatrics

Avec: Mohammed Junaid , Linda Slack-Smith , Kingsley Wong , Jenny Bourke , Gareth Baynam , Hanny Calache , Helen Leonard

Common data elements to standardize genomics studies in cerebral palsy.

Developmental medicine and child neurology

Avec: Yana A Wilson , Hayley Smithers-Sheedy , Katarina Ostojic , Emma Waight , Michael C Kruer , Michael C Fahey , Auteur inconnu , Gareth Baynam , Jozef Gécz , Nadia Badawi , Sarah McIntyre

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.

Orphanet journal of rare diseases

Avec: Daniel Ta , Jenny Downs , Gareth Baynam , Andrew Wilson , Peter Richmond , Helen Leonard

An evaluation of GPT models for phenotype concept recognition.

BMC medical informatics and decision making

Avec: Tudor Groza , Harry Caufield , Dylan Gration , Gareth Baynam , Melissa A Haendel , Peter N Robinson , Christopher J Mungall , Justin T Reese

Refining nosology by modelling variation among facial phenotypes: the RASopathies.

Journal of medical genetics

Avec: Harold Matthews , Michiel Vanneste , Kaitlin Katsura , David Aponte , Michael Patton , Peter Hammond , Gareth Baynam , Richard Spritz , Ophir D Klein , Benedikt Hallgrimsson , Hilde Peeters , Peter Claes

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.

Nature communications

Avec: Joanne Luke , Philippa Dalach , Lindsay Tuer , Ravi Savarirayan , Angeline Ferdinand , Julie McGaughran , Emma Kowal , Libby Massey , Gail Garvey , Hugh Dawkins , Misty Jenkins , Yin Paradies , Glenn Pearson , Chloe A Stutterd , Gareth Baynam , Margaret Kelaher

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.

Frontiers in public health

Avec: Domenica Taruscio , Marco Salvatore , Aimè Lumaka , Claudio Carta , Laura L Cellai , Gianluca Ferrari , Savino Sciascia , Stephen Groft , Yasemin Alanay , Maleeha Azam , Gareth Baynam , Helene Cederroth , Eva Maria Cutiongco-de la Paz , Vajira Harshadeva Weerabaddana Dissanayake , Roberto Giugliani , Claudia Gonzaga-Jauregui , Dineshani Hettiarachchi , Oleg Kvlividze , Guida Landoure , Prince Makay , Béla Melegh , Ugur Ozbek , Ratna Dua Puri , Vanessa Romero , Vinod Scaria , Saumya S Jamuar , Vorasuk Shotelersuk , Dario Roccatello , William A Gahl , Samuel A Wiafe , Olaf Bodamer , Manuel Posada

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

American journal of medical genetics. Part A

Avec: Maninder Kaur , Justin Blair , Batsal Devkota , Sierra Fortunato , Dinah Clark , Audrey Lawrence , Jiwoo Kim , Wonwook Do , Benjamin Semeo , Olivia Katz , Devanshi Mehta , Nobuko Yamamoto , Emma Schindler , Zayd Al Rawi , Nina Wallace , Jonathan J Wilde , Jennifer McCallum , Jinglan Liu , Dongbin Xu , Marie Jackson , Stefan Rentas , Ahmad Abou Tayoun , Zhang Zhe , Omar Abdul-Rahman , Bill Allen , Moris A Angula , Kwame Anyane-Yeboa , Jesús Argente , Pamela H Arn , Linlea Armstrong , Lina Basel-Salmon , Gareth Baynam , Lynne M Bird , Daniel Bruegger , Gaik-Siew Ch'ng , David Chitayat , Robin Clark , Gerald F Cox , Usha Dave , Elfrede DeBaere , Michael Field , John M Graham , Karen W Gripp , Robert Greenstein , Neerja Gupta , Randy Heidenreich , Jodi Hoffman , Robert J Hopkin , Kenneth L Jones , Marilyn C Jones , Ariana Kariminejad , Jillene Kogan , Baiba Lace , Julian Leroy , Sally Ann Lynch , Marie McDonald , Kirsten Meagher , Nancy Mendelsohn , Ieva Micule , John Moeschler , Sheela Nampoothiri , Kaoru Ohashi , Cynthia M Powell , Subhadra Ramanathan , Salmo Raskin , Elizabeth Roeder , Marlene Rio , Alan F Rope , Karan Sangha , Angela E Scheuerle , Adele Schneider , Stavit Shalev , Victoria Siu , Rosemarie Smith , Cathy Stevens , Tinatin Tkemaladze , John Toimie , Helga Toriello , Anne Turner , Patricia G Wheeler , Susan M White , Terri Young , Kathleen M Loomes , Mary Pipan , Ann Tokay Harrington , Elaine Zackai , Ramakrishnan Rajagopalan , Laura Conlin , Matthew A Deardorff , Deborah McEldrew , Juan Pie , Feliciano Ramos , Antonio Musio , Antonie D Kline , Kosuke Izumi , Sarah E Raible , Ian D Krantz

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Journal of child neurology

Avec: Yana A Wilson , Natasha Garrity , Hayley Smithers-Sheedy , Shona Goldsmith , Tasneem Karim , Georgina Henry , Simon Paget , Maria Kyriagis , Nadia Badawi , Gareth Baynam , Jozef Gecz , Sarah McIntyre

Culturally competent communication in Indigenous disability assessment: a qualitative study.

International journal for equity in health

Avec: Angeline Ferdinand , Libby Massey , Jennifer Cullen , Jeromey Temple , Kristy Meiselbach , Yin Paradies , Gareth Baynam , Ravi Savarirayan , Margaret Kelaher

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs.

Birth defects research

Avec: Jane C Bell , Gareth Baynam , Jorieke E H Bergman , Eva Bermejo-Sánchez , Lorenzo D Botto , Mark A Canfield , Saeed Dastgiri , Miriam Gatt , Boris Groisman , Paula Hurtado-Villa , Karin Kallen , Babak Khoshnood , Victoria Konrad , Danielle Landau , Jorge S Lopez-Camelo , Laura Martinez , Margery Morgan , Osvaldo M Mutchinick , Amy E Nance , Wendy Nembhard , Anna Pierini , Anke Rissmann , Xiaoyi Shan , Antonin Sipek , Elena Szabova , Giovanna Tagliabue , Lyubov S Yevtushok , Ignacio Zarante , Natasha Nassar

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

Clinical genetics

Avec: Fiona McKenzie , Kym Mina , Bert Callewaert , Aude Beyens , Jan E Dickinson , Gareth Jevon , John Papadimitriou , Birgitte Rode Diness , Jesper Norman Steensberg , Jakob Ek , Gareth Baynam

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Cell

Avec: Kym M Boycott , Taila Hartley , Leslie G Biesecker , Richard A Gibbs , A Micheil Innes , Olaf Riess , John Belmont , Sally L Dunwoodie , Nebojsa Jojic , Timo Lassmann , Deborah Mackay , I Karen Temple , Axel Visel , Gareth Baynam

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.

Molecular genetics & genomic medicine

Avec: Karen J Woodward , Julie Stampalia , Hannah Vanyai , Hashika Rijhumal , Kim Potts , Fiona Taylor , Joanne Peverall , Tanya Grumball , Soruba Sivamoorthy , Hamid Alinejad-Rokny , John Wray , Andrew Whitehouse , Lakshmi Nagarajan , Jacqueline Scurlock , Sabine Afchani , Matthew Edwards , Ashleigh Murch , John Beilby , Gareth Baynam , Cathy Kiraly-Borri , Fiona McKenzie , Julian I T Heng

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic acids research

Avec: Sebastian Köhler , Leigh Carmody , Nicole Vasilevsky , Julius O B Jacobsen , Daniel Danis , Jean-Philippe Gourdine , Michael Gargano , Nomi L Harris , Nicolas Matentzoglu , Julie A McMurry , David Osumi-Sutherland , Valentina Cipriani , James P Balhoff , Tom Conlin , Hannah Blau , Gareth Baynam , Richard Palmer , Dylan Gratian , Hugh Dawkins , Michael Segal , Anna C Jansen , Ahmed Muaz , Willie H Chang , Jenna Bergerson , Stanley J F Laulederkind , Zafer Yüksel , Sergi Beltran , Alexandra F Freeman , Panagiotis I Sergouniotis , Daniel Durkin , Andrea L Storm , Marc Hanauer , Michael Brudno , Susan M Bello , Murat Sincan , Kayli Rageth , Matthew T Wheeler , Renske Oegema , Halima Lourghi , Maria G Della Rocca , Rachel Thompson , Francisco Castellanos , James Priest , Charlotte Cunningham-Rundles , Ayushi Hegde , Ruth C Lovering , Catherine Hajek , Annie Olry , Luigi Notarangelo , Morgan Similuk , Xingmin A Zhang , David Gómez-Andrés , Hanns Lochmüller , Hélène Dollfus , Sergio Rosenzweig , Shruti Marwaha , Ana Rath , Kathleen Sullivan , Cynthia Smith , Joshua D Milner , Dorothée Leroux , Cornelius F Boerkoel , Amy Klion , Melody C Carter , Tudor Groza , Damian Smedley , Melissa A Haendel , Chris Mungall , Peter N Robinson

Personalised analytics for rare disease diagnostics.

Nature communications

Avec: Denise Anderson , Gareth Baynam , Jenefer M Blackwell , Timo Lassmann

Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Avec: Mohammed Junaid , Linda Slack-Smith , Kingsley Wong , Gareth Baynam , Hanny Calache , Timothy Hewitt , Helen Leonard

People with Cerebral Palsy and Their Family's Preferences about Genomics Research.

Public health genomics

Avec: Yana Alexandra Wilson , Sarah McIntyre , Emma Waight , Marelle Thornton , Saskia van Otterloo , Sophie Rachel Marmont , Michael Kruer , Gareth Baynam , Jozef Gecz , Nadia Badawi

Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study.

Pediatric research

Avec: Mohammed Junaid , Linda Slack-Smith , Kingsley Wong , Jenny Bourke , Gareth Baynam , Hanny Calache , Helen Leonard

Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.

Scientific reports

Avec: Daniel Moynihan , Sean Monaco , Teck Wah Ting , Kaavya Narasimhalu , Jenny Hsieh , Sylvia Kam , Jiin Ying Lim , Weng Khong Lim , Sonia Davila , Yasmin Bylstra , Iswaree Devi Balakrishnan , Mark Heng , Elian Chia , Khung Keong Yeo , Bee Keow Goh , Ritu Gupta , Tele Tan , Gareth Baynam , Saumya Shekhar Jamuar

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Human mutation

Avec: Michael A Levy , Raissa Relator , Haley McConkey , Erinija Pranckeviciene , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Marco Ferilli , Robin S Fletcher , Florian Cherick , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie R Pallares , Maria Piccione , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella M Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce B Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , Dominique Campion , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Delphine Heron , Thomas Husson , Kristin D Kernohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Marie Vincent , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

Stigma associated with genetic testing for rare diseases-causes and recommendations.

Frontiers in genetics

Avec: Gareth Baynam , Roy Gomez , Ritu Jain

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.

AJNR. American journal of neuroradiology

Avec: B J Halliday , G Baynam , L Ewans , L Greenhalgh , R J Leventer , D T Pilz , R Sachdev , I E Scheffer , D M Markie , G McGillivray , S P Robertson , S Mandelstam

Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study.

European journal of pediatrics

Avec: Mohammed Junaid , Linda Slack-Smith , Kingsley Wong , Timothy Hewitt , Jenny Bourke , Gareth Baynam , Hanny Calache , Helen Leonard

The landscape of genomic structural variation in Indigenous Australians.

Nature

Avec: Andre L M Reis , Melissa Rapadas , Jillian M Hammond , Hasindu Gamaarachchi , Igor Stevanovski , Meutia Ayuputeri Kumaheri , Sanjog R Chintalaphani , Duminda S B Dissanayake , Owen M Siggs , Alex W Hewitt , Bastien Llamas , Alex Brown , Gareth Baynam , Graham J Mann , Brendan J McMorran , Simon Easteal , Azure Hermes , Misty R Jenkins , Auteur inconnu , Hardip R Patel , Ira W Deveson

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.

Orphanet journal of rare diseases

Avec: Clara D M van Karnebeek , Anne O'Donnell-Luria , Gareth Baynam , Anaïs Baudot , Tudor Groza , Judith J M Jans , Timo Lassmann , Mary Catherine V Letinturier , Stephen B Montgomery , Peter N Robinson , Stefaan Sansen , Ruty Mehrian-Shai , Charles Steward , Kenjiro Kosaki , Patricia Durao , Bekim Sadikovic

Telehealth for Rare Disease Care, Research, and Education Across the Globe: A Review of the Literature by the IRDiRC Telehealth Task Force.

European journal of medical genetics

Avec: Faye H Chen , Adam L Hartman , Mary Catherine V Letinturier , Victoria Antoniadou , Gareth Baynam , Lara Bloom , Marco Crimi , Maria G Della Rocca , Giuseppe Didato , Sofia Douzgou Houge , Anneliene Jonker , Martina Kawome , Friederike Mueller , James O'Brien , Ratna Dua Puri , Nuala Ryan , Meow-Keong Thong , Birutė Tumienė , Melissa A Parisi

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010.

European urology

Avec: Xiao Yu , Natasha Nassar , Pierpaolo Mastroiacovo , Mark Canfield , Boris Groisman , Eva Bermejo-Sánchez , Annukka Ritvanen , Sonja Kiuru-Kuhlefelt , Adriana Benavides , Antonin Sipek , Anna Pierini , Fabrizio Bianchi , Karin Källén , Miriam Gatt , Margery Morgan , David Tucker , M Aaurora Canessa , Rosa Gajardo , Osvaldo M Mutchinick , Elena Szabova , Melinda Csáky-Szunyogh , Giovanna Tagliabue , Janet D Cragan , Wendy N Nembhard , Anke Rissmann , Dorit Goetz , Carol Bower , Gareth Baynam , R Brian Lowry , Juan A Leon , Wei Luo , Jocelyn Rouleau , Ignacio Zarante , Nicolas Fernandez , Emmanuelle Amar , Saeed Dastgiri , Paolo Contiero , Laura E Martínez-de-Villarreal , Barry Borman , J E H Bergman , Hermien E K de Walle , Charlotte A Hobbs , Amy E Nance , A J Agopian

Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.

Pediatric dermatology

Avec: Cathryn Poulton , Dylan Gration , Kevin Murray , Gareth Baynam , Anne Halbert

"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.

International journal for equity in health

Avec: Philippa Dalach , Ravi Savarirayan , Gareth Baynam , Julie McGaughran , Emma Kowal , Libby Massey , Misty Jenkins , Yin Paradies , Margaret Kelaher

Fatal perinatal mitochondrial cardiac failure caused by recurrent

Med (New York, N.Y.)

Avec: Ann E Frazier , Alison G Compton , Yoshihito Kishita , Daniella H Hock , AnneMarie E Welch , Sumudu S C Amarasekera , Rocio Rius , Luke E Formosa , Atsuko Imai-Okazaki , David Francis , Min Wang , Nicole J Lake , Simone Tregoning , Jafar S Jabbari , Alexis Lucattini , Kazuhiro R Nitta , Akira Ohtake , Kei Murayama , David J Amor , George McGillivray , Flora Y Wong , Marjo S van der Knaap , R Jeroen Vermeulen , Esko J Wiltshire , Janice M Fletcher , Barry Lewis , Gareth Baynam , Carolyn Ellaway , Shanti Balasubramaniam , Kaustuv Bhattacharya , Mary-Louise Freckmann , Susan Arbuckle , Michael Rodriguez , Ryan J Taft , Simon Sadedin , Mark J Cowley , André E Minoche , Sarah E Calvo , Vamsi K Mootha , Michael T Ryan , Yasushi Okazaki , David A Stroud , Cas Simons , John Christodoulou , David R Thorburn

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genome medicine

Avec: Ilaria Mannucci , Nghi D P Dang , Hannes Huber , Jaclyn B Murry , Jeff Abramson , Thorsten Althoff , Siddharth Banka , Gareth Baynam , David Bearden , Ana Beleza-Meireles , Paul J Benke , Siren Berland , Tatjana Bierhals , Frederic Bilan , Laurence A Bindoff , Geir Julius Braathen , Øyvind L Busk , Jirat Chenbhanich , Jonas Denecke , Luis F Escobar , Caroline Estes , Julie Fleischer , Daniel Groepper , Charlotte A Haaxma , Maja Hempel , Yolanda Holler-Managan , Gunnar Houge , Adam Jackson , Laura Kellogg , Boris Keren , Catherine Kiraly-Borri , Cornelia Kraus , Christian Kubisch , Gwenael Le Guyader , Ulf W Ljungblad , Leslie Manace Brenman , Julian A Martinez-Agosto , Matthew Might , David T Miller , Kelly Q Minks , Billur Moghaddam , Caroline Nava , Stanley F Nelson , John M Parant , Trine Prescott , Farrah Rajabi , Hanitra Randrianaivo , Simone F Reiter , Janneke Schuurs-Hoeijmakers , Perry B Shieh , Anne Slavotinek , Sarah Smithson , Alexander P A Stegmann , Kinga Tomczak , Kristian Tveten , Jun Wang , Jordan H Whitlock , Christiane Zweier , Kirsty McWalter , Jane Juusola , Fabiola Quintero-Rivera , Utz Fischer , Nan Cher Yeo , Hans-Jürgen Kreienkamp , Davor Lessel

Childhood rare diseases and the UN convention on the rights of the child.

Orphanet journal of rare diseases

Avec: Lisa Matthews , Vaughan Chin , Marisa Taliangis , Amanda Samanek , Gareth Baynam

mEDUrare: Supporting Integrated Care for Rare Diseases by Better Connecting Health and Education Through Policy.

The Yale journal of biology and medicine

Avec: Harleen Saggu , Caleb Jones , Amber Lewis , Gareth Baynam

Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Avec: Mohammed Junaid , Linda Slack-Smith , Kingsley Wong , Gareth Baynam , Hanny Calache , Timothy Hewitt , Helen Leonard

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study.

Gene

Avec: Vanessa S Fear , Catherine A Forbes , Denise Anderson , Sebastian Rauschert , Genevieve Syn , Nicole Shaw , Matthew E Jones , Alistair Rr Forrest , Gareth Baynam , Timo Lassmann

Development of an International Database for a Rare Genetic Disorder: The

Children (Basel, Switzerland)

Avec: Daniel Ta , Jenny Downs , Gareth Baynam , Andrew Wilson , Peter Richmond , Aron Schmidt , Amelia Decker , Helen Leonard

3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.

PLOS digital health

Avec: Saumya Jamuar , Richard Palmer , Hugh Dawkins , Dae-Wook Lee , Petra Helmholz , Gareth Baynam

Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study.

Paediatric and perinatal epidemiology

Avec: Cassandra MacArthur , Michele Hansen , Gareth Baynam , Carol Bower , Erin Kelty

Prevalence and trends for Aboriginal and Torres Strait Islander children living with cerebral palsy: A birds-eye view.

Developmental medicine and child neurology

Avec: Tanya Martin , Sarah McIntyre , Emma Waight , Gareth Baynam , Linda Watson , Katherine Langdon , Susan Woolfenden , Hayley Smithers-Sheedy , Juanita Sherwood , Auteur inconnu

The psychosocial impact of childhood dementia on children and their parents: a systematic review.

Orphanet journal of rare diseases

Avec: Suzanne M Nevin , Brittany C McGill , Lauren Kelada , Gail Hilton , Megan Maack , Kristina L Elvidge , Michelle A Farrar , Gareth Baynam , Naomi T Katz , Leigh Donovan , Sarah Grattan , Christina Signorelli , Kaustuv Bhattacharya , Kenneth Nunn , Claire E Wakefield

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease.

Stem cell research & therapy

Avec: Vanessa S Fear , Catherine A Forbes , Nicole C Shaw , Kathryn O Farley , Jessica L Mantegna , Jasmin P Htun , Genevieve Syn , Helena Viola , Henrietta Cserne Szappanos , Livia Hool , Michelle Ward , Gareth Baynam , Timo Lassmann

Indigenous Australian genomes show deep structure and rich novel variation.

Nature

Avec: Matthew Silcocks , Ashley Farlow , Azure Hermes , Georgia Tsambos , Hardip R Patel , Sharon Huebner , Gareth Baynam , Misty R Jenkins , Damjan Vukcevic , Simon Easteal , Stephen Leslie , Auteur inconnu

The Human Phenotype Ontology in 2024: phenotypes around the world.

Nucleic acids research

Avec: Michael A Gargano , Nicolas Matentzoglu , Ben Coleman , Eunice B Addo-Lartey , Anna V Anagnostopoulos , Joel Anderton , Paul Avillach , Anita M Bagley , Eduard Bakštein , James P Balhoff , Gareth Baynam , Susan M Bello , Michael Berk , Holli Bertram , Somer Bishop , Hannah Blau , David F Bodenstein , Pablo Botas , Kaan Boztug , Jolana Čady , Tiffany J Callahan , Rhiannon Cameron , Seth J Carbon , Francisco Castellanos , J Harry Caufield , Lauren E Chan , Christopher G Chute , Jaime Cruz-Rojo , Noémi Dahan-Oliel , Jon R Davids , Maud de Dieuleveult , Vinicius de Souza , Bert B A de Vries , Esther de Vries , J Raymond DePaulo , Beata Derfalvi , Ferdinand Dhombres , Claudia Diaz-Byrd , Alexander J M Dingemans , Bruno Donadille , Michael Duyzend , Reem Elfeky , Shahim Essaid , Carolina Fabrizzi , Giovanna Fico , Helen V Firth , Yun Freudenberg-Hua , Janice M Fullerton , Davera L Gabriel , Kimberly Gilmour , Jessica Giordano , Fernando S Goes , Rachel Gore Moses , Ian Green , Matthias Griese , Tudor Groza , Weihong Gu , Julia Guthrie , Benjamin Gyori , Ada Hamosh , Marc Hanauer , Kateřina Hanušová , Yongqun Oliver He , Harshad Hegde , Ingo Helbig , Kateřina Holasová , Charles Tapley Hoyt , Shangzhi Huang , Eric Hurwitz , Julius O B Jacobsen , Xiaofeng Jiang , Lisa Joseph , Kamyar Keramatian , Bryan King , Katrin Knoflach , David A Koolen , Megan L Kraus , Carlo Kroll , Maaike Kusters , Markus S Ladewig , David Lagorce , Meng-Chuan Lai , Pablo Lapunzina , Bryan Laraway , David Lewis-Smith , Xiarong Li , Caterina Lucano , Marzieh Majd , Mary L Marazita , Victor Martinez-Glez , Toby H McHenry , Melvin G McInnis , Julie A McMurry , Michaela Mihulová , Caitlin E Millett , Philip B Mitchell , Veronika Moslerová , Kenji Narutomi , Shahrzad Nematollahi , Julian Nevado , Andrew A Nierenberg , Nikola Novák Čajbiková , John I Nurnberger , Soichi Ogishima , Daniel Olson , Abigail Ortiz , Harry Pachajoa , Guiomar Perez de Nanclares , Amy Peters , Tim Putman , Christina K Rapp , Ana Rath , Justin Reese , Lauren Rekerle , Angharad M Roberts , Suzy Roy , Stephan J Sanders , Catharina Schuetz , Eva C Schulte , Thomas G Schulze , Martin Schwarz , Katie Scott , Dominik Seelow , Berthold Seitz , Yiping Shen , Morgan N Similuk , Eric S Simon , Balwinder Singh , Damian Smedley , Cynthia L Smith , Jake T Smolinsky , Sarah Sperry , Elizabeth Stafford , Ray Stefancsik , Robin Steinhaus , Rebecca Strawbridge , Jagadish Chandrabose Sundaramurthi , Polina Talapova , Jair A Tenorio Castano , Pavel Tesner , Rhys H Thomas , Audrey Thurm , Marek Turnovec , Marielle E van Gijn , Nicole A Vasilevsky , Markéta Vlčková , Anita Walden , Kai Wang , Ron Wapner , James S Ware , Addo A Wiafe , Samuel A Wiafe , Lisa D Wiggins , Andrew E Williams , Chen Wu , Margot J Wyrwoll , Hui Xiong , Nefize Yalin , Yasunori Yamamoto , Lakshmi N Yatham , Anastasia K Yocum , Allan H Young , Zafer Yüksel , Peter P Zandi , Andreas Zankl , Ignacio Zarante , Miroslav Zvolský , Sabrina Toro , Leigh C Carmody , Nomi L Harris , Monica C Munoz-Torres , Daniel Danis , Christopher J Mungall , Sebastian Köhler , Melissa A Haendel , Peter N Robinson

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Nature communications

Avec: Rudrarup Bhattacharjee , Lachlan A Jolly , Mark A Corbett , Ing Chee Wee , Sushma R Rao , Alison E Gardner , Tarin Ritchie , Eline J H van Hugte , Ummi Ciptasari , Sandra Piltz , Jacqueline E Noll , Nazzmer Nazri , Clare L van Eyk , Melissa White , Dani Fornarino , Cathryn Poulton , Gareth Baynam , Lyndsey E Collins-Praino , Marten F Snel , Nael Nadif Kasri , Kim M Hemsley , Paul Q Thomas , Raman Kumar , Jozef Gecz

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Molecular autism

Avec: Nicole C Shaw , Kevin Chen , Kathryn O Farley , Mitchell Hedges , Catherine Forbes , Gareth Baynam , Timo Lassmann , Vanessa S Fear

Réseau de co-auteurs

Helen Leonard 9 collaborations

Peter N Robinson 9 collaborations

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None None 7 collaborations

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Ashley Farlow 2 collaborations

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