Susan White

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

Goekhan Yigit, Ken Saida, Danielle DeMarzo, Noriko Miyake, Atsushi Fujita, Tiong Yang Tan, Susan M White, Alexandrea Wadley, Mohammad R Toliat, Susanne Motameny, Marek Franitza, Chloe A Stutterd, Pin F Chong, Ryutaro Kira, Toru Sengoku, Kazuhiro Ogata, Maria J Guillen Sacoto, Christine Fresen, Bodo B Beck, Peter Nuernberg, et al.

Journal article  |  2019  |  Human Mutation

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..

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A Clarke, Rani Sachdev, George McGillivray, Richard J Leventer, et al.

Journal article  |  2019  |  Journal of Human Genetics

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability,..

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..

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Karen W Gripp, Lindsey A Morse, Marni Axelrad, Kathryn C Chatfield, Aaron Chidekel, William Dobyns, Daniel Doyle, Bronwyn Kerr, Angela E Lin, David D Schwartz, Barbara J Sibbles, Dawn Siegel, Suma P Shankar, David A Stevenson, Mihir M Thacker, K Nicole Weaver, Sue M White, Katherine A Rauen

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

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

Clinical and molecular spectrum of CHOPS syndrome

Sarah E Raible, Devanshi Mehta, Chiara Bettale, Sarah Fiordaliso, Maninder Kaur, Livija Medne, Marlene Rio, Eric Haan, Susan M White, Kristina Cusmano-Ozog, Eriko Nishi, Yiran Guo, Honglin Wu, Xiaoqing Shi, Qingjie Zhao, Xueqin Zhang, Qi Lei, Aimei Lu, Xiyu He, Nobuhiko Okamoto, et al.

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

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2 -Activated K Channel SK3 Cause Zimmermann-Laband Syndrome

Christiane K Bauer, Pauline E Schneeberger, Fanny Kortuem, Janine Altmueller, Fernando Santos-Simarro, Laura Baker, Jennifer Keller-Ramey, Susan M White, Philippe M Campeau, Karen W Gripp, Kerstin Kutsche

Journal article  |  2019  |  The American Journal of Human Genetics

Floating-Harbor Syndrome

Malgorzata JM Nowaczyk, Sarah M Nikkel, Susan M White

Book Chapter  |  2019

CLINICAL CHARACTERISTICS:Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, norma..

Cerebral hypomyelination associated with biallelic variants of FIG4

Guy M Lenk, Ian R Berry, Chloe A Stutterd, Moira Blyth, Lydia Green, Gayatri Vadlamani, Daniel Warren, Ian Craven, Miriam Fanjul-Fernandez, Victoria Rodriguez-Casero, Paul J Lockhart, Adeline Vanderver, Cas Simons, Susan Gibb, Simon Sadedin, Susan M White, John Christodoulou, Olga Skibina, Jonathan Ruddle, Tiong Y Tan, et al.

Journal article  |  2019  |  Human Mutation

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 ..

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory Costain, Bert Callewaert, Heinz Gabriel, Tiong Y Tan, Susan Walker, John Christodoulou, Tamas Lazar, Bjorn Menten, Julia Orkin, Simon Sadedin, Meaghan Snell, Arnaud Vanlander, Sarah Vergult, Susan M White, Stephen W Scherer, Robin Z Hayeems, Susan Blaser, Shoshana J Wodak, David Chitayat, Christian R Marshall, et al.

Journal article  |  2019  |  Genetics in Medicine

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome

Sara Griffiths, Chey Loveday, Anna Zachariou, Lucy-Ann Behan, Kate Chandler, Trevor Cole, Stefano D'Arrigo, Andrea Dieckmann, Alison Foster, James Gibney, Matthew Hunter, Donatella Milani, Chiara Pantaleoni, Edna Roche, Mark Sherlock, Amanda Springer, Susan M White, Katrina Tatton-Brown

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

Report of a bi-allelic truncating germline mutation in TP53

Natasha J Brown, Kanika Bhatia, Julie Teague, Susan M White, Patrick Lo, Jackie Challis, Victoria Beshay, Michael Sullivan, David Malkin, Jordan R Hansford

Journal article  |  2019  |  Familial Cancer

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

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

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, Laila C Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh CS Nagamani, Sau Wai Cheung, Philippe M Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A Tarnopolsky, David J Callen, A Micheil Innes, Susan M White, Wendy S Meschino, Andrew Y Shuen, Guillaume Pare, Dennis E Bulman, et al.

Journal article  |  2018  |  Nature Communications

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen, Erica Gerkes, Rolph Pfundt, Susan M White, Nava Shaul-Lotan, Lori Carpenter, G Bradley Schaefer, Alan Fryer, A Micheil Innes, Kirsten P Forbes, Wendy K Chung, Heather McLaughlin, Lindsay B Henderson, Amy E Roberts, Karen E Heath, Beatriz Paumard-Hernandez, et al.

Journal article  |  2018  |  The American Journal of Human Genetics

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, et al.

Journal article  |  2018  |  Clinical Epigenetics

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

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

F-Nora Voegtle, Bjorn Braendl, Austin Larson, Manuela Pendziwiat, Marisa W Friederich, Susan M White, Alice Basinger, Cansu Kuecuekkoese, Hiltrud Muhle, Johanna A Jaehn, Oliver Keminer, Katherine L Helbig, Carolyn F Delto, Lisa Myketin, Dirk Mossmann, Nils Burger, Noriko Miyake, Audrey Burnett, Andreas van Baalen, Mark A Lovell, et al.

Journal article  |  2018  |  The American Journal of Human Genetics

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White

Journal article  |  2018  |  Journal of Pediatric Endocrinology and Metabolism

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

Kenneth A Myers, Susan M White, Shehla Mohammed, Kay A Metcalfe, Andrew E Fry, Elisabeth Wraige, Pradeep C Vasudevan, Meena Balasubramanian, Ingrid E Scheffer

Journal article  |  2018  |  Epilepsy Research

Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child

Brooke E Harcourt, Denise VR Bullen, Kung-Ting Kao, Daniella Tassoni, Erin J Alexander, Trent Burgess, Susan M White, Matthew A Sabin

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

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

Tracy Dudding-Byth, Anne Baxter, Elizabeth G Holliday, Anna Hackett, Sheridan O'Donnell, Susan M White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C Lovell

Journal article  |  2017  |  BMC Biotechnology

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

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

Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age

Evelyne Muggli, Harold Matthews, Anthony Penington, Peter Claes, Colleen O'Leary, Della Forster, Susan Donath, Peter J Anderson, Sharon Lewis, Cate Nagle, JeffreyM Craig, Susan M White, Elizabeth J Elliott, Jane Halliday

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

Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing

Victoria McKay, Daryl Efron, Elizabeth E Palmer, Susan M White, Chris Pearson, Margie Danchin

Journal article  |  2017  |  Journal of Paediatrics and Child Health

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment

Aamira J Huq, Michael Bogwitz, Alexandra Gorelik, Ingrid M Winship, Susan M White, Alison H Trainer

Journal article  |  2017  |  Internal Medicine Journal

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

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grunewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo AJ Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller

Journal article  |  2017  |  Journal of Inherited Metabolic Disease

An approach to the child with dysmorphic features

Jonathan Kaufman, Susan M White

Journal article  |  2017  |  Journal of Paediatrics and Child Health

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

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Esther Meyer, Keren J Carss, Julia Rankin, John ME Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barra, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, et al.

Journal article  |  2017  |  Nature Genetics

Proceedings Syndrome Day 2016 Frank-Majewski-Prize Winner 2016

Fanny Kortuem, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal DV Nair, Tuyet Mai Nguyen Thi, Patrick Thierry, Susan M White, Bruno Dallapiccola, Antonio Pizzuti, et al.

Journal article  |  2016  |  MEDIZINISCHE GENETIK

First Report of Congenital Adrenal Cysts and Pheochromocytoma in a Patient with Mosaic Genome-Wide Paternal Uniparental Disomy

Mary White, George McGillivray, Sue M White, Margaret R Zacharin

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

"It Wasn't a Disaster or Anything": Parents' Experiences of Their Child's Uncertain Chromosomal Microarray Result

Ella J Wilkins, Alison D Archibald, Margaret A Sahhar, Susan M White

Journal article  |  2016  |  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

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

Epilepsy in KCNH1-related syndromes

Mario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, Lal DV Nair, Candace T Myers, Maria Lisa Dentici, Georg C Korenke, Kelly Schoch, Philippe M Campeau, Susan M White, Vandana Shashi, Sujay Kansagra, Anthonie J Van Essen, Vincenzo Leuzzi

Journal article  |  2016  |  Epileptic Disorders

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

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

M Avila, DA Dyment, JV Sagen, J St-Onge, U Moog, BHY Chung, S Mo, S Mansour, A Albanese, S Garcia, DO Martin, AA Lopez, T Claudi, R Koenig, SM White, SL Sawyer, JA Bernstein, L Slattery, RK Jobling, G Yoon, et al.

Journal article  |  2016  |  Clinical Genetics

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Lijia Huang, Megan R Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A Dabir, Katrina M Dipple, William B Dobyns, Jane Estrella, Hanna Faghfoury, Francine P Favaro, Himanshu Goel, Pernille A Gregersen, Karen W Gripp, Art Grix, Maria-Leine Guion-Almeida, Margaret H Harr, Cindy Hudson, et al.

Journal article  |  2016  |  Human Mutation

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

Speech and Language in a Genotyped Cohort of Individuals with Kabuki Syndrome

Angela T Morgan, Cristina Mei, Annette Da Costa, Joanne Fifer, Damien Lederer, Valerie Benoit, Margaret J McMillin, Kati J Buckingham, Michael J Bamshad, Kate Pope, Susan M White

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

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortuem, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Aawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal DV Nair, Tuyet Mai Nguyen Thi, Patrick Thierry, Susan M White, Bruno Dallapiccola, Antonio Pizzuti, et al.

Journal article  |  2015  |  Nature Genetics

Is Cardiac Rhabdomyoma a Feature of Birt Hogg Dube Syndrome?

Davide Bondavalli, Susan M White, Andrew Steer, Andreas Pflaumer, Ingrid Winship

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

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

S Banka, D Lederer, V Benoit, E Jenkins, E Howard, S Bunstone, B Kerr, S McKee, IC Lloyd, D Shears, H Stewart, SM White, R Savarirayan, GMS Mancini, D Beysen, RD Cohn, B Grisart, I Maystadt, D Donnai

Journal article  |  2015  |  Clinical Genetics

ARID1B-mediated disorders: Mutations and possible mechanisms

Joe CH Sim, Susan M White, Paul J Lockhart

Journal article  |  2015  |  Intractable & Rare Diseases Research

A Population-Based Profile of 160 Australians with Prader-Willi Syndrome: Trends in Diagnosis, Birth Prevalence and Birth Characteristics

Tess Lionti, Susan M Reid, Susan M White, Margaret M Rowell

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

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

Gillian M Blue, Edwin P Kirk, Eleni Giannoulatou, Sally L Dunwoodie, Joshua WK Ho, Desiree CK Hilton, Susan M White, Gary F Sholler, Richard P Harvey, David S Winlaw

Journal article  |  2014  |  Journal of the American College of Cardiology

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..

An Exploration of the Communication Patterns and Language Used Between Clinical Geneticists and Parents of Children with Dysmorphic Features

Emma J Steel, Jan Hodgson, Lesley Stirling, Susan M White

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

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Joe CH Sim, Susan M White, Elizabeth Fitzpatrick, Gabrielle R Wilson, Greta Gillies, Kate Pope, Hayley S Mountford, Pernille M Torring, Shane Mckee, Anneke T Vulto-van Silfhout, Shalini N Jhangiani, Donna M Muzny, Richard J Leventer, Martin B Delatycki, David J Amor, Paul J Lockhart

Journal article  |  2014  |  Orphanet Journal of Rare Diseases

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

MJM Nowaczyk, BA Thompson, S Zeesman, U Moog, PA Sanchez-Lara, PL Magoulas, RE Falk, JE Hoover-Fong, DAS Batista, SM Amudhavalli, SM White, GE Graham, KA Rauen

Journal article  |  2014  |  Clinical 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

Genotype and Clinical Care Correlations in Craniosynostosis: Findings From a Cohort of 630 Australian and New Zealand Patients

T Roscioli, G Elakis, TC Cox, DJ Moon, H Venselaar, AM Turner, T Le, E Hackett, E Haan, A Colley, D Mowat, L Worgan, EP Kirk, R Sachdev, E Thompson, M Gabbett, J McGaughran, K Gibson, M Gattas, M-L Freckmann, et al.

Journal article  |  2013  |  American Journal of Medical Genetics. Part C: Seminars in Medical Genetics

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata JM Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith E Allanson, Paolo Balestri, Tawfeg Ben-Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destree, David Fitzpatrick, et al.

Journal article  |  2013  |  Orphanet Journal of Rare Diseases

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

D Ganesamoorthy, DL Bruno, G McGillivray, F Norris, SM White, S Adroub, DJ Amor, A Yeung, R Oertel, MD Pertile, C Ngo, AR Arvaj, S Walker, P Charan, R Palma-Dias, N Woodrow, HR Slater

Journal article  |  2013  |  BJOG

Obstructive Sleep Apnea Successfully Treated by Mandibular Distraction Osteogenesis in a Rare Skeletal Dysplasia

Amanda Louise Griffiths, Andrew Heggie, Sarah Holman, Stephen P Robertson, Susan M White

Journal article  |  2013  |  Journal of Craniofacial Surgery

Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Nadia A Akawi, Fuat E Canpolat, Susan M White, Josep Quilis-Esquerra, Martin Morales Sanchez, Maria Jose Gamundi, Ganeshwaran H Mochida, Christopher A Walsh, Bassam R Ali, Lihadh Al-Gazali

Journal article  |  2013  |  Human Mutation

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

A Akawi, E Canpolat, SM White, undefined Quilis-Esquerra, undefined Sanchez, undefined Gamundi, H Mochida, A Walsh, undefined Ali, undefined Al-Gazali

Journal article  |  2013  |  Human Mutation

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Remi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B Jensen, Pierre Cochat, Stephane DeCramer, Joanne Dixon, Regen Drouin, Marni J Falk, Holly Feret, Robert Gise, Alasdair Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin, et al.

Journal article  |  2012  |  Human Mutation

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L Hood, Matthew A Lines, Sarah M Nikkel, Jeremy Schwartzentruber, Chandree Beaulieu, Malgorzata JM Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S Moilanen, Didier Lacombe, Gabriele Gillessen-Kaesbach, Margo L Whiteford, Caio Robledo DC Quaio, Israel Gomy, Debora R Bertola, Beate Albrecht, Konrad Platzer, George McGillivray, Ruobing Zou, et al.

Journal article  |  2012  |  American Journal of Human Genetics

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Michael A Simpson, Charu Deshpande, Dimitra Dafou, Lisenka ELM Vissers, Wesley J Woollard, Susan E Holder, Gabriele Gillessen-Kaesbach, Ronny Derks, Susan M White, Ruthy Cohen-Snuijf, Sarina G Kant, Lies H Hoefsloot, Willie Reardon, Han G Brunner, Ernie MHF Bongers, Richard C Trembath

Journal article  |  2012  |  American Journal of Human Genetics

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Hana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, Elisa De Franco, Ildem Akerman, Richard Caswell, undefined International Pancreatic Agenesis Consortium, Jorge Ferrer, Andrew T Hattersley, Sian Ellard

Journal article  |  2011  |  Nature Genetics

Understanding the regulation of pancreatic development is key for efforts to develop new regenerative therapeutic approaches for d..

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

Drawing attention to difference: Dilemmas in discussing dysmorphism with parents

Susan M White, Jan Hodgson

Journal article  |  2011  |  Journal of Paediatrics and Child Health

Report of A Further Family With Dominant Deafness-Onychodystrophy (DDOD) Syndrome

Susan M White, Michael Fahey

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

Pierpont Syndrome: A Collaborative Study

Emma MM Burkitt Wright, Mohnish Suri, Susan M White, Nicole de Leeuw, Anneke T Vulto-van Silfhout, Fiona Stewart, Shane McKee, Sahar Mansour, Fiona C Connell, Maya Chopra, Edwin P Kirk, Koen Devriendt, Willie Reardon, Han Brunner, Dian Donnai

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

Clinical, Pathological, and Molecular Analyses of Cardiovascular Abnormalities in Costello Syndrome: A Ras/MAPK Pathway Syndrome

Angela E Lin, Mark E Alexander, Steven D Colan, Bronwyn Kerr, Katherine A Rauen, Jacqueline Noonan, Jeanne Baffa, Elizabeth Hopkins, Katia Sol-Church, Giuseppe Limongelli, Maria Christina Digilio, Bruno Marino, A Micheil Innes, Yoko Aoki, Michael Silberbach, Marie-Ange Delrue, Susan M White, Robert M Hamilton, William O'Connor, Paul D Grossfeld, et al.

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

The Phenotype of Floating-Harbor Syndrome in 10 Patients

Susan M White, Angela Morgan, Annette Da Costa, Didier Lacombe, Samantha JL Knight, Richard Houlston, Margo L Whiteford, Ruth A Newbury-Ecob, Jane A Hurst

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

Registry- and Clinic-Based Analyses of Birth Defects and Syndromes Associated With Cleft Lip/Palate in Victoria, Australia

Tiong Yang Tan, David J Amor, Merilyn Riley, Jane Halliday, Nicky Kilpatrick, Katrina Simms, Susan M White

Journal article  |  2009  |  Cleft Palate - Craniofacial Journal

Two Cases of Trisomy 16 Mosaicism Ascertained Postnatally

Claudine Rieubland, David Francis, Leonie Houben, Sylvea Corrie, Agnes Bankier, Susan M White

Journal article  |  2009  |  American Journal of Medical Genetics. Part A

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

DL Bruno, D Ganesamoorthy, J Schoumans, A Bankier, D Coman, M Delatycki, RJM Gardner, M Hunter, PA James, P Kannu, G McGillivray, N Pachter, H Peters, C Rieubland, R Savarirayan, IE Scheffer, L Sheffield, T Tan, SM White, A Yeung, et al.

Journal article  |  2009  |  Journal of Medical Genetics

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

Benjamin Abo-Dalo, Melanie Roes, Sonia Canun, Martin Delatycki, Gabriele Gillessen-Kaesbach, Ihor Hrytsiuk, Christine Jung, Bronwyn Kerr, David Mowat, Eva Seemanova, Carlos E Steiner, Helen Stewart, Patrick Thierry, Griet van Buggenhout, Sue White, Martin Zenker, Kerstin Kutsche

Journal article  |  2008  |  Clinical Dysmorphology

Molecular characterization of a novel x-linked syndrome involving developmental delay and deafness

Michael S Hildebrand, Michelle G de Silva, Tiong Yang Tan, Elizabeth Rose, Carla Nishimura, Tanya Tolmachova, Joanne M Hulett, Susan M White, Jeremy Silver, Melanie Bahlo, Richard JH Smith, Hans-Henrik M Dahl

Journal article  |  2007  |  American Journal of Medical Genetics

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?

David J Coman, Susan M White, David J Amor

Journal article  |  2007  |  American Journal of Medical Genetics

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?

David J Coman, Susan M White, David J Amor

Journal article  |  2007  |  American Journal of Medical Genetics, Part A

Confined blood chimerism in monochorionic dizygous (MCDZ) twins

Susan P Walker, Simon Meagher, Susan M White

Journal article  |  2007  |  Prenatal Diagnosis

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation

Angela Arnold, Stewart Payne, Samantha Fisher, Diane Fricker, Judith Soloway, Susan M White, Marco Novelli, Kylie MacDonald, James Mackay, Richard Groves, Natalie Canham

Journal article  |  2007  |  Familial Cancer

Rapp-Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay-Wells syndrome

P Kannu, R Savarirayan, L Ozoemena, SM White, JA McGrath

Journal article  |  2006  |  American Journal of Medical Genetics

Talking genes

S White

Journal article  |  2006  |  International Journal of Speech-Language Pathology

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature

TY Tan, G McGillivray, SK Goergen, SM White

Journal article  |  2005  |  American Journal of Medical Genetics

The adult phenotype in Costello syndrome

SM White, JM Graham, B Kerr, K Gripp, R Weksberg, C Cytrynbaum, JL Reeder, FJ Stewart, M Edwards, M Wilson, A Bankier

Journal article  |  2005  |  American Journal of Medical Genetics

Midline raphe, sternal cleft, and other midline abnormalities: A new dominant syndrome?

F Forzano, PEF Daubeney, SM White

Journal article  |  2005  |  American Journal of Medical Genetics

Severe fetal brain dysgenesis with focal calcification

RJM Gardner, CW Chow, I Simpson, AM Fink, SE Meagher, SM White

Journal article  |  2005  |  Prenatal Diagnosis

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6

J Visootsak, B Rosner, E Dykens, C Schwartz, K Hahn, SM White, R Szeftel, JM Graham

Journal article  |  2004  |  Journal of Pediatrics

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome

SM White, EM Thompson, A Kidd, R Savarirayan, A Turner, D Amor, MB Delatycki, M Fahey, A Baxendale, S White, E Haan, K Gibson, JL Halliday, A Bankier

Journal article  |  2004  |  American Journal of Medical Genetics

The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations

G Turner, KM Lower, SM White, M Delatycki, AK Lampe, M Wright, J Clayton-Smith, B Kerr, S Schelley, HE Hoyme, BBA De Vries, T Kleefstra, M Grompe, B Cox, J Gecz, M Partington

Journal article  |  2004  |  Clinical Genetics

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition

SM White, LC Ades, D Amor, J Liebelt, A Bankier, E Baker, M Wilson, R Savarirayan

Journal article  |  2003  |  Clinical Dysmorphology

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families

R Savarirayan, SM White, FR Goodman, JM Graham, MB Delatycki, RS Lachman, DL Rimoin, DB Everman, ML Warman

Journal article  |  2003  |  American Journal of Medical Genetics

Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome

KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw, AK Gedeon, S Schelley, HE Hoyme, SM White, MB Delatycki, AK Lampe, J Clayton-Smith, H Stewart, CMA van Ravenswaay, BBA de Vries, B Cox, M Grompe, S Ross, P Thomas, JC Mulley, et al.

Journal article  |  2002  |  Nature Genetics

The mutational spectrum of brachydactyly type C

DB Everman, CF Bartels, Y Yang, N Yanamandra, FR Goodman, JR Mendoza-Londono, R Savarirayan, SM White, JM Graham, RP Gale, E Svarch, WG Newman, AR Kleckers, CA Francomano, V Govindaiah, L Singh, S Morrison, JT Thomas, ML Warman

Journal article  |  2002  |  American Journal of Medical Genetics

Cystic fibrosis: A further case of an asymptomatic compound heterozygote

SM White, A Lucassen, G Norbury

Journal article  |  2001  |  American Journal of Medical Genetics

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

BB de Vries, SM White, SJ Knight, R Regan, T Homfray, ID Young, M Super, C McKeown, M Splitt, OW Quarrell, AH Trainer, MF Niermeijer, S Malcolm, J Flint, JA Hurst, RM Winter

Journal article  |  2001  |  Journal of Medical Genetics

BACKGROUND: Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental reta..

Renal-hepatic-pancreatic dysplasia: a broad entity.

SM White, JA Hurst, H Hamoda, P Chamberlain, CM Bowker

Journal article  |  2000  |  American Journal of Medical Genetics

Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature.

SM White, P Chamberlain, R Hitchcock, PB Sullivan, PA Boyd

Journal article  |  2000  |  Prenatal Diagnosis

Megacystis on antenatal scan in female fetuses is rare and has serious diagnostic implications. We report two cases of megacystis-..

Diagnostic re-evaluation of a case of 'cerebellar atrophy with Huntington's disease' [1]

SM White, SS Gubbay, CG Norbury, EM Rosser, SM Huston

Original Creative Work - Other  |  2000  |  Journal of the Neurological Sciences

Diagnostic re-evaluation of a case of 'cerebellar atrophy with Huntington's disease'.

SM White, SS Gubbay, CG Norbury, EM Rosser, SM Huson

Journal article  |  2000  |  Journal of the neurological sciences