Ravi Savarirayan

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott

Journal article  |  2020  |  Journal of Medical Genetics

BACKGROUND: Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early leth..

Best practice guidelines for management of spinal disorders in skeletal dysplasia

Klane K White, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E Kamps, William G Mackenzie, Cathleen Raggio, Samantha A Spencer, Viviana Bompadre, Ravi Savarirayan

Journal article  |  2020  |  Orphanet Journal of Rare Diseases

BACKGROUND: Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to t..

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

Svein O Fredwall, Unni Steen, Olga de Vries, Cecilie F Rustad, Heidi Beate Eggesbo, Harald Weedon-Fekjaer, Ingeborg B Udal, Ravi Savarirayan, Grethe Manum

Journal article  |  2020  |  Orphanet Journal of Rare Diseases

BACKGROUND: Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of S..

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders

Pernille A Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan

Journal article  |  2020  |  Molecular Genetics & Genomic Medicine

BACKGROUND: Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic vari..

Current knowledge of medical complications in adults with achondroplasia: A scoping review.

Svein O Fredwall, Grethe Maanum, Heidi Johansen, Hildegun Snekkevik, Ravi Savarirayan, Ingeborg B Lidal

Journal article  |  2020  |  Clinical Genetics

This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issu..

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..

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti-Furga, Sheila Unger, Matthew L Warman

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

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply.

Ravi Savarirayan, Melita Irving, Jonathan Day

Journal article  |  2019  |  New England Journal of Medicine

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders

Ravi Savarirayan, Viviana Bompadre, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E Kamps, William G Mackenzie, Cathleen Raggio, Samantha S Spencer, Klane K White

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the ..

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia

Ravi Savarirayan, Melita Irving, Carlos A Bacino, Bret Bostwick, Joel Charrow, Valerie Cormier-Daire, Kim-Hanh Le Quan Sang, Patricia Dickson, Paul Harmatz, John Phillips, Natalie Owen, Anu Cherukuri, Kala Jayaram, George S Jeha, Kevin Larimore, Ming-Liang Chan, Alice Huntsman Labed, Jonathan Day, Julie Hoover-Fong

Journal article  |  2019  |  New England Journal of Medicine

Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?

Nadirah Damseh, Jennifer Stimec, Alan O'Brien, Christian Marshall, Ravi Savarirayan, Ali Jawad, Ronald Laxer, Peter Kannu

Journal article  |  2019  |  Orphanet Journal of Rare Diseases

A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect

Michael J McKay, Jeffery Craig, Paul Kalitsis, Sergei Kozlov, Sandra Verschoor, Phillip Chen, Pavel Lobachevsky, Raja Vasireddy, Yuqian Yan, Jacinta Ryan, George McGillivray, Ravi Savarirayan, Martin F Lavin, Robert G Ramsay, Huiling Xu

Journal article  |  2019  |  International Journal of Radiation Oncology*Biology*Physics

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, Jennifer B Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R Higgs, Audrey E Christiansen, Denise G Lanza, John R Seavitt, Mahim Jain, Xiaohui Li, David A Parry, Vandana Raman, David Chitayat, Ivan K Chinn, Alison A Bertuch, Lefkothea Karaviti, Alan E Schlesinger, Dawn Earl, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

Ravi Savarirayan, Judith P Rossiter, Julie E Hoover-Fong, Melita Irving, Viviana Bompadre, Michael J Goldberg, Michael B Bober, Tae-Joon Cho, Shawn E Kamps, William G Mackenzie, Cathleen Raggio, Samantha S Spencer, Klane K White

Journal article  |  2018  |  American Journal of Obstetrics and Gynecology

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Caroline Michot, Carine Le Goff, Edward Blair, Patricia Blanchet, Yline Capri, Brigitte Gilbert-Dussardier, Alice Goldenberg, Alex Henderson, Bertrand Isidor, Hulya Kayserili, Esther Kinning, Martine Le Merrer, Stanislas Lyonnet, Sylvie Odent, Pelin Ozlem Simsek-Kiper, Chloe Quelin, Ravi Savarirayan, Marleen Simon, Miranda Splitt, Judith MA Verhagen, et al.

Journal article  |  2018  |  European Journal of Human Genetics

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Josephina AN Meester, Maja Sukalo, Kim C Schroeder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C Bramswig, Duygu Duman, Brigitte Gilbert-Dussardier, Muriel Holder-Espinasse, Peter Itin, Diana S Johnson, Shelagh Joss, Hannele Koillinen, Fiona McKenzie, Jenny Morton, Heike Nelle, Willie Reardon, Claudia Roll, Mustafa A Salih, et al.

Journal article  |  2018  |  Human Mutation

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

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

Journal article  |  2018  |  Genetics in Medicine

Monoallelic and biallelic &ITCREB3L1 &ITvariant causes mild and severe osteogenesis imperfecta, respectively

Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad, Peter H Byers

Journal article  |  2018  |  Genetics in Medicine

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias

SA Manikkam, K Chetcuti, KB Howell, R Savarirayan, AM Fink, SA Mandelstam

Journal article  |  2018  |  American Journal of Neuroradiology

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C Gunning, Hana Lango Allen, Lisa Bradley, Angela F Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, et al.

Journal article  |  2018  |  Prenatal Diagnosis

OBJECTIVE: Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limi..

Best practices in peri-operative management of patients with skeletal dysplasias

Klane K White, Viviana Bompadre, Michael J Goldberg, Michael B Bober, Tae-Joon Cho, Julie E Hoover-Fong, Melita Irving, William G Mackenzie, Shawn E Kamps, Cathleen Raggio, Gregory J Redding, Samantha S Spencer, Ravi Savarirayan, Mary C Theroux

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

Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia

Peter J Simm, Ravi Savarirayan

Journal article  |  2017  |  Journal of Paediatrics and Child Health

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

Molecular genetics of the cartilage collagenopathies

SR Lamandé, TL Cameron, R Savarirayan, JF Bateman

Book Chapter  |  2017

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity

Gareth Baynam, Caron Molster, Alicia Bauskis, Emma Kowal, Ravi Savarirayan, Margaret Kelaher, Simon Easteal, Libby Massey, Gail Garvey, Jack Goldblatt, Nicholas Pachter, Tarun S Weeramanthri, Hugh JS Dawkins

Book Chapter  |  2017  |  Advances in Experimental Medicine and Biology

Recurrent Chronic Histiocytic Intervillositis with Intrauterine Growth Restriction, Osteopenia, and Fractures

April Crawford, Lynette Moore, Gregory Bennett, Ravi Savarirayan, Nicholas Manton, Yee Khong, Christopher P Barnett, Eric Haan

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

Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders

Friyana K Bhabha, Maie Walsh, David Orchard, Ravi Savarirayan

Journal article  |  2016  |  Australasian Journal of Dermatology

Emerging targeted drug therapies in skeletal dysplasias

Patrick Yap, Ravi Savarirayan

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

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Stephen RF Twigg, Anne Goriely, Simon J McGowan, Kerry A Miller, Indira B Taylor, Clare Logan, Sevcan Bozdogan, Sumita Danda, Joanne Dixon, Solaf M Elsayed, Ezzat Elsobky, Alice Gardham, Mariette JV Hoffer, Marije Koopmans, Donna M McDonald-McGinn, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis

Niloufar Torkamani, Pramit Phal, Ravi Savarirayan, Peter Simm, George Varigos, John Wark

Journal article  |  2016  |  Clinical Cases in Mineral and Bone Metabolism

Pseudodiastrophic Dysplasia: Two Cases Delineating and Expanding the Pre and Postnatal Phenotype

Patrick Yap, Jan E Liebelt, David J Amor, Lynette Moore, Ravi Savarirayan

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

Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?"

Klane K White, Ravi Savarirayan, Michael J Goldberg, William MacKenzie, Viviana Bompadre, Michael B Bober, Tae-Joon Cho, Julie Hoover-Fong, Shawn E Parnell, Cathleen Raggio, Samantha A Spencer, Jeffery W Campbell, David M Rapoport, Yemiserach Kifle, Marcella Blackledge

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

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

Duong Bich-Thu, Ravi Savarirayan, Ingrid Winship

Journal article  |  2016  |  Familial Cancer

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

Emmanuelle Souzeau, Kathryn P Burdon, David A Mackey, Alex W Hewitt, Ravi Savarirayan, Margaret Otlowski, Jamie E Craig

Journal article  |  2016  |  Translational Vision Science & Technology

Best Practices in the Evaluation and Treatment of Foramen Magnum Stenosis in Achondroplasia during Infancy

Klane K White, Viviana Bompadre, Michael J Goldberg, Michael B Bober, Jeffrey W Campbell, Tae-Joon Cho, Julie Hoover-Fong, William Mackenzie, Shawn E Parnell, Cathleen Raggio, David M Rapoport, Samantha A Spencer, Ravi Savarirayan

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

Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision

Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Juergen Spranger, Andrea Superti-Furga, Matthew Warman, Sheila Unger

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

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

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

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

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Ricarda Floettmann, Johannes Wagner, Karolina Kobus, Cynthia J Curry, Ravi Savarirayan, Gen Nishimura, Natsuo Yasui, Juergen Spranger, Hilde Van Esch, Michael J Lyons, Barbara R DuPont, Alka Dwivedi, Eva Klopocki, Denise Horn, Stefan Mundlos, Malte Spielmann

Journal article  |  2015  |  Journal of Medical Genetics

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Lutz Garbes, Kyungho Kim, Angelika Riess, Heike Hoyer-Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim, Yang Hoon Huh, Hee-Seok Kweon, Ravi Savarirayan, David Amor, Purvi M Kakadia, Tobias Lindig, Karl Oliver Kagan, Jutta Becker, Simeon A Boyadjiev, Bernd Wollnik, Oliver Semler, Stefan K Bohlander, Jinoh Kim, et al.

Journal article  |  2015  |  The American Journal of Human Genetics

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

Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

Dylan A Mordaunt, Ravi Savaririyan

Journal article  |  2015  |  Human Mutation

International Guidelines for the Management and Treatment of Morquio A Syndrome

Christian J Hendriksz, Kenneth I Berger, Roberto Giugliani, Paul Harmatz, Christoph Kampmann, William G Mackenzie, Julian Raiman, Martha Solano Villarreal, Ravi Savarirayan

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

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..

Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate

Andrea Aspinall, Supriya Raj, Anil Jugessur, Mary Marazita, Ravi Savarirayan, Nicky Kilpatrick

Journal article  |  2014  |  International Journal of Paediatric Dentistry

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Danielle C Lynch, Timothee Revil, Jeremy Schwartzentruber, Elizabeth J Bhoj, A Micheil Innes, Ryan E Lamont, Edmond G Lemire, Bernard N Chodirker, Juliet P Taylor, Elaine H Zackai, D Ross McLeod, Edwin P Kirk, Julie Hoover-Fong, Leah Fleming, Ravi Savarirayan, Jacek Majewski, Loydie A Jerome-Majewska, Jillian S Parboosingh, Francois P Bernier

Journal article  |  2014  |  Nature Communications

The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study.

Lynley J Donoghue, Margaret A Sahhar, Ravi Savarirayan, Supriya Raj, Nicky M Kilpatrick, Laura E Forrest

Journal article  |  2014  |  Journal of Community Genetics

Despite being the most common congenital facial anomaly, little is understood about the genetic contribution to isolated clefts of..

Optimal management of complications associated with achondroplasia

Penny J Ireland, Verity Pacey, Andreas Zankl, Priya Edwards, Leanne M Johnston, Ravi Savarirayan

Journal article  |  2014  |  The Application of Clinical Genetics

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

Rebekah Jobling, Rohan D'Souza, Naomi Baker, Irene Lara-Corrales, Roberto Mendoza-Londono, Lucie Dupuis, Ravi Savarirayan, L Ala-Kokko, Peter Kannu

Journal article  |  2014  |  Current Rheumatology Reports

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

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

Kerry A Miller, Casey J Ah-Cann, Megan F Welfare, Tiong Y Tan, Kate Pope, Georgina Caruana, Mary-Louise Freckmann, Ravi Savarirayan, John F Bertram, Michael S Dobbie, John F Bateman, Peter G Farlie

Journal article  |  2013  |  PLoS Genetics

The effect of height, weight and head circumference on gross motor development in achondroplasia

Penelope Jane Ireland, Robert S Ware, Samantha Donaghey, James McGill, Andreas Zankl, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth Thompson, Sharron Townshend, Leanne M Johnston

Journal article  |  2013  |  Journal of Paediatrics and Child Health

TRPV4-associated skeletal dysplasias.

Gen Nishimura, Ekkehart Lausch, Ravi Savarirayan, Masahiro Shiba, Juergen Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti-Furga, Sheila Unger

Journal article  |  2012  |  American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Dominant mutations in the TRPV4 gene result in a bone dysplasia family and form a continuous phenotypic spectrum that includes, in..

Development in children with achondroplasia: a prospective clinical cohort study

Penelope J Ireland, Samantha Donaghey, James McGill, Andreas Zankl, Robert S Ware, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth Thompson, Sharron Townshend, Leanne M Johnston

Journal article  |  2012  |  Developmental Medicine and Child Neurology

Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy

Annette C Da Costa, Vicki A Anderson, Ravi Savarirayan, Jacquie A Wrennall, David K Chong, Anthony D Holmes, Andrew L Greensmith, John G Meara

Journal article  |  2012  |  Childs Nervous System

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

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

Journal article  |  2012  |  Clinical Genetics

Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years

Penelope J Ireland, Sarah Johnson, Samantha Donaghey, Leanne Johnston, Robert S Ware, Andreas Zankl, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth Thompson, Sharron Townshend, James McGill

Journal article  |  2012  |  Journal of Paediatrics and Child Health

Clinical phenotypes associated with type II collagen mutations

Peter Kannu, John Bateman, Ravi Savarirayan

Journal article  |  2012  |  Journal of Paediatrics and Child Health

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

Gail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Amaka Offiah, Michael J Wright, Ravi Savarirayan, Gen Nishimura, Simon C Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl, Michael D Briggs

Journal article  |  2012  |  Human Mutation

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

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

Journal article  |  2011  |  Human Mutation

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Shireen R Lamande, Yuan Yuan, Irma L Gresshoff, Lynn Rowley, Daniele Belluoccio, Kumara Kaluarachchi, Christopher B Little, Elke Botzenhart, Klaus Zerres, David J Amor, William G Cole, Ravi Savarirayan, Peter McIntyre, John F Bateman

Journal article  |  2011  |  Nature Genetics

Functional performance in young Australian children with achondroplasia

Penelope Jane Ireland, James Mcgill, Andreas Zankl, Robert S Ware, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth M Thompson, Sharron Townshend, Leanne Marie Johnston

Journal article  |  2011  |  Developmental Medicine & Child Neurology

The Male Phenotype in Osteopathia Striata Congenita With Cranial Sclerosis

Sarah K Holman, Phil Daniel, Zandra A Jenkins, Rachel L Herron, Tim Morgan, Ravi Savarirayan, CW Chow, Axel Bohring, Annette Mosel, Didier Lacombe, Bernhard Steiner, Thomas Schmitt-Mechelke, Barbara Schroter, Annick Raas-Rothschild, Sixto Garcia Minaur, Mary Porteous, Michael Parker, Oliver Quarrell, Dagmar Tapon, Valerie Cormier-Daire, et al.

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

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

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

Journal article  |  2011  |  European Journal of Human Genetics

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamande, Ravi Savarirayan

Journal article  |  2011  |  Orphanet Journal of Rare Diseases

Two Novel COL2A1 Mutations Associated with a Legg-Calv,-Perthes Disease-like Presentation

Peter Kannu, Melita Irving, Salim Aftimos, Ravi Savarirayan

Journal article  |  2011  |  Clinical Orthopaedics and Related Research

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Matthew L Warman, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L Rimoin, Stephen Robertson, Ravi Savarirayan, David Sillence, Juergen Spranger, Sheila Unger, Bernhard Zabel, Andrea Superti-Furga

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

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Pleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, Hayley S Mountford, Emma A Hall, Martin AM Reijns, Margaret Keighren, Melanie Bahlo, Catherine J Bromhead, Peter Budd, Salim Aftimos, Martin B Delatycki, Ravi Savarirayan, Ian J Jackson, David J Amor

Journal article  |  2011  |  American Journal of Human Genetics

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E Bowen, Eric D Boyden, Ingrid A Holm, Belinda Campos-Xavier, Luisa Bonafe, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V Bovee, Twinkal C Pansuriya, Sergio B de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M Regazzoni, Wim Wuyts, et al.

Journal article  |  2011  |  PLoS Genetics

Premature arthritis is a distinct type II collagen phenotype: comment on the article by Kannu et al Reply

Peter Kannu, John F Bateman, Ravi Savarirayan

Journal article  |  2011  |  Arthritis & Rheumatism

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour

Ryuji Fukuzawa, Sarah K Holman, CW Chow, Ravi Savarirayan, Anthony E Reeve, Stephen P Robertson

Journal article  |  2010  |  Journal of Medical Genetics

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

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

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

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, Maria C Digilio, Maria L Cavaliere, Johanna M van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni B Ferrero, Laura Mazzanti, Isabella Screpanti, Helger G Yntema, et al.

Journal article  |  2010  |  American Journal of Human Genetics

The natural history and osteodystrophy of mucolipidosis types II and III

Grace David-Vizcarra, Julie Briody, Jenny Ault, Michael Fietz, Janice Fletcher, Ravi Savarirayan, Meredith Wilson, Jim McGill, Matthew Edwards, Craig Munns, Melanie Alcausin, Sara Cathey, David Sillence

Journal article  |  2010  |  Journal of Paediatrics and Child Health

Premature Arthritis Is a Distinct Type II Collagen Phenotype

Peter Kannu, John F Bateman, Susan Randle, Shannon Cowie, Desiree du Sart, Shaun McGrath, Matthew Edwards, Ravi Savarirayan

Journal article  |  2010  |  Arthritis and Rheumatism

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness

David P Dimasi, Kathryn P Burdon, Alex W Hewitt, Ravi Savarirayan, Paul R Healey, Paul Mitchell, David A Mackey, Jamie E Craig

Journal article  |  2010  |  Molecular Vision

Clinical significance of two mutations in the factor IX gene in a family with haemophilia B

A Sexton, J Furmedge, C Barnes, G Cheetham, J Wallace, R Savarirayan

Journal article  |  2010  |  Haemophilia

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

David P Dimasi, Jern Y Chen, Alex W Hewitt, Sonja Klebe, Richard Davey, John Stirling, Elizabeth Thompson, Robin Forbes, Tiong Y Tan, Ravi Savarirayan, David A Mackey, Paul R Healey, Paul Mitchell, Kathryn P Burdon, Jamie E Craig

Journal article  |  2010  |  Human Genetics

Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect

Bram Perdu, Fenna de Freitas, Suzanne GM Frints, Meyke Schouten, Connie Schrander-Stumpel, Mafalda Barbosa, Jorge Pinto-Basto, Margarida Reis-Lima, Marie-Christine de Vernejoul, Kristin Becker, Marie-Louise Freckmann, Kathlijn Keymolen, Eric Haan, Ravi Savarirayan, Rainer Koenig, Bernhard Zabel, Filip M Vanhoenacker, Wim Van Hul

Journal article  |  2010  |  Journal of Bone and Mineral Research

Developmental Milestones in Infants and Young Australasian Children With Achondroplasia

Penelope Jane Ireland, Sarah Johnson, Samantha Donaghey, Leanne Johnston, James McGill, Andreas Zankl, Robert S Ware, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth Thompson, Sharron Townshend

Journal article  |  2010  |  Journal of Developmental and Behavioral Pediatrics

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

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

Journal article  |  2010  |  Molecular Syndromology

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

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Bjoern Fischer, Serene C Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Huelya Kayserili, Lihadh Al-Gazali, Monzer Shahwan, Francesco Brancati, Hane Lee, Brian D O'Connor, Mareen Schmidt-von Kegler, Barry Merriman, Stanley F Nelson, Amira Masri, Fawaz Alkazaleh, Deanna Guerra, et al.

Journal article  |  2009  |  Nature Genetics

Heritability of Central Corneal Thickness in Nuclear Families

John A Landers, Alex W Hewitt, David P Dimasi, Jac C Charlesworth, Tania Straga, Richard AD Mills, Ravi Savarirayan, David A Mackey, Kathryn P Burdon, Jamie E Craig

Journal article  |  2009  |  Investigative Ophthalmology and Visual Science

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

TY Tan, S Aftimos, L Worgan, R Susman, M Wilson, S Ghedia, EP Kirk, D Love, A Ronan, A Darmanian, A Slavotinek, J Hogue, JB Moeschler, J Ozmore, R Widmer, R Savarirayan, G Peters

Journal article  |  2009  |  Journal of Medical Genetics

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxova, Karl-Henrik Gustavson, Zvi U Borochowitz, A Micheil Innes, Sheila Unger, Jacques S Beckmann, Laureane Mittaz, Diana Ballhausen, Andrea Superti-Furga, Ravi Savarirayan, Luisa Bonafe

Journal article  |  2009  |  American Journal of Human Genetics

Familial Upper Eyelid Coloboma With Ipsilateral Anterior Hairline Abnormality: Two New Reports of MOTA Syndrome

Alison Yeung, David Amor, Ravi Savarirayan

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

Osteopetrosis

Zornitza Stark, Ravi Savarirayan

Journal article  |  2009  |  Orphanet Journal of Rare Diseases

In Vitro Studies of Non Poly Alanine PHOX2B Mutations Argue Against a Loss-of-Function Mechanism for Congenital Central Hypoventilation

Delphine Trochet, Yves Mathieu, Loic de Pontual, Ravi Savarirayan, Arnold Munnich, Jean-Francois Brunet, Stanislas Lyonnet, Christo Goridis, Jeanne Amiel

Journal article  |  2009  |  Human Mutation

Employing Molecular Genetics of Chondrodysplasias to Inform the Study of Osteoarthritis

Peter Kannu, John F Bateman, Daniele Belluoccio, Amanda J Fosang, Ravi Savarirayan

Journal article  |  2009  |  Arthritis and Rheumatism

Employing the molecular genetics of chondrodysplasias to inform the study of osteoarthritis

P KANNU, JF Bateman, D Belluoccio, AJ Fosang, R Savarirayan

Journal article  |  2009  |  Arthritis and Rheumatism

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

David Coman, Sonya Bacic, Amber Boys, Duncan B Sparrow, Sally L Dunwoodie, Ravi Savarirayan, David J Amor

Journal article  |  2008  |  American Journal of Medical Genetics. Part A

The skeletal manifestations of the congenital disorders of glycosylation

D Coman, M Irving, P Kannu, J Jaeken, R Savarirayan

Journal article  |  2008  |  Clinical Genetics

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.

D Coman, D Bostock, M Hunter, P Kannu, M Irving, V Mayne, M Fietz, J Jaeken, R Savarirayan

Journal article  |  2008  |  American Journal of Medical Genetics Part A

Dysmorphism and the inborn errors of metabolism: The importance of the paediatrician

D Coman, J McGill, R Savarirayan

Journal article  |  2008  |  Perinatology

An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings

Peter Kannu, Jeannette H McFarlane, Ravi Savarirayan, Salim Aftimos

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

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN

Julie AL Cavanagh, Imke Tammen, Peter A Windsor, John F Bateman, Ravi Savarirayan, Frank W Nicholas, Herman W Raadsma

Journal article  |  2007  |  Mammalian Genome

An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings

Peter Kannu, Jeannette H McFarlane, Ravi Savarirayan, Salim Aftimos

Journal article  |  2007  |  American Journal of Medical Genetics

Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long-term natural history

Peter Kannu, Salim Aftimos, Val Mayne, Leo Donnan, Ravi Savarirayan

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

A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

Tiong Yang Tan, Charlotte Whitelaw, Ravi Savarirayan

Journal article  |  2007  |  Clinical Dysmorphology

Lethal metatropic dysplasia: a case report.

Beena Kumar, Peter Kannu, Ravi Savarirayan, Yuen Chan

Journal article  |  2007  |  Pathology

Nosology and classification of genetic skeletal disorders: 2006 revision.

Andrea Superti-Furga, Sheila Unger

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

The objective of the paper is to provide the revision of the Nosology of Constitutional Disorders of Bone that incorporates newly ..

Clinical and Radiographic Findings in 11 Patients Demonstrating Long-term Natural History

P KANNU, undefined Aftimos, undefined Mayne, undefined Donnan, R SAVARIRAYAN

Journal article  |  2007  |  American Journal of Medical Genetics

Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

Tiong Yang Tan, J Larry Jameson, Peter Ellis Campbell, Paul G Ekert, Margaret Zacharin, Ravi Savarirayan

Journal article  |  2006  |  American Journal of Medical Genetics

Isolated and syndromic syngnathism - Management, implications, and genetics

Jillian K Tomlinson, Dip Anat, Nguyen Thanh Liem, Ravi Savarirayan, John G Meara

Journal article  |  2006  |  Annals of Plastic Surgery

Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis

Annette C Da Costa, Izabela Walters, Ravi Savarirayan, Vicki A Anderson, Jacquie A Wrennall, John G Meara

Journal article  |  2006  |  Plastic and Reconstructive Surgery

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

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Jan Hellemans, Philippe Debeer, Michael Wright, Andreas Janecke, Klaus W Kjaer, Peter CM Verdonk, Ravi Savarirayan, Lina Basel, Celia Moss, Johannes Roth, Albert David, Anne De Paepe, Paul Coucke, Geert R Mortier

Journal article  |  2006  |  Human Mutation

To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of pati..

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation

MJ Aldred, AA Talacko, R Savarirayan, V Murdolo, AE Mills, BG Radden, A Alimov, A Villablanca, C Larsson

Journal article  |  2006  |  Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation.

Michael J Aldred, Anna A Talacko, Ravi Savarirayan, Vince Murdolo, Alan E Mills, Bryan G Radden, Andrei Alimov, Andrea Villablanca, Catharina Larsson

Journal article  |  2006  |  Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an important diagnosis because of the possible involvement of other family memb..

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu Syndrome

TY Tan, A Bankier, HR Slater, EL Northrop, M Zacharin, R Savarirayan

Journal article  |  2005  |  American Journal of Medical Genetics

Medial temporal lobe dysgenesis in hypochondroplasia

P Kannu, IM Hayes, S Mandelstam, L Donnan, R Savarirayan

Journal article  |  2005  |  American Journal of Medical Genetics

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

G McGillivray, R Savarirayan, TC Cox, C Stojkoski, R McNeil, A Bankier, JF Bateman, T Roscioli, RJM Gardner, SR Lamande

Journal article  |  2005  |  Journal of Medical Genetics

Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti

IM Hayes, G Varigos, EJ Upjohn, DC Orchard, DJ Penny, R Savarirayan

Journal article  |  2005  |  American Journal of Medical Genetics

Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location

TY Tan, G McGillivray, L Kornman, AM Fink, A Superti-Furga, L Bonafe, DI Francis, R Savarirayan

Journal article  |  2005  |  American Journal of Medical Genetics

Mutations of COL10A1 in schmid metaphyseal chondrodysplasia

JF Bateman, R Wilson, S Freddi, SR Lamande, R Savarirayan

Journal article  |  2005  |  Human Mutation

Neuropsychological diversity in Apert syndrome - A comparison of cognitive profiles

AC Da Costa, R Savarirayan, JA Wrennall, I Walters, N Gardiner, A Tucker, V Anderson, JG Meara

Journal article  |  2005  |  Annals of Plastic Surgery

Neuropsychological Diversity in Apert Syndrome

Annette C Da Costa, Ravi Savarirayan, Jacquie A Wrennall, Izabela Walters, Nicole Gardiner, Alan Tucker, Vicki Anderson, John G Meara

Journal article  |  2005  |  Annals of Plastic Surgery

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3

DJ Amor, L Voullaire, K Bentley, R Savarirayan, DJ Amor

Journal article  |  2005  |  American Journal of Medical Genetics

'It's (not) only teeth'

PJM Crawford, MJ Aldred, R Savarirayan, J Savulescu

Journal article  |  2004  |  Clinical Genetics

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

J Hellemans, O Preobrazhenska, A Willaert, P Debeer, PCM Verdonk, T Costa, K Janssens, B Menten, N Van Roy, SJT Vermeulen, R Savarirayan, W Van Hul, F Vanhoenacker, D Huylebroeck, A De Paepe, JM Naeyaert, J Vandesompele, F Speleman, K Verschueren, PJ Coucke, et al.

Journal article  |  2004  |  Nature Genetics

Are Duane syndrome and infantile esotropia allelic?

Benjamin J Connell, Robin M Wilkinson, Julie M Barbour, Lindsey W Scotter, Johan L Poulsen, M Gabriella Wirth, Rohan W Essex, Ravi Savarirayan, David A Mackey

Journal article  |  2004  |  Ophthalmic Genetics

PURPOSE: To evaluate the clinical overlap of families with Duane syndrome and infantile esotropia to determine whether the identif..

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

CM Whitelaw, S Anwar, LC Ades, GA Gole, JE Elder, R Savarirayan

Journal article  |  2004  |  American Journal of Medical Genetics

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

CM Whitelaw, S Anwar, LC Adès, GA Gole, JE Elder, R Savarirayan

Journal article  |  2004  |  American Journal of Medical Genetics

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

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

Identification of Four Novel COL10A1 Missense Mutations in Schmid Metaphyseal Chondrodysplasia: Further Evidence That Collagen X NC1 Mutations Impair Trimer Assembly

John F Bateman, Susanna Freddi, Robyn McNeil, Elizabeth Thompson, Pia Hermanns, Ravi Savarirayan, Shireen R Lamande

Journal article  |  2004  |  Human Mutation

Jaw lesions and hyperparathyroidism

MJ Aldred, AA Talacko

Journal article  |  2004  |  Journal of Oral and Maxillofacial Surgery

Letter to the editor

MJ Aldred, AA Talacko, R Savarirayan, Z Khalid

Journal article  |  2004  |  Nephrologie

IMAGe syndrome: A complex disorder affecting growth, adrenal and gonadal function, and skeletal development

CC Pedreira, R Savarirayan, MR Zacharin

Journal article  |  2004  |  Journal of Pediatrics

Longterm Follow-Up in Chondrodysplasia Punctata, Tibia-Metacarpal Type, Demonstrating Natural History

R Savarirayan, RJ Boyle, J Masel, JG Rogers, LJ Sheffield

Journal article  |  2004  |  American Journal of Medical Genetics

Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history

R Savarirayan, RJ Boyle, J Masel, JG Rogers, LJ Sheffield

Journal article  |  2004  |  American Journal of Medical Genetics

TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

L Susani, A Pangrazio, C Sobacchi, A Taranta, G Mortier, R Savarirayan, A Villa, P Orchard, P Vezzoni, A Albertini, A Frattini, F Pagani

Journal article  |  2004  |  Human Mutation

Skeletal dysplasias.

Ravi Savarirayan, David L Rimoin

Book Chapter  |  2004  |  Advances in Pediatrics

Ossifying fibroma of the face and hyperparathyroidism in a chronic hemodialysis patient.

MJ Aldred, AA Talacko, R Savarirayan

Journal article  |  2004  |  Nephrologie

Identification of four new COL10A1 missense mutations in Schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly

JF BATEMAN, S FREDDI, R MCNEIL, E THOMPSON, P HERMANNS, R SAVARIRAYAN, SR LAMANDE

Journal article  |  2004  |  Human Mutation

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign

O Mäkitie, R Savarirayan, L Bonafé, S Robertson, M Susic, A Superti-Furga, WG Cole

Journal article  |  2003  |  American Journal of Medical Genetics

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign

O Makitie, R Savarirayan, L Bonafe, S Robertson, M Susic, A Superti-Furga, WG Cole

Journal article  |  2003  |  American Journal of Medical Genetics

Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

K Janssens, E Thompson, F Vanhoenacker, R Savarirayan, L Morris, A Dobbie, W Van Hul

Journal article  |  2003  |  Clinical Dysmorphology

Genetic counselling after carrier detection by newborn screening when one parent carries Delta F508 and the other R117H

L Curnow, R Savarirayan, J Massie

Journal article  |  2003  |  Archives of Disease in Childhood: Education and Practice Edition

Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia

PA James, J Shaw, D du Sart, E Craig, JF Bateman, R Savarirayan

Journal article  |  2003  |  Prenatal Diagnosis

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

R Savarirayan, E Thompson, J Gecz

Journal article  |  2003  |  European Journal of Human Genetics

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

VJ Hyland, SP Robertson, S Flanagan, R Savarirayan, T Roscioli, J Masel, M Hayes, IA Glass

Journal article  |  2003  |  American Journal of Medical Genetics

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

VJ Hyland, SP Robertson, S Flanagan, R Savarirayan, T Roscioli, J Masel, M Hayes, IA Glass

Journal article  |  2003  |  American Journal of Human Genetics

It's only teeth - are there limits to genetic testing?

MJ Aldred, PJM Crawford, R Savarirayan, J Savulescu

Journal article  |  2003  |  Clinical Genetics

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Stephen P Robertson, Stephen RF Twigg, Andrew J Sutherland-Smith, Valérie Biancalana, Robert J Gorlin, Denise Horn, Susan J Kenwrick, Chong A Kim, Eva Morava, Ruth Newbury-Ecob, Karen H Orstavik, Oliver WJ Quarrell, Charles E Schwartz, Deborah J Shears, Mohnish Suri, John Kendrick-Jones, Andrew OM Wilkie, undefined OPD-spectrum Disorders Clinical Collaborative Group

Journal article  |  2003  |  Nature Genetics

Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a..

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

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

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

JF Bateman, S Freddi, G Nattrass, R Savarirayan

Journal article  |  2003  |  Human Molecular Genetics

Amelogenesis imperfecta: a classification and catalogue for the 21st century

MJ Aldred, R Savarirayan, PJM Crawford

Journal article  |  2003  |  Oral Diseases

Variable expression of campomelic dysplasia in a father and his 46, XY daughter

R Savarirayan, SP Robertson, A Bankier, JG Rogers

Journal article  |  2003  |  Pediatric Pathology & Molecular Medicine

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

The skeletal dysplasias

R Savarirayan, DL Rimoin

Journal article  |  2002  |  Bailliere's Best Practice and Research in Clinical Endocrinology & Metabolism

Molecular analysis for genetic counselling in amelogenesis imperfecta

MJ Aldred, RK Hall, N Kilpatrick, A Bankier, R Savarirayan, SR Lamande, NJ Lench, PJM Crawford

Journal article  |  2002  |  Oral Diseases

Prenatal cortical hyperostosis (Caffey disease)

R Savarirayan, V Cormier-Daire, DJ Amor, WR Wilcox, RS Lachman, DL Rimoin

Journal article  |  2002  |  Pediatric Radiology

Response to Ten Berg and Lindhout

RJM Gardner, R Savarirayan, LT Coleman, GK Suthers, LJ Sheffield

Journal article  |  2002  |  Clinical Dysmorphology

Familial digital arthropathy-brachydactyly

DJ Amor, C Tudball, RJM Gardner, SR Lamande, JF Bateman, R Savarirayan

Journal article  |  2002  |  American Journal of Medical Genetics

Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism

MJ Aldred, R Savarirayan, SR Lamande, PJM Crawford

Journal article  |  2002  |  Oral Diseases

Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism

MJ ALDRED, R SAVARIRAYAN, SR LAMANDE, PJM CRAWFORD

Journal article  |  2002  |  Oral Diseases

Phenotypic variability at the TGF-beta 1 locus in Camurati-Engelmann disease

AB Campos-Xavier, JM Saraiva, R Savarirayan, A Verloes, J Feingold, L Faivre, A Munnich, M Le Merrer, V Cormier-Daire

Journal article  |  2001  |  Human Genetics

Intermediate form of Ablepharon-Macrostomia syndrome with CNS abnormalities

DJ Amor, R Savarirayan

Journal article  |  2001  |  American Journal of Medical Genetics

Microlissencephaly with cardiac, spinal and urogenital defects

RJM Gardner, R Savarirayan, KB Dunne, JA McLellan, LT Coleman, GK Suthers

Journal article  |  2001  |  Clinical Dysmorphology

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

AK Gedeon, GE Tiller, M Le Merrer, S Heuertz, L Tranebjaerg, D Chitayat, S Robertson, IA Glass, R Savarirayan, WG Cole, DL Rimoin, BG Kousseff, H Ohashi, B Zabel, A Munnich, J Gecz, JC Mulley

Journal article  |  2001  |  American Journal of Human Genetics

"Baby rattle" pelvis dysplasia

V Cormier-Daire, R Savarirayan, RS Lachman, JA Neidich, K Grace, DL Rimoin, WR Wilcox

Journal article  |  2001  |  American Journal of Medical Genetics

"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias

V Cormier-Daire, R Savarirayan, S Unger, DL Rimoin, RS Lachman

Journal article  |  2001  |  Pediatric Radiology

Autosomal dominant inheritance of scapuloiliac dysostosis [1]

DJ Amor, R Savarirayan, A Bankier, F Jensen, SP Hauser

Journal article  |  2000  |  American Journal of Medical Genetics

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.

SP Robertson, DJ Shears, P Oei, RM Winter, PJ Scambler, S Aftimos, R Savarirayan

Journal article  |  2000  |  Journal of Medical Genetics

Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.

R Savarirayan, V Cormier-Daire, S Unger, RS Lachman, PJ Roughley, SF Wagner, DL Rimoin, WR Wilcox

Journal article  |  2000  |  American Journal of Medical Genetics

Oto-palato-digital syndrome type II (OPD II) is a lethal X-linked skeletal dysplasia with pleiotropic manifestations. The basic de..

New mesomelic dysplasia with absent fibulae and triangular tibiae.

R Savarirayan, V Cormier-Daire, CJ Curry, MB Nashelsky, V Rappaport, DL Rimoin, RS Lachman

Journal article  |  2000  |  American Journal of Medical Genetics

We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, ..

Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.

R Savarirayan, V Cormier-Daire, RS Lachman, DL Rimoin

Journal article  |  2000  |  Pediatric Radiology

BACKGROUND: Schmid-type metaphyseal chondrodysplasia (Schmid MCD) is an autosomal dominant chondrodysplasia resulting from various..

New case of Cole-Carpenter syndrome

DJ Amor, R Savarirayan, AS Schneider, A Bankier

Journal article  |  2000  |  American Journal of Medical Genetics

Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy.

R Savarirayan, RJ Gardner, RD Sinclair, M McDowell, JE Cleaver

Journal article  |  2000  |  Journal of Medical Genetics

Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

S Freddi, R Savarirayan, JF Bateman

Journal article  |  2000  |  American Journal of Medical Genetics

Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome.

R Savarirayan, EM Thompson, KJ Abbott, MH Moore

Journal article  |  1999  |  American Journal of Medical Genetics

Adams-Oliver syndrome (AOS) is characterised by aplasia cutis congenita of the scalp and variable degrees of terminal transverse l..

Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers.

R Savarirayan, A Bankier

Journal article  |  1999  |  Journal of Medical Genetics

Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX)

R Savarirayan

Journal article  |  1999  |  Pediatric Radiology

An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement.

SP Robertson, R Dickens, R Savarirayan, JG Rogers

Journal article  |  1999  |  American Journal of Medical Genetics

A disorder affecting bone and cartilage growth is described in a mother and her 3-year-old son. A dysplastic process involving the..

Baller-Gerold syndrome associated with congenital portal venous malformation.

R Savarirayan, P Tomlinson, E Thompson

Journal article  |  1998  |  Journal of Medical Genetics

We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Ball..

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

R Savarirayan, A Bankier

Journal article  |  1998  |  Journal of Medical Genetics

Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to 17q..

Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.

R Savarirayan, J Nance, L Morris, E Haan, R Couper

Journal article  |  1997  |  Clinical Genetics

We report a four-generation family, with five individuals affected by osteopathia striata with cranial sclerosis (OS-CS). The fami..

Megaloblastic anaemia and pancytopenia secondary to prophylactic cotrimoxazole therapy.

H Tapp, R Savarirayan

Journal article  |  1997  |  Journal of Paediatrics and Child Health

Craniosynostosis in Roberts syndrome.

R Savarirayan, EM Thompson

Journal article  |  1997  |  Clinical Dysmorphology