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1

Progress in rare diseases research 2010-2016: an IRDiRC perspective

Dawkins, Hugh JS, Draghia-Akli, Ruxandra, Lasko, Paul, Lau, Lilian PL, Jonker, Anneliene H, Cutillo, Christine M, Rath, Ana, Boycott, Kym M, Baynam, Gareth, Lochmüller, Hanns, Kaufmann, Petra, Cam, Ya

Journal:

Clinical and Translational Science

Year:

2017

Language:

english

File:

PDF, 1.32 MB

english, 2017

2

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

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

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 167 KB

2020

3

TheIFITM5mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

Lazarus, Syndia, McInerney-Leo, Aideen M, McKenzie, Fiona A, Baynam, Gareth, Broley, Stephanie, Cavan, Barbra V, Munns, Craig F, Pruijs, Johannes Egbertus, Sillence, David, Terhal, Paulien A, Pryce, K

Journal:

BMC Musculoskeletal Disorders

Year:

2014

Language:

english

File:

PDF, 193 KB

english, 2014

4

The Human Phenotype Ontology in 2017

Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Busk

Journal:

Nucleic Acids Research

Year:

2017

Language:

english

File:

PDF, 841 KB

english, 2017

5

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Walker, C

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 647 KB

english, 2016

6

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome

Gareth Baynam, Jack Goldblatt, Ian Walpole

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 129 KB

english, 2008

7

A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

Gareth Baynam, Nicholas Smith, Jack Goldblatt

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 54 KB

english, 2008

8

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation

Gareth Baynam, Jack Goldblatt, Lyn Schofield

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 101 KB

english, 2009

9

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

Gareth Baynam, Cathy Kiraly-Borri, Jack Goldblatt, Jan E. Dickinson, Gareth P. Jevon, Angela Overkov

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

10

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elcioglu, Michael T. Gabbett, Louanne Hudgins, Jane A. Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O. M. Wilkie

Journal:

Year:

2011

Language:

english

File:

PDF, 422 KB

english, 2011

11

Extending the phenotypes associated with DICER1 mutations

William D. Foulkes, Amin Bahubeshi, Nancy Hamel, Barbara Pasini, Sofia Asioli, Gareth Baynam, Catherine S. Choong, Adrian Charles, Richard P. Frieder, Megan K. Dishop, Nicole Graf, Mesiha Ekim, Doroth

Journal:

Year:

2011

Language:

english

File:

PDF, 136 KB

english, 2011

12

45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships

Gareth Baynam, Jack Goldblatt

Journal:

Journal of Maxillofacial and Oral Surgery

Year:

2009

Language:

english

File:

PDF, 68 KB

english, 2009

13

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

Taru Ahvenainen, Heli J. Lehtonen, Rainer Lehtonen, Pia Vahteristo, Kristiina Aittomäki, Gareth Baynam, Charlotte Dommering, Charis Eng, Stephen B. Gruber, Henrik Grönberg, Rauno Harvima, Riitta Herva

Journal:

Cancer Genetics and Cytogenetics

Year:

2008

Language:

english

File:

PDF, 555 KB

english, 2008

14

Sexual dimorphism in multiple aspects of 3D facial symmetry and asymmetry defined by spatially dense geometric morphometrics

Peter Claes, Mark Walters, Mark D. Shriver, David Puts, Greg Gibson, John Clement, Gareth Baynam, Geert Verbeke, Dirk Vandermeulen, Paul Suetens

Journal:

Journal of Anatomy

Year:

2012

Language:

english

File:

PDF, 16.99 MB

english, 2012

15

Impact of genetic variants in IL-4, IL-4 RA and IL-13 on the anti-pneumococcal antibody response

Selma P. Wiertsema, Gareth Baynam, Siew-Kim Khoo, Reinier H. Veenhoven, Niels van Heerbeek, Guicheng Zhang, Ingrid A. Laing, Ger T. Rijkers, Jack Goldblatt, Elisabeth A.M. Sanders, Peter N. Le Souëf

Journal:

Year:

2007

Language:

english

File:

PDF, 267 KB

english, 2007

16

Gender-specific effects of cytokine gene polymorphisms on childhood vaccine responses

Gareth Baynam, Guicheng Zhang, Siew-Kim Khoo, Peter Sly, Patrick Holt, Jack Goldblatt, Peter N. Le Souëf

Journal:

Year:

2008

Language:

english

File:

PDF, 331 KB

english, 2008

17

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gi

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

18

The Facial Evolution: Looking Backward and Moving Forward

Baynam, Gareth, Walters, Mark, Claes, Peter, Kung, Stefanie, LeSouef, Peter, Dawkins, Hugh, Gillett, David, Goldblatt, Jack

Journal:

Year:

2013

Language:

english

File:

PDF, 319 KB

english, 2013

19

Parental smoking impairs vaccine responses in children with atopic genotypes

Baynam, Gareth, Khoo, Siew-Kim, Rowe, Julie, Zhang, Guicheng, Laing, Ingrid, Hayden, Catherine, Kusel, Merci, DeKlerk, Nick, Sly, Peter, Goldblatt, Jack, Holt, Patrick, LeSouef, Peter

Journal:

Journal of Allergy and Clinical Immunology

Year:

2007

Language:

english

File:

PDF, 261 KB

english, 2007

20

Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2013

Language:

english

File:

PDF, 323 KB

english, 2013

21

Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

Bellgard, Matthew I., Sleeman, Mark W., Guerrero, Felix D., Fletcher, Sue, Baynam, Gareth, Goldblatt, Jack, Rubinstein, Yaffa, Bell, Callum, Groft, Stephen, Barrero, Roberto, Bittles, Alan H., Wilton,

Journal:

Health Policy and Technology

Year:

2014

Language:

english

File:

PDF, 636 KB

english, 2014

22

Multinodular Goiter in Children: An Important Pointer to a Germline DICER1 Mutation

Rath, Shoshana R., Bartley, Anthony, Charles, Adrian, Powers, Neil, Baynam, Gareth, Jones, Timothy, Priest, John R., Foulkes, William D., Choong, Catherine S. Y.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 263 KB

english, 2014

23

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome

Abraham, Mary B, Carpenter, Karen, Baynam, Gareth S, Mackay, Deborah JG, Price, Glynis, Choong, Catherine S

Journal:

Journal of Paediatrics and Child Health

Year:

2015

Language:

english

File:

PDF, 367 KB

english, 2015

24

A boy with hand anomalies similar to those documented with prenatal misoprostol exposure

Baynam, Gareth S., Gonzalez, Claudette, Temtamy, Samia A.

Journal:

Middle East Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 426 KB

english, 2013

25

Overexpression of Aromatase Associated With Loss of Heterozygosity of the STK11 Gene Accounts for Prepubertal Gynecomastia in Boys with Peutz-Jeghers Syndrome

Ham, Seungmin, Meachem, Sarah J., Choong, Catherine S., Charles, Adrian K., Baynam, Gareth S., Jones, Timothy W., Samarajeewa, Nirukshi U., Simpson, Evan R., Brown, Kristy A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 4.73 MB

english, 2013

26

Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis

Baynam, Gareth, Claes, Peter, Craig, Jeffrey M., Goldblatt, Jack, Kung, Stefanie, Le Souef, Peter, Walters, Mark

Journal:

Twin Research and Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.54 MB

english, 2011

27

Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis

Baynam, Gareth S., Walters, Mark, Dawkins, Hugh, Bellgard, Matthew, Halbert, Anne R., Claes, Peter

Journal:

Twin Research and Human Genetics

Year:

2013

Language:

english

File:

PDF, 361 KB

english, 2013

28

A Child With an FGFR3 Mutation, a Laterality Disorder and an Hepatoblastoma: Novel Associations and Possible Gene–Environment Interactions

Baynam, Gareth S., Goldblatt, Jack

Journal:

Twin Research and Human Genetics

Year:

2010

Language:

english

File:

PDF, 494 KB

english, 2010

29

Erratum to: Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2014

Language:

english

File:

PDF, 97 KB

english, 2014

30

Current trends in biobanking for rare diseases: a review [Corrigendum]

Graham, Caroline, Dawkins, Hugh, Baynam, Gareth, Lockmuller, Hanns, Bushby, Kate, Monaco, Lucia, Zatloukal, Kurt, Rubinstein, Yaffa, Mora, Marina, Knoppers, Bartha Maria, Terry, Sharon, Hansson, Mats,

Journal:

Journal of Biorepository Science for Applied Medicine

Year:

2015

Language:

english

File:

PDF, 83 KB

english, 2015

31

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

Groza, Tudor, Köhler, Sebastian, Moldenhauer, Dawid, Vasilevsky, Nicole, Baynam, Gareth, Zemojtel, Tomasz, Schriml, Lynn Marie, Kibbe, Warren Alden, Schofield, Paul N., Beck, Tim, Vasant, Drashtti, Br

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.85 MB

english, 2015

32

Phenotyping: Targeting genotype's rich cousin for diagnosis

Baynam, Gareth, Walters, Mark, Claes, Peter, Kung, Stefanie, LeSouef, Peter, Dawkins, Hugh, Bellgard, Matthew, Girdea, Marta, Brudno, Michael, Robinson, Peter, Zankl, Andreas, Groza, Tudor, Gillett, D

Journal:

Journal of Paediatrics and Child Health

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

33

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Taruscio, Domenica, Groft, Stephen C., Cederroth, Helene, Melegh, Béla, Lasko, Paul, Kosaki, Kenjiro, Baynam, Gareth, McCray, Alexa, Gahl, William A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 167 KB

english, 2015

34

Facial diagknowsis

Journal:

Year:

2016

Language:

english

File:

PDF, 34 KB

english, 2016

35

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

Baynam, Gareth, Overkov, Angela, Davis, Mark, Mina, Kym, Schofield, Lyn, Allcock, Richard, Laing, Nigel, Cook, Matthew, Dawkins, Hugh, Goldblatt, Jack

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 2.59 MB

english, 2015

36

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

Baynam, Gareth, Goldblatt, Jack, Townshend, Sharron

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 86 KB

english, 2006

37

Follicular thyroid carcinoma in a child presenting as autonomously functioning thyroid nodule

Joshi, Kiranjit, Sim, George, Lannigan, Francis, Frost, Felicity, Kumarsinghe, Priyanthi, Thomas, Elizabeth, Price, Glynis, Nguyen, Hieu, Baynam, Gareth, Charles, Adrien, Choong, Catherine

Journal:

International Journal of Pediatric Endocrinology

Year:

2015

Language:

english

File:

PDF, 641 KB

english, 2015

38

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

Walker, Caroline E., Mahede, Trinity, Davis, Geoff, Miller, Laura J., Girschik, Jennifer, Brameld, Kate, Sun, Wenxing, Rath, Ana, Aymé, Ségolène, Zubrick, Stephen R., Baynam, Gareth S., Molster, Caron

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 651 KB

english, 2016

39

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

Lochmüller, Hanns, Le Cam, Yann, Jonker, Anneliene H, Lau, Lilian PL, Baynam, Gareth, Kaufmann, Petra, Lasko, Paul, Dawkins, Hugh JS, Austin, Christopher P, Boycott, Kym M

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 146 KB

english, 2017

40

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M.,

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 677 KB

english, 2017

41

New Opportunities for Evidence in Fetal Alcohol Spectrum Disorder

Bower, Carol, Baynam, Gareth

Journal:

JAMA Pediatrics

Year:

2017

Language:

english

File:

PDF, 106 KB

english, 2017

42

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

Lochmüller, Hanns, Torrent i Farnell, Josep, Le Cam, Yann, Jonker, Anneliene H, Lau, Lilian PL, Baynam, Gareth, Kaufmann, Petra, Dawkins, Hugh JS, Lasko, Paul, Austin, Christopher P, Boycott, Kym M

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 878 KB

english, 2017

43

A review of structural brain abnormalities in Pallister-Killian syndrome

Poulton, Cathryn, Baynam, Gareth, Yates, Clarissa, Alinejad-Rokny, Hamid, Williams, Simon, Wright, Helen, Woodward, Karen J., Sivamoorthy, Soruba, Peverall, Joanne, Shipman, Peter, Ravine, David, Beil

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 962 KB

english, 2017

44

Cerebral palsy and genomics: an international consortium

MacLennan, Alastair H, Kruer, Michael C, Baynam, Gareth, Moreno-De-Luca, Andres, Wilson, Yana A, Zhu, Changlian, Wintle, Richard F, Gecz, Jozef

Journal:

Developmental Medicine & Child Neurology

Year:

2018

Language:

english

File:

PDF, 158 KB

english, 2018

45

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.

Journal:

Molecular Syndromology

Year:

2018

Language:

english

File:

PDF, 254 KB

english, 2018

46

Incidental inequity

Nowak, Kristen J., Bauskis, Alicia, Dawkins, Hugh J., Baynam, Gareth

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 231 KB

english, 2018

47

3-Dimensional Facial Analysis—Facing Precision Public Health

Baynam, Gareth, Bauskis, Alicia, Pachter, Nicholas, Schofield, Lyn, Verhoef, Hedwig, Palmer, Richard L., Kung, Stefanie, Helmholz, Petra, Ridout, Michael, Walker, Caroline E., Hawkins, Anne, Goldblatt

Journal:

Frontiers in Public Health

Year:

2017

Language:

english

File:

PDF, 343 KB

english, 2017

48

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

Molster, Caron M., Lister, Karla, Metternick-Jones, Selina, Baynam, Gareth, Clarke, Angus John, Straub, Volker, Dawkins, Hugh J. S., Laing, Nigel

Journal:

Frontiers in Public Health

Year:

2017

Language:

english

File:

PDF, 232 KB

english, 2017

49

Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for Australians

Bilkey, Gemma A., Baynam, Gareth, Molster, Caron

Journal:

Frontiers in Public Health

Year:

2018

Language:

english

File:

PDF, 179 KB

english, 2018

50

Editorial: Precision Public Health

Weeramanthri, Tarun Stephen, Dawkins, Hugh J. S., Baynam, Gareth, Bellgard, Matthew, Gudes, Ori, Semmens, James Bernard

Journal:

Frontiers in Public Health

Year:

2018

Language:

english

File:

PDF, 132 KB

english, 2018