David J Amor (D J Amor)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 55

Top Topics

Genome Wide Association

Dna Methylation

Myasthenia Gravis

Top Venues

Developmental medicine and child neurology

European journal of human genetics : EJHG

Journal of paediatrics and child health

Prenatal diagnosis

This page only lists publications with an associated author ORCID identifier.

Publications

Yan Meng, Stephanie Best, David J Amor, Ruth Braden, Angela T Morgan, Ilias Goranitis
The value of genomic testing in severe childhood speech disorders. European journal of human genetics : EJHG 32 (4) (2024)
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew Oetjens, Hermela Shimelis, Cora M Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, L Allach El Khattabi, Ingrid M B H van de Laar, Rafik Tadros, Connie R Bezzina, Marjon van Slegtenhorst, Janneke A E Kammeraad, Paolo Prontera, Jean-Hubert Caberg, Harry Fraser, Siddhartha Banka, Anke van Dijck, Charles Schwartz, Els Voorhoeve, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Mathilde Lefebvre, Kate Pope, Penny Snell, Amber Boys, Paul J Lockhart, Myla Ashfaq, Elizabeth McCready, Margaret Nowacyzk, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Maria Grazia Bruccheri, Giuseppa Maria Luana Mandarà, Francesca Mari, Flavia Privitera, Ilaria Longo, Aurora Currò, Alessandra Renieri, Boris Keren, Perrine Charles, Silvestre Cuinat, Mathilde Nizon, Olivier Pichon, Claire Beneteau, Radka Stoeva, Dominique Martin-Coignard, Sophia Blesson, Cedric Le Caignec, Sandra Mercier, Marie Vincent, Christa Lese Martin, Katrin Mannik, Alexandre Reymond, Laurence Olivier-Faivre, Erik A Sistermans, R Frank Kooy, David J Amor, Corrado Romano, Joris Andrieux, Santhosh D Girirajan
Genetic modifiers and ascertainment drive variable expressivity of complex disorders. medRxiv : the preprint server for health sciences (2024)
Sarah E Donoghue, David J Amor
Intellectual disability: A potentially treatable condition. Journal of paediatrics and child health (2024)
Yan Meng, Stephanie Best, David J Amor, Ruth Braden, Angela T Morgan, Ilias Goranitis
The value of genomic testing in severe childhood speech disorders. European journal of human genetics : EJHG (2024)
Sarah E Donoghue, David J Amor
Intellectual disability: A potentially treatable condition. Journal of paediatrics and child health 60 (7) (2024)
Daisy A Shepherd, David J Amor, Margarita Moreno-Betancur
Statistical analysis of observational studies in disability research. Developmental medicine and child neurology (2024)
Yan Meng, Stephanie Best, David J Amor, Ruth Braden, Angela T Morgan, Ilias Goranitis
The value of genomic testing in severe childhood speech disorders. European journal of human genetics : EJHG 32 (4) (2024)
Yan Meng, Stephanie Best, David J Amor, Ruth Braden, Angela T Morgan, Ilias Goranitis
The value of genomic testing in severe childhood speech disorders. European journal of human genetics : EJHG 32 (4) (2024)
Sarah E Donoghue, David J Amor
Intellectual disability: A potentially treatable condition. Journal of paediatrics and child health 60 (7) (2024)
Elana J Forbes, Lottie D Morison, Fatma Lelik, Tegan Howell, Simone Debono, Himanshu Goel, Pauline Burger, Jean-Louis Mandel, David Geneviève, David J Amor, Angela T Morgan
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (2024)
Andreas Cortese, Sarah Jane Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca Rose Grosz, Melina Ellis, Liam G Fearnley, Rick M Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B Delatycki, Elsdon Storey, Mac Gardner, David J Amor, Garth A Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason M Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, null null, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A Mclean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira W Deveson, Paul J Lockhart, Phillipa J Lamont, Michael Collingwood Fahey, Enrico Bugiardini, Gianina Ravenscroft
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications 15 (1) (2024)
Elana J Forbes, Lottie D Morison, Fatma Lelik, Tegan Howell, Simone Debono, Himanshu Goel, Pauline Burger, Jean-Louis Mandel, David Geneviève, David J Amor, Angela T Morgan
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 195 (6) (2024)
Monica S Cooper, Giuliana C Antolovich, Michael Collingwood Fahey, David J Amor
Hypotonic cerebral palsy. Child: care, health and development 50 (3) (2024)
Andreas Cortese, Sarah Jane Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca Rose Grosz, Melina Ellis, Liam G Fearnley, Rick M Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B Delatycki, Elsdon Storey, Mac Gardner, David J Amor, Garth A Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason M Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, null null, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A Mclean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira W Deveson, Paul J Lockhart, Phillipa J Lamont, Michael Collingwood Fahey, Enrico Bugiardini, Gianina Ravenscroft
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications 15 (1) (2024)
Erin Turbitt, Meg Bourne, Alison McEwen, David J Amor
Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study. Developmental medicine and child neurology 66 (7) (2023)
Linda M Reis, David J Amor, Raad A Haddad, Catherine B Nowak, Kim M Keppler-Noreuil, Smith Ann Chisholm, Elena V Semina
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum. Genes 14 (10) (2023)
Erin Turbitt, Meg Bourne, Alison McEwen, David J Amor
Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study. Developmental medicine and child neurology (2023)
Renée Smyth, Susan M Reid, Kate Paton, Angela T Guzys, Claire E Wakefield, David J Amor
Causation in cerebral palsy: Parental beliefs and associated emotions. Developmental medicine and child neurology (2023)
Mariana L Lauretta, Anna I Jarmolowicz, David J Amor, Stephanie Best, Angela T Morgan
An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech. Journal of speech, language, and hearing research : JSLHR (2023)
Sarah E Horton, Victoria Jackson, Jessica O Boyce, Marie-Christine J P Franken, Stephanie Siemers, Miya St John, Stephen Hearps, Olivia van Reyk, Ruth Braden, Richard Parker, Adam P Vogel, Else Eising, David J Amor, Janelle Irvine, Simon E Fisher, Nicholas G Martin, Sheena Reilly, Melanie Bahlo, Ingrid Scheffer, Angela T Morgan
Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering. Journal of speech, language, and hearing research : JSLHR (2023)
Antony Kaspi, Michael Stephen Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E Fisher, David J Amor, Ingrid Eileen Scheffer, Melanie Bahlo, Angela T Morgan
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular psychiatry (2023)
Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J Amor, Greg B Peters, Michael J Field, Tracy Dudding
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance. Clinical genetics (2023)
Antony Kaspi, Michael Stephen Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E Fisher, David J Amor, Ingrid Eileen Scheffer, Melanie Bahlo, Angela T Morgan
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular psychiatry (2023)
Erin Turbitt, Meg Bourne, Alison McEwen, David J Amor
Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study. Developmental medicine and child neurology 66 (7) (2023)
David E Godler, Yoshimi Inaba, Minh Q Bui, David Francis, Cindy D Skinner, Charles E Schwartz, David J Amor
Defining the 3'Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome. International journal of molecular sciences 24 (13) (2023)
Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J Amor, Greg B Peters, Michael J Field, Tracy Dudding
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance. Clinical genetics (2023)
Emma K Baker, Marta Arpone, Minh Q Bui, Claudine M Kraan, Ling Ling, David Francis, Matthew Frank Hunter, Carolyn Rogers, Michael J Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M Alliende, David J Amor, David E Godler
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome. American journal of medical genetics. Part A (2022)
Sarah R Catford, J Halliday, S Lewis, Brendan J Houston, David J Handelsman, Roger J Hart, J McBain, L Rombauts, David J Amor, Richard Saffery, R I McLachlan
The metabolic health of young men conceived using intracytoplasmic sperm injection. Human reproduction (Oxford, England) 37 (12) (2022)
Miya St John, David J Amor, Angela T Morgan
Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome. American journal of medical genetics. Part A 188 (12) (2022)
Antony Kaspi, Michael Stephen Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E Fisher, David J Amor, Ingrid Eileen Scheffer, Melanie Bahlo, Angela T Morgan
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular psychiatry (2022)
Jessica O Boyce, Victoria E Jackson, Olivia van Reyk, Richard Parker, Adam P Vogel, Else Eising, Sarah E Horton, Nathan A Gillespie, Ingrid Eileen Scheffer, David J Amor, Michael S Hildebrand, Simon E Fisher, Nicholas G Martin, Sheena Reilly, Melanie Bahlo, Angela T Morgan
Self-reported impact of developmental stuttering across the lifespan. Developmental medicine and child neurology 64 (10) (2022)
Jacqueline Anne Boyle, Kirsten I Black, Edwina Dorney, David J Amor, Louise Brown, Emily Callander, Renea Camilleri, Kate Cheney, Adrienne Gordon, Karin Hammarberg, Dheepa Jeyapalan, Deana Leahy, Jo Millard, Catherine Mills, Loretta Musgrave, Robert J Norman, Claire O'Brien, Vijay Roach, Helen Skouteris, Amie Steel, Sue Walker, Ruth Elizabeth Walker
Setting Preconception Care Priorities in Australia Using a Delphi Technique. Seminars in reproductive medicine 40 (3-04) (2022)
David I Francis, Zornitza Stark, Ingrid E Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J Amor, Himanshu Goel, Lilian Downie, Chloe A Stutterd, Emma I Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. European journal of human genetics : EJHG (2022)
Alex Polyakov, David J Amor, Julian Savulescu, Christopher Gyngell, Ektoras X Georgiou, Vanessa Ross, Yossi Mizrachi, Genia Rozen
Polygenic risk score for embryo selection-not ready for prime time. Human reproduction (Oxford, England) 37 (10) (2022)
Danya Vears, David J Amor
A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom? Prenatal diagnosis 42 (6) (2022)
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard, Claire Ewenczyk, Kayli C Davies, Patricia Lino-Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan Robert E Ansell, Ivo van der Stelt, Katherine B Howell, Marie Coutelier, David J Amor, Emeline Mundwiller, Lena Guillot-Noël, Elsdon Storey, R J McKinlay Gardner, Mathew J Wallis, Alfredo Brusco, Olga Corti, Agnes Rotig, Richard J Leventer, Alexis Brice, Martin B Delatycki, Giovanni Stevanin, Paul J Lockhart, Alexandra Dürr
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Annals of neurology 92 (1) (2022)
Louise E Wilkins-Haug, David J Amor, Julian Savulescu
ISPD 2021 debate - All in vitro fertilization cycles should involve pre-implantation genetic testing to improve fetal health and pregnancy outcomes. Prenatal diagnosis 42 (8) (2022)
Karin Hammarberg, Jane Halliday, Joanne Kennedy, David P Burgner, David J Amor, Lex W Doyle, Markus Juonala, Sarath Ranganathan, Liam Welsh, Michael Cheung, Robert McLachlan, John McBain, Sharon Lewis
Does being conceived by assisted reproductive technology influence adult quality of life? Human fertility (Cambridge, England) (2022)
Alan Sl Ma, John R Grigg, Maree Flaherty, James Smith, Andre E Minoche, Mark J Cowley, Benjamin M Nash, Gladys Ho, Thet Gayagay, Tiffany Lai, Elizabeth Farnsworth, Emma L Hackett, Katrina Slater, Karen Wong, Katherine J Holman, Gemma Jenkins, Anson Cheng, Frank Martin, Natasha J Brown, Sarah E Leighton, David J Amor, Himanshu Goel, Marcel E Dinger, Bruce Bennetts, Robyn V Jamieson
Genome sequencing in congenital cataracts improves diagnostic yield. Human mutation 42 (9) (2021)
Hilary Bowman-Smart, Christopher Gyngell, Cara Mand, David J Amor, Martin B Delatycki, Julian Savulescu
Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making. The American journal of bioethics : AJOB (2021)
Ruth O Braden, David J Amor, Simon E Fisher, Cristina Mei, Candace T Myers, Heather Mefford, Deepak Gill, Siddharth Srivastava, Lindsay C Swanson, Himanshu Goel, Ingrid Eileen Scheffer, Angela T Morgan
Severe speech impairment is a distinguishing feature of FOXP1-related disorder. Developmental medicine and child neurology 63 (12) (2021)
Monique Peris, Susan M Reid, Stephen Dobie, Leo Bonacquisto, Daisy A Shepherd, David J Amor
Second trimester maternal serum biomarkers and the risk of cerebral palsy. Prenatal diagnosis 41 (9) (2021)
Claudine M Kraan, Emma K Baker, Marta Arpone, Minh Q Bui, Ling Ling, Dinusha Gamage, Lesley Bretherton, Carolyn Rogers, Michael J Field, Tiffany L Wotton, David Francis, Matthew Frank Hunter, Jonathan Cohen, David J Amor, David E Godler
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome. International journal of molecular sciences 21 (20) (2020)
Monique Peris, Susan M Reid, Stephen Dobie, Leo Bonacquisto, Daisy A Shepherd, David J Amor
First-trimester maternal serum biomarkers and the risk of cerebral palsy. Developmental medicine and child neurology 63 (2) (2020)
Emma K Baker, Merlin G Butler, Samantha N Hartin, Ling Ling, Minh Bui, David Francis, Carolyn Rogers, Michael J Field, Jennie Slee, Dinusha Gamage, David J Amor, David E Godler
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders. Translational psychiatry 10 (1) (2020)
Daisy A Shepherd, Niels Vos, Susan M Reid, David E Godler, Angela Guzys, Margarita Moreno-Betancur, David J Amor
Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome. Genes 11 (7) (2020)
Giulia M Valente, David J Amor, Liane J Ioannou, Alison Dalton Archibald
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis. The Australian & New Zealand journal of obstetrics & gynaecology 61 (2) (2020)
Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Anna Jarmolowicz, David J Amor
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project. Genetics in medicine : official journal of the American College of Medical Genetics 22 (5) (2020)
Sarah R Catford, S Lewis, J Halliday, J Kennedy, Brendan J Houston, J McBain, David J Amor, L Rombauts, Richard Saffery, R J Hart, R I McLachlan
Health and fertility of ICSI-conceived young men: study protocol. Human reproduction open 2020 (4) (2020)
Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael Collingwood Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Yang Tan, David R Thorburn, John Chrisodoulou
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. Journal of clinical medicine 8 (11) (2019)
Jessica O Boyce, Katherine Sanchez, David J Amor, Sheena Reilly, Annette Da Costa, Nicky Kilpatrick, Angela T Morgan
Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report. International journal of language & communication disorders 54 (5) (2019)
Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew F Hunter, Kerryn Saunders, Elizabeth Rose, Sharon Lewis, Anna Jarmolowicz, Dean Phelan, Heidi L Rehm, null null, David J Amor
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study. European journal of human genetics : EJHG 28 (5) (2019)
Kamal Khan, Michael Zech, Angela T Morgan, David J Amor, Matej Skorvanek, Tahir N Khan, Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Matthew Coleman, Kristin A Rigbye, Ingrid Eileen Scheffer, Melanie Bahlo, Matias Wagner, Daniel D Lam, Riccardo Berutti, Petra Havránková, Anna Fečíková, Tim M Strom, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R Mooney, Shahid Mahmood Baig, Robert Jech, Erica E Davis, Nicholas Katsanis, Juliane Winkelmann
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Claudine M Kraan, David E Godler, David J Amor
Epigenetics of fragile X syndrome and fragile X-related disorders. Developmental medicine and child neurology 61 (2) (2018)
David J Amor, Annabelle Kerr, Nandini Somanathan, Alison McEwen, Marianne Tome, Jan Hodgson, Sharon Lewis
Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors. Reproductive health 15 (1) (2018)