David Amor

The impact of coding germline variants on contralateral breast cancer risk and survival.

Anna Morra, Nasim Mavaddat, Taru A Muranen, Thomas U Ahearn, Jamie Allen, Irene L Andrulis, Päivi Auvinen, Heiko Becher, Sabine Behrens, Carl Blomqvist, Stig E Bojesen, Manjeet K Bolla, Hiltrud Brauch, Nicola J Camp, Sara Carvalho, Jose E Castelao, Melissa H Cessna, Jenny Chang-Claude, Georgia Chenevix-Trench, undefined NBCS Collaborators, et al.

Journal article  |  2023  |  Am J Hum Genet

Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contr..

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance

Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J Amor, Greg B Peters, Michael Field, Tracy Dudding-Byth

Journal article  |  2023  |  CLINICAL GENETICS

The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb..

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development(jan, 10.1038/s41380022-01764-8, 2023)

Antony Kaspi, Michael S 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, et al.

Journal article  |  2023  |  MOLECULAR PSYCHIATRY

Wording was altered for the discussion. Only two probands (11%) with genetic diagnoses (SETD1B (ID10), ERF (ID18)) had CAS without..

CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases

Lottie DD Morison, Olivia Van Reyk, Elana Forbes, Flavien Rouxel, Laurence Faivre, Fiona Bruinsma, Marie Vincent, Marie-Line Jacquemont, Natalie LL Dykzeul, David Genevieve, David JJ Amor, Angela TT Morgan

Journal article  |  2023  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Speech and language impairments are central features of CDK13-related disorder. While pathogenic CDK13 variants have been associat..

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne O'Donnell-Luria, undefined Broad Institute Center for Mendelian Genomics, Milena Babic, Mahalia SB Frank, Jinghua Feng, Paul Wang, David M Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen, undefined Genomic Autopsy Study Research Network, George McGillivray, Jason Pinner, Fiona McKenzie, et al.

Journal article  |  2023  |  Nat Med

Pregnancy loss and perinatal death are devastating events for families. We assessed 'genomic autopsy' as an adjunct to standard au..

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature

Miya St John, Olivia van Reyk, David A Koolen, Bert BA de Vries, David J Amor, Angela T Morgan

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Speech and language impairment is core in Koolen-de Vries syndrome (KdVS), yet only one study has examined this empirically. Here ..

Agreement between parents? and clinical researchers? ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders

Marta Arpone, Lesley Bretherton, David J Amor, Stephen JC Hearps, Carolyn Rogers, Michael J Field, Matthew F Hunter, Lorena Santa Maria, Angelica M Alliende, Jennie Slee, David E Godler, Emma K Baker

Journal article  |  2022  |  RESEARCH IN DEVELOPMENTAL DISABILITIES

BACKGROUND: Despite the increasing number of clinical trials involving children with neurodevelopmental disorders, appropriate and..

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

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, et al.

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic co..

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

Emma K Baker, Marta Arpone, Bui Minh, Claudine M Kraan, Ling Ling, David Francis, Mathew F Hunter, Carolyn Rogers, Michael J Field, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M Alliende, David J Amor, David E Godler

Journal article  |  2022  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]..

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Sayaka Kayumi, Luis A Perez-Jurado, Maria Palomares, Sneha Rangu, Sarah E Sheppard, Wendy K Chung, Michael C Kruer, Mira Kharbanda, David J Amor, George McGillivray, Julie S Cohen, Sixto Garcia-Minaur, Clare L van Eyk, Kelly Harper, Lachlan A Jolly, Dani L Webber, Christopher P Barnett, Fernando Santos-Simarro, Marta Pacio-Miguez, Angela del Pozo, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (..