|
2025 Journal Article Biomarkers in Ataxia-Telangiectasia: a Systematic ReviewTiet, M. Y., Guțu, B.-I., Springall-Jeggo, P., Coman, D., Willemsen, M., Van Os, N., Doria, M., Donath, H., Schubert, R., Dineen, R. A., Biagiotti, S., Prayle, A. P., Group, A. T. Biomarker Working, Hensiek, A. E. and Horvath, R. (2025). Biomarkers in Ataxia-Telangiectasia: a Systematic Review. Journal of Neurology, 272 (2) 110, 110-2. doi: 10.1007/s00415-024-12766-7 |
|
2024 Journal Article Urinary chloride excretion in critical illness and acute kidney injury: a paediatric hypothesis-generating cohort study post cardiopulmonary bypass surgeryMattke, Adrian C., Johnson, Kerry E., Ariyawansa, Krishanti, Trnka, Peter, Venugopal, Prem S., Coman, David, Schibler, Andreas and Gibbons, Kristen (2024). Urinary chloride excretion in critical illness and acute kidney injury: a paediatric hypothesis-generating cohort study post cardiopulmonary bypass surgery. Anaesthesia and Intensive Care, 52 (6) 310057X241265119, 1-10. doi: 10.1177/0310057X241265119 |
|
2024 Journal Article The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial DiagnosesRius, Rocio, Compton, Alison G., Baker, Naomi L., Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kirsten, Boughtwood, Tiffany, Braithwaite, Jeffrey, Bratkovic, Drago, Bray, Alessandra, Brion, Marie-Jo, Burke, Jo, Casauria, Sarah, Chong, Belinda, Coman, David, Cowie, Shannon, Cowley, Mark, de Silva, Michelle G., Delatycki, Martin B., Edwards, Samantha, Ellaway, Carolyn, Fahey, Michael C., Finlay, Keri, Fletcher, Janice, Frajman, Leah E., Frazier, Ann E., Gayevskiy, Velimir, Ghaoui, Roula ... Thorburn, David R. (2024). The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses. Genetics in Medicine, 27 (1) 101271, 101271. doi: 10.1016/j.gim.2024.101271 |
|
2024 Journal Article RNA variant assessment using transactivation and transdifferentiationNicolas-Martinez, Emmylou C., Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark A., Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare L., Scheffer, Ingrid E., Hildebrand, Michael S., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., Azmanov, Dimitar N. ... Cooper, Sandra T. (2024). RNA variant assessment using transactivation and transdifferentiation. American Journal of Human Genetics, 111 (8), 1673-1699. doi: 10.1016/j.ajhg.2024.06.018 |
|
2024 Journal Article Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, AustraliaDemetriou, Kalliope, Nisbet, Janelle, Coman, David, Ewing, Adam D., Phillips, Liza, Smith, Sally, Lipke, Michelle, Inwood, Anita, Spicer, Janette, Atthow, Catherine, Wilgen, Urs, Robertson, Thomas, McWhinney, Avis, Swenson, Rebecca, Espley, Brayden, Snowdon, Brianna, McGill, James J. and Summers, Kim M. (2024). Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia. Molecular Genetics and Metabolism, 142 (4) 108516, 1-14. doi: 10.1016/j.ymgme.2024.108516 |
|
2024 Journal Article De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeChen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Bernstein, Jonathan A., Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A. ... Whiffin, Nicola (2024). De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632 (8026), 832-840. doi: 10.1038/s41586-024-07773-7 |
|
2024 Journal Article Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific populationBernhardt, Isaac, Frajman, Leah E., Ryder, Bryony, Andersen, Erik, Wilson, Callum, McKeown, Colina, Anderson, Tim, Coman, David, Vincent, Andrea L., Buchanan, Christina, Roxburgh, Richard, Pitt, James, De Hora, Mark, Christodoulou, John, Thorburn, David R., Wilson, Francessa, Drake, Kylie M., Leask, Megan, Yardley, Anne-Marie, Merriman, Tony, Robertson, Stephen, Compton, Alison G. and Glamuzina, Emma (2024). Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population. Molecular Genetics and Metabolism, 142 (3) 108508, 1-10. doi: 10.1016/j.ymgme.2024.108508 |
|
2024 Journal Article Reduced protein import via TIM23 SORT drives disease pathology in TIMM50-associated mitochondrial diseaseCrameri, Jordan J., Palmer, Catherine S., Stait, Tegan, Jackson, Thomas D., Lynch, Matthew, Sinclair, Adriane, Frajman, Leah E., Compton, Alison G., Coman, David, Thorburn, David R., Frazier, Ann E. and Stojanovski, Diana (2024). Reduced protein import via TIM23 SORT drives disease pathology in TIMM50-associated mitochondrial disease. Molecular and Cellular Biology, 44 (6), 226-244. doi: 10.1080/10985549.2024.2353652 |
|
2024 Journal Article Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disabilityPérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark ... Callewaert, Bert (2024). Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. American Journal of Human Genetics, 111 (3), 509-528. doi: 10.1016/j.ajhg.2024.01.013 |
|
2024 Journal Article Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewPanis, Bianca, Vos, E. Naomi, Barić, Ivo, Bosch, Annet M., Brouwers, Martijn C. G. J., Burlina, Alberto, Cassiman, David, Coman, David J., Couce, María L., Das, Anibh M., Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D. K., Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, Murphy, Elaine, Õunap, Katrin, Pané, Adriana, Paci, Sabrina, Parini, Rossella, Rivera, Isabel A., Scholl-Bürgi, Sabine, Schwartz, Ida V. D., Sdogou, Triantafyllia, Shakerdi, Loai A. ... Rubio-Gozalbo, M. Estela (2024). Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in Genetics, 15 1355962, 1-11. doi: 10.3389/fgene.2024.1355962 |
|
2023 Journal Article Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international expertsNeves, Renata, De Dios Perez, Blanca, Panek, Rafal, Jagani, Sumit, Wilne, Sophie, Bhatt, Jayesh M., Caputi, Caterina, Cirillo, Emilia, Coman, David J., Dückers, Gregor, Gilbert, Donald L., Kay Koenig, Mary, Mansour, Lobna, McDermott, Elizabeth, Pauni, Micaela, Pignata, Claudio, Perlman, Susan L., Porras, Oscar, Betina Porto, Mariela, Schon, Katherine, Soler‐Palacin, Pere, Nick Russo, Sam, Takagi, Masatoshi, Tischkowitz, Marc, Wainwright, Claire, Dandapani, Madhumita, Glazebrook, Cristine, Suri, Mohnish, Whitehouse, William P. and Dineen, Robert A. (2023). Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts. Cancer Medicine, 12 (13), 14663-14673. doi: 10.1002/cam4.6075 |
|
2023 Journal Article Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsVogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel ... Wortmann, Saskia (2023). Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genetics in Medicine, 25 (6) 100314, 1-16. doi: 10.1016/j.gim.2022.09.015 |
|
2023 Journal Article Erratum: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (Genetics in Medicine (2023) 25(6), (S1098360022009534), (10.1016/j.gim.2022.09.015))Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel ... Wortmannd, Saskia (2023). Erratum: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (Genetics in Medicine (2023) 25(6), (S1098360022009534), (10.1016/j.gim.2022.09.015)). Genetics in Medicine, 25 (6) 100828, 100828. doi: 10.1016/j.gim.2023.100828 |
|
2023 Journal Article DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variantsVos, Niels, Reilly, Jack, Elting, Mariet W., Campeau, Philippe M., Coman, David, Stark, Zornitza, Tan, Tiong Yang, Amor, David J., Kaur, Simran, StJohn, Miya, Morgan, Angela T., Kamien, Benjamin A., Patel, Chirag, Tedder, Matthew L., Merla, Giuseppe, Prontera, Paolo, Castori, Marco, Muru, Kai, Collins, Felicity, Christodoulou, John, Smith, Janine, Zeev, Bruria Ben, Murgia, Alessandra, Leonardi, Emanuela, Esber, Natacha, Martinez-Monseny, Antonio, Casas-Alba, Didac, Wallis, Matthew, Mannens, Marcel ... Sadikovic, Bekim (2023). DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants. Epigenomics, 15 (6), 351-367. doi: 10.2217/epi-2023-0079 |
|
2023 Journal Article Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentKaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie and Morgan, Angela T. (2023). Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry, 28 (4), 1-3. doi: 10.1038/s41380-022-01879-y |
|
2022 Journal Article 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosisHertzog, Ashley, Selvanathan, Arthavan, Pandithan, Dinusha, Kim, Won-Tae, Kava, Maina P., Boneh, Avihu, Coman, David, Tolun, Adviye Ayper and Bhattacharya, Kaustuv (2022). 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis. JIMD Reports, 63 (6), 568-574. doi: 10.1002/jmd2.12332 |
|
2022 Journal Article Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutationsLeeson, Hannah C., Goh, Denise, Coman, David and Wolvetang, Ernst J. (2022). Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations. Stem Cell Research, 64 102917, 1-5. doi: 10.1016/j.scr.2022.102917 |
|
2022 Journal Article Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentKaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie and Morgan, Angela T. (2022). Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry, 28 (4), 1647-1663. doi: 10.1038/s41380-022-01764-8 |
|
2022 Journal Article N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case reportSelvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David and McGill, Jim (2022). N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report. JIMD Reports, 63 (5), 420-424. doi: 10.1002/jmd2.12318 |
|
2022 Journal Article Metabolic stress and mitochondrial dysfunction in ataxia-telangiectasiaSubramanian, Goutham Narayanan, Yeo, Abrey Jie, Gatei, Magtouf Hnaidi, Coman, David John and Lavin, Martin Francis (2022). Metabolic stress and mitochondrial dysfunction in ataxia-telangiectasia. Antioxidants, 11 (4) 653, 653. doi: 10.3390/antiox11040653 |
