Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Ewans, Lj"'
Autor:
Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Contains fulltext : 174530.pdf (Publisher’s version ) (Open Access) Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e98c19065714c6dc4dc463a87aed674
https://pubmed.ncbi.nlm.nih.gov/27240531
https://pubmed.ncbi.nlm.nih.gov/27240531
Autor:
Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia., Shrestha R; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Zhu Y; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Zhang F; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Standen K; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Ma A; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Ghedia S; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia; Northern Clinical School, Royal North Shore Hospital, Sydney, NSW, Australia., Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sandaradura SA; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia., Smith J; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Kamien B; Genetic Services of Western Australia, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia., Adès LC; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia., Regan M; Monash Genetics, Monash Health, Melbourne, VIC, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Savarirayan R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Institut Hospital del Mar d'Investigacions Mediques (IMIM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain; Women's and Children's Hospital, South Australian Health and Medical Research Institute & University of Adelaide, Adelaide, SA, Australia., Krzesinski E; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Akesson L; Melbourne Pathology, Melbourne, VIC, Australia; Department of Pathology, The Royal Melbourne Hospital, Melbourne, VIC, Australia; Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia., Fennell AP; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Boughtwood T; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia., Ewans LJ; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia., Kerkhof J; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada., Lucas C; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Carey L; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., French H; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Rapadas M; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia., Cliffe C; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Elakis G; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Kirk EP; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia., Dudding-Byth T; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Fletcher J; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Walsh R; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Corbett MA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia., Kroes T; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Meldrum C; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia., Cliffe S; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia., Wall M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., North K; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia; Global Alliance for Genomics and Health, Toronto, ON, Canada., Amor DJ; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Field M; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Sadikovic B; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Roscioli T; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia. Electronic address: tony.roscioli@health.nsw.gov.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101076. Date of Electronic Publication: 2024 Jan 19.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Autor:
Ewans LJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. lisa.ewans@gmail.com., Minoche AE; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Shrestha R; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Puttick C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Zhu Y; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Drew A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Elakis G; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Walsh C; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Adès LC; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Colley A; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Ellaway C; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Evans CA; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia., Freckmann ML; Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia., Goodwin L; Genetics Services, Nepean Hospital, Sydney, NSW, Australia., Hackett A; The Genetics of Learning Disability Service, Newcastle, NSW, Australia., Kamien B; Hunter Genetics, Newcastle, NSW, Australia., Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Lipke M; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Queensland Children's Hospital, Brisbane, QLD, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Palmer E; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Rajagopalan S; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Ronan A; Hunter Genetics, Newcastle, NSW, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Stevenson W; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Worgan L; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Morel-Kopp MC; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia., Field M; The Genetics of Learning Disability Service, Newcastle, NSW, Australia., Buckley MF; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Cowley MJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Dinger ME; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.dinger@unsw.edu.au.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia. m.dinger@unsw.edu.au., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia. tony.roscioli@health.nsw.gov.au.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Oct; Vol. 30 (10), pp. 1121-1131. Date of Electronic Publication: 2022 Aug 15.
Autor:
Bournazos AM; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Riley LG; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia., Bommireddipalli S; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Ades L; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Akesson LS; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Al-Shinnag M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia; The University of Queensland, Herston, Queensland, Australia., Alexander SI; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Archibald AD; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Balasubramaniam S; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Northern Clinical School, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Beshay V; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Boggs K; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Australian Genomics Health Alliance, Parkville, Victoria, Australia; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Bojadzieva J; Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia., Brown NJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Bryen SJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Buckley MF; NSW Health Pathology, Randwick, New South Wales, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Dawes R; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Delatycki M; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Donaldson L; The Royal Melbourne Hospital, Parkville, Victoria, Australia., Downie L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Edwards C; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Edwards M; Department of Paediatrics, School of Medicine, Western Sydney University, Penrith South, New South Wales, Australia., Engel A; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia., Ewans LJ; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Central Clinical School, The University of Sydney, Camperdown, New South Wales, Australia., Faiz F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Fennell A; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Garran, ACT, Australia., Gallacher L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Gear R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Goel H; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia; The University of Newcastle, Callaghan, New South Wales, Australia., Goh S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Goodwin L; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia., Hanna B; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Harraway J; Sullivan Nicolaides Pathology, Bowen Hills, Queensland, Australia., Higgins M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Ho G; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Hopper BK; Forster Genetics, Forster, New South Wales, Australia., Horton AE; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Monash Heart and Monash Children's Hospital, Monash Health, Clayton, Victoria, Australia; Monash Cardiovascular Research Centre, Clayton, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Huq AJ; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Joshi H; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Kirk E; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia., Krzesinski E; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Kumar KR; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, New South Wales, Australia., Lemckert F; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Leventer RJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia., Lindsey-Temple SE; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Lunke S; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Ma A; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Macaskill S; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Mallawaarachchi A; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Marty M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Marum JE; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., McCarthy HJ; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Menezes MP; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., McLean A; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Milnes D; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Mohammad S; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Mowat D; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Niaz A; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia., Palmer EE; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Patel SG; School of Medicine, The University of Auckland, Auckland, New Zealand., Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Pinner JR; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Regan M; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Rodgers J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Rodrigues M; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Roxburgh RH; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Sachdev R; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia., Roscioli T; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia, University of New South Wales, Randwick, New South Wales, Australia., Samarasekera R; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Sandaradura SA; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Schindler T; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia; Newborn Care, Royal Hospital for Women, Randwick, New South Wales, Australia., Shah M; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Sinnerbrink IB; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia., Smith JM; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Smith RJ; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, United States., Springer A; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Strom SP; Fulgent Genetics, Temple City, CA., Sue CM; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Tan K; Department of Paediatrics, Monash University, Clayton, Victoria, Australia; Monash Newborn, Monash Children's Hospital, Clayton, Victoria, Australia., Tan TY; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Tantsis E; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Tchan MC; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Thompson BA; Department of Pathology, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Clinical Pathology, University of Melbourne, Parkville, Victoria, Australia., Trainer AH; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia., van Spaendonck-Zwarts K; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Walsh R; NSW Health Pathology, Randwick, New South Wales, Australia., Warwick L; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia., White S; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., White SM; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Williams MG; Mater Research Institute, The University of Queensland, South Brisbane, Queensland, Australia., Wilson MJ; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Wong WK; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Wright DC; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Cytogenetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Yap P; Northern Hub, Genetic Health Service NZ, Auckland, New Zealand., Yeung A; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Young H; Department of Intensive Care, Austin Hospital, Heidelberg, Victoria, Australia., Jones KJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Bennetts B; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The Children's Medical Research Institute, Westmead, New South Wales, Australia. Electronic address: sandra.cooper@sydney.edu.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 130-145. Date of Electronic Publication: 2021 Nov 30.
Autor:
Field MJ; NSW Genetics of Learning Disability Service, Newcastle, New South Wales, Australia., Kumar R; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia., Hackett A; NSW Genetics of Learning Disability Service, Newcastle, New South Wales, Australia.; School of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, New South Wales, Australia., Kayumi S; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia., Shoubridge CA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia., Ewans LJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Ivancevic AM; Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, Colorado, USA., Dudding-Byth T; NSW Genetics of Learning Disability Service, Newcastle, New South Wales, Australia.; School of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, New South Wales, Australia., Carroll R; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia., Kroes T; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia., Gardner AE; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia., Sullivan P; Children's Cancer Institute, University of New South Wales, Kensington, New South Wales, Australia., Ha TT; Molecular Pathology Department, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia., Schwartz CE; Greenwood Genetics Centre, Greenwood, South Carolina, USA., Cowley MJ; NSW Genetics of Learning Disability Service, Newcastle, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Children's Cancer Institute, University of New South Wales, Kensington, New South Wales, Australia., Dinger ME; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Kensington, New South Wales, Australia., Palmer EE; NSW Genetics of Learning Disability Service, Newcastle, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Kensington, Sydney, New South Wales, Australia., Christie L; NSW Genetics of Learning Disability Service, Newcastle, New South Wales, Australia., Shaw M; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia., Roscioli T; NeuRA, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Corbett MA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.
Publikováno v:
Human mutation [Hum Mutat] 2021 Jul; Vol. 42 (7), pp. 835-847. Date of Electronic Publication: 2021 May 03.
Autor:
Bryen SJ; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Ewans LJ; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.; Central Clinical School, University of Sydney, Sydney, New South Wales, Australia., Pinner J; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, 2031, Australia., MacLennan SC; Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia., Donkervoort S; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Castro D; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas., Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., O'Grady G; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Cummings B; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Chao KR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Weisburd B; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Francioli L; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Faiz F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA, Australia., Bournazos AM; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Hu Y; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, California., Malicki DM; Department of Pathology, Rady Children's Hospital University of California San Diego, San Diego, California., Doyle H; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Westmead, NSW, Australia., Witting N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, Experimental Neurology, KU Leuven-University of Leuven, Leuven, Belgium., Urankar K; Department of Neuropathology, Southmead Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Beleza-Meireles A; Clinical Genetics, Bristol Royal Hospital For Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Baptista J; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Institute of Biomedical and Clinical Science, University of Exeter Medical School University of Exeter, Exeter, United Kingdom., Ellard S; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Institute of Biomedical and Clinical Science, University of Exeter Medical School University of Exeter, Exeter, United Kingdom., Savarese M; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Johari M; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Vihola A; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Udd B; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.; Tampere Neuromuscular Center, Tampere University Hospital, Teiskontie 35, Tampere, 33520, Finland., Majumdar A; Paediatric Neurology, Bristol Royal Hospital For Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Straub V; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia.; Functional Neuromics, The Children's Medical Research Institute, Westmead, New South Wales, Australia.
Publikováno v:
Human mutation [Hum Mutat] 2020 Feb; Vol. 41 (2), pp. 403-411. Date of Electronic Publication: 2019 Dec 03.
Autor:
Ewans LJ; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia lisa.ewans@gmail.com.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Colley A; Clinical Genetics Department, Liverpool Hospital, Liverpool, New South Wales, Australia., Gaston-Massuet C; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London, UK., Gualtieri A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London, UK., Cowley MJ; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., McCabe MJ; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Anand D; Department of Biological Sciences, University of Delaware, Newark, Delaware, USA., Lachke SA; Department of Biological Sciences, University of Delaware, Newark, Delaware, USA.; Center for Bioinformatics and Computational Biology, University of Delaware, Newark, Delaware, USA., Scietti L; Department of Biology and Biotechnology, Universita degli Studi di Pavia, Pavia, Lombardia, Italy., Forneris F; Department of Biology and Biotechnology, Universita degli Studi di Pavia, Pavia, Lombardia, Italy., Zhu Y; Newcastle GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia., Ying K; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Walsh C; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia., Kirk EP; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, New South Wales, Australia., Miller D; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Giunta C; Connective Tissue Unit, Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland., Sillence D; Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia., Dinger M; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Kensington Campus, Sydney, New South Wales, Australia., Buckley M; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia., Roscioli T; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia.; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia.
Publikováno v:
Journal of medical genetics [J Med Genet] 2019 Sep; Vol. 56 (9), pp. 629-638. Date of Electronic Publication: 2019 May 25.
Autor:
Ewans LJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia. l.ewans@garvan.org.au.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia. l.ewans@garvan.org.au., Schofield D; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Faculty of Pharmacy, Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Shrestha R; Faculty of Pharmacy, Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia., Zhu Y; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia.; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Ying K; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Walsh C; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Lee E; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Kirk EP; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Colley A; Clinical Genetics Department, Liverpool Hospital, Liverpool, New South Wales, Australia., Ellaway C; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, New South Wales, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Worgan L; Clinical Genetics Department, Liverpool Hospital, Liverpool, New South Wales, Australia., Freckmann ML; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Lipke M; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Miller D; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Field M; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia., Dinger ME; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Buckley MF; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Cowley MJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Roscioli T; Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; NeuRA and Prince of Wales Clinical School, University of New South Wales, Kensington, Australia, New South Wales.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1564-1574. Date of Electronic Publication: 2018 Mar 29.
Autor:
Smol T; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.; University of Lille, EA 7364-RADEME, Lille, France., Petit F; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Piton A; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Keren B; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Sanlaville D; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Afenjar A; Service de Génétique, Hôpital d'Enfants Armand-Trousseau, AP-HP, Paris, France., Baker S; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bhoj EJ; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bonneau D; Service de Génétique, CHU d'Angers, Angers, France., Boudry-Labis E; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Bouquillon S; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Boute-Benejean O; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Caumes R; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Colson C; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Coubes C; Département de Génétique Médicale, CHU Montpellier, Montpellier, France., Coutton C; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France., Devillard F; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France., Dieux-Coeslier A; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Doco-Fenzy M; Service de Génétique, EA3801, SFR-CAP Santé, CHU de Reims, Reims, France., Ewans LJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia., Faivre L; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement, CHU Dijon, Dijon, France.; Equipe GAD, UMR INSERM 1231, Université de Bourgogne, Dijon, France., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Field M; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia., Fournier C; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Francannet C; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Genevieve D; Département de Génétique Médicale, CHU Montpellier, Montpellier, France., Giurgea I; Service de Génétique, Hôpital Trousseau, AP-HP, Paris, France., Goldenberg A; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Green AK; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden., Guerrot AM; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Heron D; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Isidor B; Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France., Keena BA; Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krock BL; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kuentz P; Equipe GAD, UMR INSERM 1231, Université de Bourgogne, Dijon, France., Lapi E; Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy., Le Meur N; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Li D; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Marey I; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Mignot C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Nava C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Nesbitt A; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nicolas G; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Roche-Lestienne C; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Roscioli T; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia., Satre V; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France., Santani A; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Stefanova M; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden., Steinwall Larsen S; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden., Saugier-Veber P; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Picker-Minh S; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Thuillier C; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Verloes A; Unité Fonctionnelle de Génétique Clinique, Hôpital Robert Debré, AP-HP, Paris, France., Vieville G; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France., Wenzel M; Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Willems M; Département de Génétique Médicale, CHU Montpellier, Montpellier, France., Whalen S; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Ziegler A; Service de Génétique, CHU d'Angers, Angers, France., Manouvrier-Hanu S; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Gerard B; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Ghoumid J; University of Lille, EA 7364-RADEME, Lille, France. jamal.ghoumid@chru-lille.fr.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France. jamal.ghoumid@chru-lille.fr.
Publikováno v:
Neurogenetics [Neurogenetics] 2018 May; Vol. 19 (2), pp. 93-103. Date of Electronic Publication: 2018 Mar 06.
Autor:
Ewans LJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Field M; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia., Zhu Y; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia., Turner G; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia., Leffler M; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia., Dinger ME; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Cowley MJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Buckley MF; SEALS Molecular and Cytogenetics Laboratories, Randwick Hospitals Campus, Sydney, New South Wales, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia., Jackson MR; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia., Roscioli T; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Sydney Children's Hospital, University of New South Wales, Sydney, New South Wales, Australia., Shoubridge C; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Jun; Vol. 25 (6), pp. 763-767. Date of Electronic Publication: 2017 Mar 15.