Works by Amor, David J.

Results: 124
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    Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 2020, doi. 10.3390/jcm8112020
    By:
    • Rius, Rocio;
    • Van Bergen, Nicole J.;
    • Compton, Alison G.;
    • Riley, Lisa G.;
    • Kava, Maina P.;
    • Balasubramaniam, Shanti;
    • Amor, David J.;
    • Fanjul-Fernandez, Miriam;
    • Cowley, Mark J.;
    • Fahey, Michael C.;
    • Koenig, Mary K.;
    • Enns, Gregory M.;
    • Sadedin, Simon;
    • Wilson, Meredith J.;
    • Tan, Tiong Y.;
    • Thorburn, David R.;
    • Christodoulou, John
    Publication type:
    Article
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    Future of whole genome sequencing.

    Published in:
    Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 251, doi. 10.1111/jpc.12634
    By:
    • Amor, David J
    Publication type:
    Article
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    De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
    By:
    • Ha, Thoa;
    • Morgan, Angela;
    • Bartos, Meghan N.;
    • Beatty, Katelyn;
    • Cogné, Benjamin;
    • Braun, Dominique;
    • Gerber, Céline B.;
    • Gaspar, Harald;
    • Kopps, Anna M.;
    • Rieubland, Claudine;
    • Hurst, Anna C. E.;
    • Amor, David J.;
    • Nizon, Mathilde;
    • Pasquier, Laurent;
    • Pfundt, Rolph;
    • Reis, André;
    • Siu, Victoria Mok;
    • Tessarech, Marine;
    • Thompson, Michelle L.;
    • Vincent, Marie
    Publication type:
    Article
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    Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 357, doi. 10.1002/ajmg.a.63027
    By:
    • Baker, Emma K.;
    • Arpone, Marta;
    • Bui, Minh;
    • Kraan, Claudine M.;
    • Ling, Ling;
    • Francis, David;
    • Hunter, Mathew F.;
    • Rogers, Carolyn;
    • Field, Michael J.;
    • Santa María, Lorena;
    • Faundes, Víctor;
    • Curotto, Bianca;
    • Morales, Paulina;
    • Trigo, Cesar;
    • Salas, Isabel;
    • Alliende, Angelica M.;
    • Amor, David J.;
    • Godler, David E.
    Publication type:
    Article
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    Genetic Factors in Athetoid Cerebral Palsy.

    Published in:
    Journal of Child Neurology, 2001, v. 16, n. 11, p. 793, doi. 10.1177/08830738010160110301
    By:
    • Amor, David J.;
    • Craig, Jan E.;
    • Delatycki, Martin B.;
    • Reddihough, Dinah
    Publication type:
    Article
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    ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

    Published in:
    European Heart Journal, 2016, v. 37, n. 33, p. 2586, doi. 10.1093/eurheartj/ehw160
    By:
    • Phelan, Dean G.;
    • Anderson, David J.;
    • Howden, Sara E.;
    • Wong, Raymond C. B.;
    • Hickey, Peter F.;
    • Pope, Kate;
    • Wilson, Gabrielle R.;
    • Pébay, Alice;
    • Davis, Andrew M.;
    • Petrou, Steven;
    • Elefanty, Andrew G.;
    • Stanley, Edouard G.;
    • James, Paul A.;
    • Macciocca, Ivan;
    • Bahlo, Melanie;
    • Cheung, Michael M.;
    • Amor, David J.;
    • Elliott, David A.;
    • Lockhart, Paul J.
    Publication type:
    Article
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    Self‐reported impact of developmental stuttering across the lifespan.

    Published in:
    Developmental Medicine & Child Neurology, 2022, v. 64, n. 10, p. 1297, doi. 10.1111/dmcn.15211
    By:
    • Boyce, Jessica O.;
    • Jackson, Victoria E.;
    • van Reyk, Olivia;
    • Parker, Richard;
    • Vogel, Adam P.;
    • Eising, Else;
    • Horton, Sarah E.;
    • Gillespie, Nathan A.;
    • Scheffer, Ingrid E.;
    • Amor, David J.;
    • Hildebrand, Michael S.;
    • Fisher, Simon E.;
    • Martin, Nicholas G.;
    • Reilly, Sheena;
    • Bahlo, Melanie;
    • Morgan, Angela T.
    Publication type:
    Article
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    Severe speech impairment is a distinguishing feature of FOXP1‐related disorder.

    Published in:
    Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1417, doi. 10.1111/dmcn.14955
    By:
    • Braden, Ruth O;
    • Amor, David J;
    • Fisher, Simon E;
    • Mei, Cristina;
    • Myers, Candace T;
    • Mefford, Heather;
    • Gill, Deepak;
    • Srivastava, Siddharth;
    • Swanson, Lindsay C;
    • Goel, Himanshu;
    • Scheffer, Ingrid E;
    • Morgan, Angela T
    Publication type:
    Article
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    Untitled.

    Published in:
    Developmental Medicine & Child Neurology, 2021, v. 63, n. 1, p. 119, doi. 10.1111/dmcn.14726
    By:
    • Amor, David J
    Publication type:
    Article
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    Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study.

    Published in:
    Clinical Chemistry, 2012, v. 58, n. 3, p. 590, doi. 10.1373/clinchem.2011.177626
    By:
    • Godler, David E.;
    • Slater, Howard R.;
    • Bui, Quang M.;
    • Storey, Elsdon;
    • Ono, Michele Y.;
    • Gehling, Freya;
    • Inaba, Yoshimi;
    • Francis, David;
    • Hopper, John L.;
    • Kinsella, Glynda;
    • Amor, David J.;
    • Hagerman, Randi J.;
    • Loesch, Danuta Z.
    Publication type:
    Article
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    New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1002, doi. 10.1038/ejhg.2013.258
    By:
    • Navarro, Claire Laure;
    • Esteves-Vieira, Vera;
    • Courrier, Sébastien;
    • Boyer, Amandine;
    • Duong Nguyen, Thuy;
    • Huong, Le Thi Thanh;
    • Meinke, Peter;
    • Schröder, Winnie;
    • Cormier-Daire, Valérie;
    • Sznajer, Yves;
    • Amor, David J;
    • Lagerstedt, Kristina;
    • Biervliet, Martine;
    • van den Akker, Peter C;
    • Cau, Pierre;
    • Roll, Patrice;
    • Lévy, Nicolas;
    • Badens, Catherine;
    • Wehnert, Manfred;
    • De Sandre-Giovannoli, Annachiara
    Publication type:
    Article
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    Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
    By:
    • Wilson, Gabrielle R;
    • Sunley, Jasmine;
    • Smith, Katherine R;
    • Pope, Kate;
    • Bromhead, Catherine J;
    • Fitzpatrick, Elizabeth;
    • Di Rocco, Maja;
    • van Steensel, Maurice;
    • Coman, David J;
    • Leventer, Richard J;
    • Delatycki, Martin B;
    • Amor, David J;
    • Bahlo, Melanie;
    • Lockhart, Paul J
    Publication type:
    Article
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    Dominant missense mutations in ABCC9 cause Cantú syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 793, doi. 10.1038/ng.2324
    By:
    • Harakalova, Magdalena;
    • van Harssel, Jeske J T;
    • Terhal, Paulien A;
    • van Lieshout, Stef;
    • Duran, Karen;
    • Renkens, Ivo;
    • Amor, David J;
    • Wilson, Louise C;
    • Kirk, Edwin P;
    • Turner, Claire L S;
    • Shears, Debbie;
    • Garcia-Minaur, Sixto;
    • Lees, Melissa M;
    • Ross, Alison;
    • Venselaar, Hanka;
    • Vriend, Gert;
    • Takanari, Hiroki;
    • Rook, Martin B;
    • van der Heyden, Marcel A G;
    • Asselbergs, Folkert W
    Publication type:
    Article
    40

    Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

    Published in:
    Nature Genetics, 2011, v. 43, n. 11, p. 1142, doi. 10.1038/ng.945
    By:
    • Lamandé, Shireen R;
    • Yuan, Yuan;
    • Gresshoff, Irma L;
    • Rowley, Lynn;
    • Belluoccio, Daniele;
    • Kaluarachchi, Kumara;
    • Little, Christopher B;
    • Botzenhart, Elke;
    • Zerres, Klaus;
    • Amor, David J;
    • Cole, William G;
    • Savarirayan, Ravi;
    • McIntyre, Peter;
    • Bateman, John F
    Publication type:
    Article
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    Fertility in Turner syndrome.

    Published in:
    Clinical Endocrinology, 2013, v. 79, n. 5, p. 606, doi. 10.1111/cen.12288
    By:
    • Hewitt, Jacqueline K.;
    • Jayasinghe, Yasmin;
    • Amor, David J.;
    • Gillam, Lynn H.;
    • Warne, Garry L.;
    • Grover, Sonia;
    • Zacharin, Margaret R.
    Publication type:
    Article
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    Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069
    By:
    • Amarasekera, Sumudu S C;
    • Hock, Daniella H;
    • Lake, Nicole J;
    • Calvo, Sarah E;
    • Grønborg, Sabine W;
    • Krzesinski, Emma I;
    • Amor, David J;
    • Fahey, Michael C;
    • Simons, Cas;
    • Wibrand, Flemming;
    • Mootha, Vamsi K;
    • Lek, Monkol;
    • Lunke, Sebastian;
    • Stark, Zornitza;
    • Østergaard, Elsebet;
    • Christodoulou, John;
    • Thorburn, David R;
    • Stroud, David A;
    • Compton, Alison G
    Publication type:
    Article
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    Hypotonic cerebral palsy.

    Published in:
    Child: Care, Health & Development, 2024, v. 50, n. 3, p. 1, doi. 10.1111/cch.13258
    By:
    • Cooper, Monica S.;
    • Antolovich, Giuliana C.;
    • Fahey, Michael C.;
    • Amor, David J.
    Publication type:
    Article
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    Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.

    Published in:
    International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3907, doi. 10.3390/ijms20163907
    By:
    • Field, Michael;
    • Dudding-Byth, Tracy;
    • Arpone, Marta;
    • Baker, Emma K.;
    • Aliaga, Solange M.;
    • Rogers, Carolyn;
    • Hickerton, Chriselle;
    • Francis, David;
    • Phelan, Dean G.;
    • Palmer, Elizabeth E.;
    • Amor, David J.;
    • Slater, Howard;
    • Bretherton, Lesley;
    • Ling, Ling;
    • Godler, David E.
    Publication type:
    Article