Works by O'Grady, Gina

Results: 19

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Published in:

Quality of Life Research, 2022, v. 31, n. 6, p. 1657, doi. 10.1007/s11136-021-03046-2

By:

Theadom, Alice;
Rodrigues, Miriam;
Ranta, Annemarei;
Poke, Gemma;
Love, Donald;
Jones, Kelly;
Ao, Braden Te;
Hammond-Tooke, Graeme;
Parmar, Priya;
O'Grady, Gina;
Roxburgh, Richard;
the MDPrev Research Group;
Walker, Kerry;
Higgins, Chris;
Feigin, Valery;
Krishnamurthi, Rita;
Vandal, Alain;
Brown, Paul;
Stewart, Jenny

Publication type:

Article

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.

Published in:

JAMA Neurology, 2015, v. 72, n. 12, p. 1424, doi. 10.1001/jamaneurol.2015.2274

By:

Ghaoui, Roula;
Cooper, Sandra T.;
Lek, Monkol;
Jones, Kristi;
Corbett, Alastair;
Reddel, Stephen W.;
Needham, Merrilee;
Liang, Christina;
Waddell, Leigh B.;
Nicholson, Garth;
O'Grady, Gina;
Kaur, Simranpreet;
Ong, Royston;
Davis, Mark;
Sue, Carolyn M.;
Laing, Nigel G.;
North, Kathryn N.;
MacArthur, Daniel G.;
Clarke, Nigel F.

Publication type:

Article

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

Published in:

2016

By:

O'Grady, Gina L.;
Lek, Monkol;
Lamande, Shireen R.;
Waddell, Leigh;
Oates, Emily C.;
Punetha, Jaya;
Ghaoui, Roula;
Sandaradura, Sarah A.;
Best, Heather;
Kaur, Simranpreet;
Davis, Mark;
Laing, Nigel G.;
Muntoni, Francesco;
Hoffman, Eric;
MacArthur, Daniel G.;
Clarke, Nigel F.;
Cooper, Sandra;
North, Kathryn

Publication type:

journal article

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 297, doi. 10.1002/jimd.12156

By:

Mingirulli, Nadja;
Pyle, Angela;
Hathazi, Denisa;
Alston, Charlotte L.;
Kohlschmidt, Nicolai;
O'Grady, Gina;
Waddell, Leigh;
Evesson, Frances;
Cooper, Sandra B. T.;
Turner, Christian;
Duff, Jennifer;
Topf, Ana;
Yubero, Delia;
Jou, Cristina;
Nascimento, Andrés;
Ortez, Carlos;
García‐Cazorla, Angels;
Gross, Claudia;
O'Callaghan, Maria;
Santra, Saikat

Publication type:

Article

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 403, doi. 10.1002/humu.23938

By:

Bryen, Samantha J.;
Ewans, Lisa J.;
Pinner, Jason;
MacLennan, Suzanna C.;
Donkervoort, Sandra;
Castro, Diana;
Töpf, Ana;
O'Grady, Gina;
Cummings, Beryl;
Chao, Katherine R.;
Weisburd, Ben;
Francioli, Laurent;
Faiz, Fathimath;
Bournazos, Adam M.;
Hu, Ying;
Grosmann, Carla;
Malicki, Denise M.;
Doyle, Helen;
Witting, Nanna;
Vissing, John

Publication type:

Article

Coping in Children and Adolescents with a Genetic Muscle Disorder - Findings from a Population-Based Study.

Published in:

Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 1069, doi. 10.3233/JND-200564

By:

Jones, Kelly M.;
Anand, Aaron;
Bright, Charmaine;
O'Grady, Gina;
Rodrigues, Miriam J.;
Ranta, Annemare;
Roxburgh, Richard H.;
Theadom, Alice

Publication type:

Article

Vibration Therapy as an Early Intervention for Children Aged 2–4 Years with Cerebral Palsy: A Feasibility Study.

Published in:

Physical & Occupational Therapy in Pediatrics, 2023, v. 43, n. 5, p. 564, doi. 10.1080/01942638.2023.2181723

By:

Adaikina, Alena;
Derraik, José G. B.;
Taylor, Janice;
O'Grady, Gina L.;
Hofman, Paul L.;
Gusso, Silmara

Publication type:

Article

Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2460, doi. 10.1002/ajmg.a.62851

By:

Alburaiky, Salam;
Taylor, Juliet;
O'Grady, Gina;
Thomson, Glen;
Perry, David;
England, Eleina M.;
Yap, Patrick

Publication type:

Article

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327

By:

Tallgren, Antti;
Kager, Leo;
O'Grady, Gina;
Tuominen, Hannu;
Körkkö, Jarmo;
Kuismin, Outi;
Feucht, Martha;
Wilson, Callum;
Behunova, Jana;
England, Eleina;
Kurki, Mitja I.;
Palotie, Aarno;
Hallman, Mikko;
Kaarteenaho, Riitta;
Laccone, Franco;
Boztug, Kaan;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1980, doi. 10.1002/humu.23635

By:

Zaharieva, Irina T.;
Sarkozy, Anna;
Munot, Pinki;
Manzur, Adnan;
O'Grady, Gina;
Rendu, John;
Malfatti, Eduardo;
Amthor, Helge;
Servais, Laurent;
Urtizberea, J. Andoni;
Neto, Osorio Abath;
Zanoteli, Edmar;
Donkervoort, Sandra;
Taylor, Juliet;
Dixon, Joanne;
Poke, Gemma;
Foley, A. Reghan;
Holmes, Chris;
Williams, Glyn;
Holder, Muriel

Publication type:

Article

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1250, doi. 10.1002/acn3.52041

By:

Marchant, Rhett G.;
Bryen, Samantha J.;
Bahlo, Melanie;
Cairns, Anita;
Chao, Katherine R.;
Corbett, Alastair;
Davis, Mark R.;
Ganesh, Vijay S.;
Ghaoui, Roula;
Jones, Kristi J.;
Kornberg, Andrew J.;
Lek, Monkol;
Liang, Christina;
MacArthur, Daniel G.;
Oates, Emily C.;
O'Donnell‐Luria, Anne;
O'Grady, Gina L.;
Osei‐Owusu, Ikeoluwa A.;
Rafehi, Haloom;
Reddel, Stephen W.

Publication type:

Article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Published in:

Science Translational Medicine, 2017, v. 9, n. 386, p. 1, doi. 10.1126/scitranslmed.aal5209

By:

Cummings, Beryl B.;
Marshall, Jamie L.;
Tukiainen, Taru;
Lek, Monkol;
Donkervoort, Sandra;
Foley, A. Reghan;
Bolduc, Veronique;
Waddell, Leigh B.;
Sandaradura, Sarah A.;
O'Grady, Gina L.;
Estrella, Elicia;
Reddy, Hemakumar M.;
Zhao, Fengmei;
Weisburd, Ben;
Karczewski, Konrad J.;
O'Donnell-Luria, Anne H.;
Birnbaum, Daniel;
Sarkozy, Anna;
Ying Hu;
Gonorazky, Hernan

Publication type:

Article

Isolated seizures during the first episode of relapsing myelin oligodendrocyte glycoprotein antibody-associated demyelination in children.

Published in:

2019

By:

Ramanathan, Sudarshini;
O'grady, Gina L;
Malone, Stephen;
Spooner, Claire G;
Brown, David A;
Gill, Deepak;
Brilot, Fabienne;
Dale, Russell C

Publication type:

Case Study

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 553, doi. 10.1111/cge.14311

By:

Bryen, Samantha J.;
Zhang, Katharine;
Dziaduch, Gregory;
Bommireddipalli, Shobhana;
Naseri, Take;
Reupena, Muagututi'a Sefuiva;
Viali, Satupa'itea;
Minster, Ryan L.;
Waddell, Leigh B.;
Charlton, Amanda;
O'Grady, Gina L.;
Evesson, Frances J.;
Cooper, Sandra T.

Publication type:

Article

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 883, doi. 10.1038/ejhg.2014.169

By:

O'Grady, Gina L;
Best, Heather A;
Oates, Emily C;
Kaur, Simranpreet;
Charlton, Amanda;
Brammah, Susan;
Punetha, Jaya;
Kesari, Akanchha;
North, Kathryn N;
Ilkovski, Biljana;
Hoffman, Eric P;
Clarke, Nigel F

Publication type:

Article

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331

By:

Ilkovski, Biljana;
Pagnamenta, Alistair T.;
O'Grady, Gina L.;
Kinoshita, Taroh;
Howard, Malcolm F.;
Lek, Monkol;
Thomas, Brett;
Turner, Anne;
Christodoulou, John;
Sillence, David;
Knight, Samantha J. L.;
Popitsch, Niko;
Keays, David A.;
Anzilotti, Consuelo;
Goriely, Anne;
Waddell, Leigh B.;
Brilot, Fabienne;
North, Kathryn N.;
Noriyuki Kanzawa;
Macarthur, Daniel G.

Publication type:

Article

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0006-7

By:

Schofield, Deborah;
Alam, Khurshid;
Douglas, Lyndal;
Shrestha, Rupendra;
MacArthur, Daniel G.;
Davis, Mark;
Laing, Nigel G.;
Clarke, Nigel F.;
Burns, Joshua;
Cooper, Sandra T.;
North, Kathryn N.;
Sandaradura, Sarah A.;
O'Grady, Gina L.

Publication type:

Article

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2168, doi. 10.1002/ajmg.a.62215

By:

Strong, Alanna;
O'Grady, Gina;
Shih, Evelyn;
Bishop, Jonathan R.;
Loomes, Kathleen;
Diamond, Tamir;
Hartung, Erum A.;
Wong, William;
Cuddapah, Sanmati;
Cahill, Anne Marie;
Hou, Cuiping;
Slater, Diana;
Vaccaro, Courtney;
Watson, Deborah;
Li, Dong;
Hakonarson, Hakon

Publication type:

Article

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.

Published in:

Neuroepidemiology, 2019, v. 52, n. 3/4, p. 128, doi. 10.1159/000494115

By:

Theadom, Alice;
Rodrigues, Miriam;
Poke, Gemma;
O'Grady, Gina;
Love, Donald;
Hammond-Tooke, Graeme;
Parmar, Priya;
Baker, Ronelle;
Feigin, Valery;
Jones, Kelly;
Te Ao, Braden;
Ranta, Anna;
Roxburgh, Richard

Publication type:

Article