Search | Virtual Health Library

1.

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Bryen, Samantha J; Joshi, Himanshu; Evesson, Frances J; Girard, Cyrille; Ghaoui, Roula; Waddell, Leigh B; Testa, Alison C; Cummings, Beryl; Arbuckle, Susan; Graf, Nicole; Webster, Richard; MacArthur, Daniel G; Laing, Nigel G; Davis, Mark R; Lührmann, Reinhard; Cooper, Sandra T.

Am J Hum Genet ; 105(3): 573-587, 2019 09 05.

Article in English | MEDLINE | ID: mdl-31447096

2.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Sue, Carolyn M; Balasubramaniam, Shanti; Bratkovic, Drago; Bonifant, Catherine; Christodoulou, John; Coman, David; Crawley, Karen; Edema-Hildebrand, Fabienne; Ellaway, Carolyn; Ghaoui, Roula; Kava, Maina; Kearns, Lisa S; Lee, Joy; Liang, Christina; Mackey, David A; Murray, Sean; Needham, Merrilee; Rius, Rocio; Russell, Jacqui; Smith, Nicholas J C; Thyagarajan, Dominic; Wools, Christine.

Intern Med J ; 52(1): 110-120, 2022 Jan.

Article in English | MEDLINE | ID: mdl-34505344

3.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates, Emily C; Jones, Kristi J; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E; Ware, James S; Yau, Kyle S; Swanson, Lindsay C; Whiffin, Nicola; Peduto, Anthony J; Bournazos, Adam; Waddell, Leigh B; Farrar, Michelle A; Sampaio, Hugo A; Teoh, Hooi Ling; Lamont, Phillipa J; Mowat, David; Fitzsimons, Robin B; Corbett, Alastair J; Ryan, Monique M; O'Grady, Gina L; Sandaradura, Sarah A; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie L; Nolan, Melinda A; Kaur, Simranpreet; Punetha, Jaya; Töpf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie A; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason R; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne E; Foley, A Reghan; Bharucha-Goebel, Diana; Collins, James; Connolly, Anne M; Gilbreath, Heather R; Iannaccone, Susan T.

Ann Neurol ; 83(6): 1105-1124, 2018 06.

Article in English | MEDLINE | ID: mdl-29691892

4.

Genetic mimics of cerebral palsy.

Pearson, Toni S; Pons, Roser; Ghaoui, Roula; Sue, Carolyn M.

Mov Disord ; 34(5): 625-636, 2019 05.

Article in English | MEDLINE | ID: mdl-30913345

5.

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

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.

Ann Neurol ; 80(1): 101-11, 2016 07.

Article in English | MEDLINE | ID: mdl-27159402

6.

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano, Macarena; Ghaoui, Roula; Ravenscroft, Gianina; Johnsen, Russell D; Davis, Mark R; Corbett, Alastair; Reddel, Stephen; Sue, Carolyn M; Liang, Christina; Waddell, Leigh B; Kaur, Simranpreet; Lek, Monkol; North, Kathryn N; MacArthur, Daniel G; Lamont, Phillipa J; Clarke, Nigel F; Laing, Nigel G.

Brain ; 138(Pt 4): 836-44, 2015 Apr.

Article in English | MEDLINE | ID: mdl-25681410

7.

Axonal excitability in primary amyloidotic neuropathy.

Hafner, Jessica; Ghaoui, Roula; Coyle, Luke; Burke, David; Ng, Karl.

Muscle Nerve ; 51(3): 443-5, 2015 Mar.

Article in English | MEDLINE | ID: mdl-25381694

8.

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

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; Roxburgh, Richard H; Ryan, Monique M; Sandaradura, Sarah A; Scott, Liam W; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J; Waddell, Leigh B; Cooper, Sandra T.

Ann Clin Transl Neurol ; 11(5): 1250-1266, 2024 May.

Article in English | MEDLINE | ID: mdl-38544359

9.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

Ghaoui, Roula; Ha, Thuong T; Kerkhof, Jennifer; McConkey, Haley; Gao, Song; Babic, Milena; King, Rob; Ravenscroft, Gianina; Koszyca, Barbara; Otto, Sophia; Laing, Nigel G; Scott, Hamish; Sadikovic, Bekim; Kassahn, Karin S.

Neuromuscul Disord ; 33(6): 484-489, 2023 06.

Article in English | MEDLINE | ID: mdl-37209493

10.

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

Scriba, Carolin K; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Ghaoui, Roula; Ghia, Darshan; Henderson, Robert D; Jordan, Nerissa; Winkel, Antony; Lamont, Phillipa J; Rodrigues, Miriam J; Roxburgh, Richard H; Weisburd, Ben; Laing, Nigel G; Deveson, Ira W; Davis, Mark R; Ravenscroft, Gianina.

Brain Commun ; 5(4): fcad208, 2023.

Article in English | MEDLINE | ID: mdl-37621409

11.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Wojcik, Monica H; Lemire, Gabrielle; Zaki, Maha S; Wissman, Mariel; Win, Wathone; White, Sue; Weisburd, Ben; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A.

medRxiv ; 2023 Aug 13.

Article in English | MEDLINE | ID: mdl-38328047

12.

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

Mulroy, Eoin; Ghaoui, Roula; Hutchinson, David; Rodrigues, Miriam; Lek, Monkol; MacArthur, Daniel G; Cooper, Sandra T; Clarke, Nigel F; Roxburgh, Richard.

Pract Neurol ; 17(4): 327-331, 2017 Aug.

Article in English | MEDLINE | ID: mdl-28433973

13.

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.

Mroczek, Magdalena; Durmus, Hacer; Bijarnia-Mahay, Sunita; Töpf, Ana; Ghaoui, Roula; Bryen, Samantha; Duff, Jennifer; England, Eleina; Cooper, Sandra T; MacArthur, Daniel G; Straub, Volker.

Neuromuscul Disord ; 30(4): 310-314, 2020 04.

Article in English | MEDLINE | ID: mdl-32331917

14.

Progressive cranial neuropathy and uterine involvement in myeloid sarcoma.

Khoo, Anthony; Kimber, Thomas; Cohen, Penelope; Ghaoui, Roula.

BMJ Neurol Open ; 1(1): e000006, 2019.

Article in English | MEDLINE | ID: mdl-33681768

15.

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Riley, Lisa G; Waddell, Leigh B; Ghaoui, Roula; Evesson, Frances J; Cummings, Beryl B; Bryen, Samantha J; Joshi, Himanshu; Wang, Min-Xia; Brammah, Susan; Kritharides, Leonard; Corbett, Alastair; MacArthur, Daniel G; Cooper, Sandra T.

Eur J Hum Genet ; 27(8): 1267-1273, 2019 08.

Article in English | MEDLINE | ID: mdl-31024060

16.

Movement disorders in mitochondrial disease.

Ghaoui, Roula; Sue, Carolyn M.

J Neurol ; 265(5): 1230-1240, 2018 May.

Article in English | MEDLINE | ID: mdl-29307008

17.

Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1.

Ghaoui, Roula; Curtis, Samuel; Kassahn, Karin S.

JAMA Neurol ; 80(8): 868-869, 2023 08 01.

Article in English | MEDLINE | ID: mdl-37213117

18.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

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; Hu, Ying; Gonorazky, Hernan; Claeys, Kristl; Joshi, Himanshu; Bournazos, Adam; Oates, Emily C; Ghaoui, Roula; Davis, Mark R; Laing, Nigel G; Topf, Ana; Kang, Peter B; Beggs, Alan H; North, Kathryn N; Straub, Volker; Dowling, James J; Muntoni, Francesco; Clarke, Nigel F; Cooper, Sandra T; Bönnemann, Carsten G; MacArthur, Daniel G.

Sci Transl Med ; 9(386)2017 04 19.

Article in English | MEDLINE | ID: mdl-28424332

19.

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Ghaoui, Roula; Benavides, Tatiana; Lek, Monkol; Waddell, Leigh B; Kaur, Simranpreet; North, Kathryn N; MacArthur, Daniel G; Clarke, Nigel F; Cooper, Sandra T.

Neuromuscul Disord ; 26(8): 500-3, 2016 08.

Article in English | MEDLINE | ID: mdl-27342937

20.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

O'Grady, Gina L; Ma, Alan; Sival, Deborah; Wong, Monica T Y; Peduto, Tony; Menezes, Manoj P; Young, Helen; Waddell, Leigh; Ghaoui, Roula; Needham, Merrilee; Lek, Monkol; North, Kathryn N; MacArthur, Daniel G; van Ravenswaaij-Arts, Conny Ma; Clarke, Nigel F.

Eur J Hum Genet ; 24(8): 1216-9, 2016 08.

Article in English | MEDLINE | ID: mdl-26813943

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