Works matching AU Ho, Gladys

Results: 25

Genome sequencing in congenital cataracts improves diagnostic yield.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1173, doi. 10.1002/humu.24240

By:

Ma, Alan;
Grigg, John R.;
Flaherty, Maree;
Smith, James;
Minoche, Andre E.;
Cowley, Mark J.;
Nash, Benjamin M.;
Ho, Gladys;
Gayagay, Thet;
Lai, Tiffany;
Farnsworth, Elizabeth;
Hackett, Emma L.;
Slater, Katrina;
Wong, Karen;
Holman, Katherine J.;
Jenkins, Gemma;
Cheng, Anson;
Martin, Frank;
Brown, Natasha J.;
Leighton, Sarah E.

Publication type:

Article

RettBASE: Rett syndrome database update.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 922, doi. 10.1002/humu.23263

By:

Krishnaraj, Rahul;
Ho, Gladys;
Christodoulou, John

Publication type:

Article

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 488, doi. 10.1002/humu.22967

By:

Smith, Thomas;
Ho, Gladys;
Christodoulou, John;
Price, Elizabeth Ann;
Onadim, Zerrin;
Gauthier‐Villars, Marion;
Dehainault, Catherine;
Houdayer, Claude;
Parfait, Beatrice;
Minkelen, Rick;
Lohman, Dietmar;
Eyre‐Walker, Adam

Publication type:

Article

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 371, doi. 10.1002/humu.22948

By:

Ma, Alan S.;
Grigg, John R.;
Ho, Gladys;
Prokudin, Ivan;
Farnsworth, Elizabeth;
Holman, Katherine;
Cheng, Anson;
Billson, Frank A.;
Martin, Frank;
Fraser, Clare;
Mowat, David;
Smith, James;
Christodoulou, John;
Flaherty, Maree;
Bennetts, Bruce;
Jamieson, Robyn V.

Publication type:

Article

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1976, doi. 10.1002/humu.21399

By:

Ho, Gladys;
Yonezawa, Atsushi;
Masuda, Satohiro;
Inui, Ken-ichi;
Sim, Keow G.;
Carpenter, Kevin;
Olsen, Rikke K.J.;
Mitchell, John J.;
Rhead, William J.;
Peters, Gregory;
Christodoulou, John

Publication type:

Article

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020025

By:

Sajeev, Mona;
Sharon Chin;
Gladys Ho;
Bennetts, Bruce;
Sankaran, Bindu Parayil;
Gutierrez, Bea;
Devanapalli, Beena;
Tolun, Adviye Ayper;
Wiley, Veronica;
Fletcher, Janice;
Fuller, Maria;
Balasubramaniam, Shanti

Publication type:

Article

Does it help to train attention in dyslexic children: pilot case studies with a ten-session neurofeedback program.

Published in:

International Journal on Disability & Human Development (De Gruyter), 2014, v. 13, n. 1, p. 45, doi. 10.1515/ijdhd-2013-0005

By:

Au, Alma;
Ho, Gladys S.M.;
Choi, Elizabeth W.M.;
Leung, Patrick;
Waye, Mary M.Y.;
Kang, Kenneth;
Au, Kit-yee

Publication type:

Article

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

Published in:

2010

By:

White, Rose;
Ho, Gladys;
Schmidt, Swetlana;
Scheffer, Ingrid E.;
Fischer, Alexandra;
Yendle, Simone C.;
Bienvenu, Thierry;
Nectoux, Juliette;
Ellaway, Carolyn J.;
Darmanian, Artur;
Tong, XingZhang;
Cloosterman, Desiree;
Bennetts, Bruce;
Kalra, Veena;
Fullston, Tod;
Gecz, Jozef;
Cox, Timothy C.;
Christodoulou, John

Publication type:

journal article

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 304, doi. 10.1002/ajmg.a.62500

By:

Bartlett, Essra;
Archibald, Alison D.;
Francis, David;
Ling, Ling;
Thomas, Rob;
Chandler, Gabrielle;
Ward, Lisa;
O'Farrell, Gemma;
Pandelache, Alison;
Delatycki, Martin B.;
Bennetts, Bruce H.;
Ho, Gladys;
Fisk, Katrina;
Baker, Emma K.;
Amor, David J.;
Godler, David E.

Publication type:

Article

Functional abilities in children and adults with the CDKL5 disorder.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2860, doi. 10.1002/ajmg.a.37851

By:

Fehr, Stephanie;
Downs, Jenny;
Ho, Gladys;
de Klerk, Nick;
Forbes, David;
Christodoulou, John;
Williams, Simon;
Leonard, Helen

Publication type:

Article

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 713, doi. 10.1002/ajmg.a.34206

By:

Armani, Roksana;
Archer, Hayley;
Clarke, Angus;
Vasudevan, Pradeep;
Zweier, Christiane;
Ho, Gladys;
Williamson, Sarah;
Cloosterman, Desiree;
Yang, Nan;
Christodoulou, John

Publication type:

Article

The role of exome sequencing in childhood interstitial or diffuse lung disease.

Published in:

2022

By:

Temple, Suzanna E. L.;
Ho, Gladys;
Bennetts, Bruce;
Boggs, Kirsten;
Vidic, Nada;
Mowat, David;
Christodoulou, John;
Schultz, André;
Gayagay, Thet;
Roscioli, Tony;
Zhu, Ying;
Lunke, Sebastian;
Armstrong, David;
Harrison, Joanne;
Kapur, Nitin;
McDonald, Tim;
Selvadurai, Hiran;
Tai, Andrew;
Stark, Zornitza;
Jaffe, Adam

Publication type:

journal article

Intronic variants in inborn errors of metabolism: Beyond the exome.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1031495

By:

Hertzog, Ashley;
Selvanathan, Arthavan;
Farnsworth, Elizabeth;
Tchan, Michel;
Adams, Louisa;
Lewis, Katherine;
Tolun, Adviye Ayper;
Bennetts, Bruce;
Ho, Gladys;
Bhattacharya, Kaustuv

Publication type:

Article

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.896125

By:

Beaman, Glenda M.;
Lopes, Filipa M.;
Hofmann, Aybike;
Roesch, Wolfgang;
Promm, Martin;
Bijlsma, Emilia K.;
Patel, Chirag;
Akinci, Aykut;
Burgu, Berk;
Knijnenburg, Jeroen;
Ho, Gladys;
Aufschlaeger, Christina;
Dathe, Sylvia;
Voelckel, Marie Antoinette;
Cohen, Monika;
Yue, Wyatt W.;
Stuart, Helen M.;
Mckenzie, Edward A.;
Elvin, Mark;
Roberts, Neil A.

Publication type:

Article

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Published in:

Journal of Neurodevelopmental Disorders, 2015, v. 7, n. 1, p. 1, doi. 10.1186/1866-1955-7-2

By:

Fehr, Stephanie;
Leonard, Helen;
Ho, Gladys;
Williams, Simon;
de Klerk, Nick;
Forbes, David;
Christodoulou, John;
Downs, Jenny

Publication type:

Article

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Published in:

Journal of Neurodevelopmental Disorders, 2015, v. 7, n. 1, p. 35, doi. 10.1186/1866-1955-7-2

By:

Fehr, Stephanie;
Leonard, Helen;
Ho, Gladys;
Williams, Simon;
de Klerk, Nick;
Forbes, David;
Christodoulou, John;
Downs, Jenny

Publication type:

Article

In vitro read-through of phenylalanine hydroxylase ( PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 955, doi. 10.1007/s10545-013-9602-6

By:

Ho, Gladys;
Reichardt, Juergen;
Christodoulou, John

Publication type:

Article

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00184-x

By:

Tanudisastro, Hope A.;
Holman, Katherine;
Ho, Gladys;
Farnsworth, Elizabeth;
Fisk, Katrina;
Gayagay, Thet;
Hackett, Emma;
Jenkins, Gemma;
Krishnaraj, Rahul;
Lai, Tiffany;
Wong, Karen;
Patel, Chirag;
Mallawaarachchi, Amali;
Mallett, Andrew J.;
Bennetts, Bruce;
Alexander, Stephen I.;
McCarthy, Hugh J.

Publication type:

Article

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 5, p. 522, doi. 10.1038/ejhg.2012.208

By:

Ellaway, Carolyn J;
Ho, Gladys;
Bettella, Elisa;
Knapman, Alisa;
Collins, Felicity;
Hackett, Anna;
McKenzie, Fiona;
Darmanian, Artur;
Peters, Gregory B;
Fagan, Kerry;
Christodoulou, John

Publication type:

Article

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 266, doi. 10.1038/ejhg.2012.156

By:

Fehr, Stephanie;
Wilson, Meredith;
Downs, Jenny;
Williams, Simon;
Murgia, Alessandra;
Sartori, Stefano;
Vecchi, Marilena;
Ho, Gladys;
Polli, Roberta;
Psoni, Stavroula;
Bao, Xinhua;
de Klerk, Nick;
Leonard, Helen;
Christodoulou, John

Publication type:

Article

Caregiving Perceptions of Chinese Mothers of Children with Intellectual Disability in Hong Kong.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2007, v. 20, n. 2, p. 145, doi. 10.1111/j.1468-3148.2006.00309.x

By:

Mak, Winnie W. S.;
Ho, Gladys S. M.

Publication type:

Article

Newborn Genomic Sequencing Needs Confirmation but Not Repeating.

Published in:

Children, 2024, v. 11, n. 11, p. 1287, doi. 10.3390/children11111287

By:

Bennetts, Bruce;
Ho, Gladys;
Shin, Sarah;
Cheong, Pak Leng;
Wotton, Tiffany;
Ranieri, Enzo;
Pirreca, Shelley

Publication type:

Article

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1781, doi. 10.3390/jpm12111781

By:

Archibald, Alison D.;
McClaren, Belinda J.;
Caruana, Jade;
Tutty, Erin;
King, Emily A.;
Halliday, Jane L.;
Best, Stephanie;
Kanga-Parabia, Anaita;
Bennetts, Bruce H.;
Cliffe, Corrina C.;
Madelli, Evanthia O.;
Ho, Gladys;
Liebelt, Jan;
Long, Janet C.;
Braithwaite, Jeffrey;
Kennedy, Jillian;
Massie, John;
Emery, Jon D.;
McGaughran, Julie;
Marum, Justine E.

Publication type:

Article

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.

Published in:

Journal of Paediatrics & Child Health, 2024, v. 60, n. 4/5, p. 118, doi. 10.1111/jpc.16547

By:

Ma, Alan;
Newing, Timothy P;
O'Shea, Rosie;
Gokoolparsadh, Akira;
Murdoch, Emma;
Hayward, Janette;
Shannon, Gillian;
Kevin, Lucy;
Bennetts, Bruce;
Ho, Gladys;
Smith, Janine;
Shah, Margit;
Jones, Kristi J;
Josephi‐Taylor, Sarah;
Sandaradura, Sarah A;
Adès, Lesley;
Jamieson, Robyn;
Rankin, Nicole M

Publication type:

Article

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3905, doi. 10.3390/ijms23073905

By:

Nash, Benjamin M.;
Ma, Alan;
Ho, Gladys;
Farnsworth, Elizabeth;
Minoche, Andre E.;
Cowley, Mark J.;
Barnett, Christopher;
Smith, Janine M.;
Loi, To Ha;
Wong, Karen;
St Heaps, Luke;
Wright, Dale;
Dinger, Marcel E.;
Bennetts, Bruce;
Grigg, John R.;
Jamieson, Robyn V.

Publication type:

Article