Works by Jones, Kristi

Results: 40

A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region.

Published in:

EJHaem, 2021, v. 2, n. 2, p. 157, doi. 10.1002/jha2.165

By:

Arthur, Jonathan W.;
Pickett, Hilda A.;
Barbaro, Pasquale M.;
Kilo, Tatjana;
Vasireddy, Raja S.;
Beilharz, Traude H.;
Powell, David R.;
Hackett, Emma L.;
Bennetts, Bruce;
Curtin, Julie A.;
Jones, Kristi;
Christodoulou, John;
Reddel, Roger R.;
Teo, Juliana;
Bryan, Tracy M.

Publication type:

Article

Navigating an Uninformative Genomic Test Result: A Practical Guide.

Published in:

Journal of Paediatrics & Child Health, 2025, v. 61, n. 3, p. 344, doi. 10.1111/jpc.16792

By:

St Clair, Laura;
Wong, Claire;
Elliot, Christopher;
Jones, Kristi J.;
Shah, Margit;
Josephi‐Taylor, Sarah;
Sandaradura, Sarah;
Adès, Lesley;
Smith, Janine;
Sachdev, Rani;
Ma, Alan

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

Chronic urticaria of neonatal onset: A potential sign of autoinflammation S Mehr et al. Chronic urticaria of neonatal onset.

Published in:

Journal of Paediatrics & Child Health, 2010, v. 46, n. 10, p. 608, doi. 10.1111/j.1440-1754.2009.01688.x

By:

Mehr, Sam;
Jones, Kristi J;
Singh-Grewal, Davinder;
Aksentijevich, Ivona;
Kakakios, Alyson

Publication type:

Article

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.

Published in:

Developmental Medicine & Child Neurology, 2022, v. 64, n. 5, p. 625, doi. 10.1111/dmcn.15117

By:

D'Silva, Arlene M;
Kariyawasam, Didu S T;
Best, Stephanie;
Wiley, Veronica;
Farrar, Michelle A;
Ravine, Anja;
Mowat, David;
Sampaio, Hugo;
Alexander, Ian E;
Russell, Jacqui;
Jones, Kristi;
Junek, Zena

Publication type:

Article

Sequencing and characterization of Helcococcus ovis: a comprehensive comparative genomic analysis of virulence.

Published in:

BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09581-1

By:

Cunha, Federico;
Casaro, Segundo;
Jones, Kristi L.;
Bisinotto, Rafael S.;
Kariyawasam, Subhashinie;
Brown, Mary B.;
Galvão, Klibs N.

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

Teaching Manually Assisted Cough to Caregivers of Children With Neuromuscular Disease.

Published in:

Respiratory Care, 2018, v. 63, n. 12, p. 1520, doi. 10.4187/respcare.06213

By:

Kan, Amelia F.;
Butler, Jane M.;
Hutchence, Meghan;
Jones, Kristi;
Widger, John;
Doumit, Michael A.

Publication type:

Article

Water T2 could predict functional decline in patients with dysferlinopathy.

Published in:

Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 6, p. 2888, doi. 10.1002/jcsm.13063

By:

Moore, Ursula;
Caldas de Almeida Araújo, Ericky;
Reyngoudt, Harmen;
Gordish‐Dressman, Heather;
Smith, Fiona E.;
Wilson, Ian;
James, Meredith;
Mayhew, Anna;
Rufibach, Laura;
Day, John W.;
Jones, Kristi J.;
Bharucha‐Goebel, Diana X.;
Salort‐Campana, Emmanuelle;
Pestronk, Alan;
Walter, Maggie C.;
Paradas, Carmen;
Stojkovic, Tanya;
Mori‐Yoshimura, Madoka;
Bravver, Elena;
Pegoraro, Elena

Publication type:

Article

The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.

Published in:

Genes, 2023, v. 14, n. 7, p. 1403, doi. 10.3390/genes14071403

By:

Davidson, Joanne E;
Russell, Jacqueline S;
Martinez, Noelia Nunez;
Mowat, David R;
Jones, Kristi J;
Kirk, Edwin P;
Kariyawasam, Didu;
Farrar, Michelle;
D'Silva, Arlene

Publication type:

Article

Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study.

Published in:

Muscle & Nerve, 2022, v. 65, n. 5, p. 531, doi. 10.1002/mus.27524

By:

Moore, Ursula;
Fernandez‐Torron, Roberto;
Jacobs, Marni;
Gordish‐Dressman, Heather;
Diaz‐Manera, Jordi;
James, Meredith K.;
Mayhew, Anna G.;
Harris, Elizabeth;
Guglieri, Michela;
Rufibach, Laura E.;
Feng, Jia;
Blamire, Andrew M.;
Carlier, Pierre G.;
Spuler, Simone;
Day, John W.;
Jones, Kristi J.;
Bharucha‐Goebel, Diana X.;
Salort‐Campana, Emmanuelle;
Pestronk, Alan;
Walter, Maggie C.

Publication type:

Article

AIM Platform: A Novel Nano Artificial Antigen-Presenting Cell-Based Clinical System Designed to Consistently Produce Multi-Antigen-Specific T-Cell Products with Potent and Durable Anti-Tumor Properties.

Published in:

Transfusion Medicine & Hemotherapy, 2020, v. 47, n. 6, p. 464, doi. 10.1159/000512788

By:

Suarez, Lauren;
Wang, Ruipeng;
Carmer, Scott;
Bednarik, Daniel;
Myint, Han;
Jones, Kristi;
Oelke, Mathias

Publication type:

Article

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Published in:

Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0546-4

By:

Dagar, Vinod;
Hutchison, Wendy;
Muscat, Andrea;
Krishnan, Anita;
Hoke, David;
Buckle, Ashley;
Siswara, Priscillia;
Amor, David J.;
Mann, Jeffrey;
Pinner, Jason;
Colley, Alison;
Wilson, Meredith;
Sachdev, Rani;
McGillivray, George;
Edwards, Matthew;
Kirk, Edwin;
Collins, Felicity;
Jones, Kristi;
Taylor, Juliet;
Hayes, Ian

Publication type:

Article

Developmental delay, expressive aphasia, hypotonia and dysmorphism in two brothers: an X-linked mental retardation syndrome?

Published in:

Clinical Genetics, 1998, v. 54, n. 5, p. 443, doi. 10.1111/j.1399-0004.1998.tb03762.x

By:

Jones, Kristi J;
North, Kuthryn N

Publication type:

Article

Neonatal severe hyperparathyroidism: An important clue to the aetiology.

Published in:

Journal of Paediatrics & Child Health, 2006, v. 42, n. 12, p. 813, doi. 10.1111/j.1440-1754.2006.00983.x

By:

Gabbett, Michael T;
Jones, Kristi;
Cowell, Christopher T;
Sillence, David O;
Wilson, Meredith J

Publication type:

Article

Juvenile Huntington disease.

Published in:

Journal of Paediatrics & Child Health, 2006, v. 42, n. 9, p. 552, doi. 10.1111/j.1440-1754.2006.00921.x

By:

Geevasinga, Nimeshan;
Richards, Fiona H.;
Jones, Kristi J.;
Ryan, Monique M.

Publication type:

Article

The chromatin remodeling factor BRG1 stimulates nucleotide excision repair by facilitating recruitment of XPC to sites of DNA damage.

Published in:

Cell Cycle, 2009, v. 8, n. 23, p. 3953, doi. 10.4161/cc.8.23.10115

By:

Ling Zhang;
Qian Zhang;
Jones, Kristi;
Patel, Mausam;
Feng Gong

Publication type:

Article

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Published in:

2011

By:

Rohrbach, Marianne;
Vandersteen, Anthony;
Yiş, Uluç;
Serdaroglu, Gul;
Ataman, Esra;
Chopra, Maya;
Garcia, Sixto;
Jones, Kristi;
Kariminejad, Ariana;
Kraenzlin, Marius;
Marcelis, Carlo;
Baumgartner, Matthias;
Giunta, Cecilia

Publication type:

journal article

Repression of small toxic protein synthesis by the Sib and OhsC small RNAs.

Published in:

Molecular Microbiology, 2008, v. 70, n. 5, p. 1076, doi. 10.1111/j.1365-2958.2008.06394.x

By:

Fozo, Elizabeth M.;
Kawano, Mitsuoki;
Fontaine, Fanette;
Kaya, Yusuf;
Mendieta, Kathy S.;
Jones, Kristi L.;
Ocampo, Alejandro;
Rudd, Kenneth E.;
Storz, Gisela

Publication type:

Article

Repression of small toxic protein synthesis by the Sib and OhsC small RNAs.

Published in:

2008

By:

Fozo, Elizabeth M.;
Kawano, Mitsuoki;
Fontaine, Fanette;
Kaya, Yusuf;
Mendieta, Kathy S.;
Jones, Kristi L.;
Ocampo, Alejandro;
Rudd, Kenneth E.;
Storz, Gisela

Publication type:

Erratum

Formative Assessment of Computational Thinking: Cognitive and Metacognitive Processes.

Published in:

Applied Measurement in Education, 2021, v. 34, n. 1, p. 27, doi. 10.1080/08957347.2020.1835912

By:

Bonner, Sarah;
Chen, Peggy;
Jones, Kristi;
Milonovich, Brandon

Publication type:

Article

Reproductive decision‐making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 3, p. 1, doi. 10.1002/jgc4.1997

By:

Gonzalez, Tina;
McLean, Alison;
Fleming, Jane;
Morris, Katrina;
Pacque, Melissa;
Forwood, Caitlin;
Wong, Claire;
Siow, Sue‐Faye;
Barter, Sarah;
Jones, Kristi J.;
Drummond, Katharine;
Berman, Yemima

Publication type:

Article

The molecular basis of chromatin dynamics during nucleotide excision repair.

Published in:

Biochemistry & Cell Biology, 2009, v. 87, n. 1, p. 265, doi. 10.1139/O08-101

By:

Zhang, Ling;
Jones, Kristi;
Gong, Feng

Publication type:

Article

Heat abatement during the pre-weaning period: effects on growth, feed efficiency, metabolites, and insulin of male Holstein calves.

Published in:

International Journal of Biometeorology, 2022, v. 66, n. 11, p. 2169, doi. 10.1007/s00484-022-02358-3

By:

Montevecchio, Ana B.;
Frota, Wilson;
Merenda, Victoria R.;
Jones, Kristi L.;
Martin III, Joseph G.;
Ballou, Michael A.;
Chebel, Ricardo C.

Publication type:

Article

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 15, doi. 10.3233/JND-221535

By:

Farrar, Michelle A.;
Kariyawasam, Didu;
Grattan, Sarah;
Bayley, Klair;
Davis, Mark;
Holland, Sandra;
Waddel, Leigh B.;
Jones, Kristi;
Lorentzos, Michelle;
Ravine, Anja;
Wotton, Tiffany;
Wiley, Veronica

Publication type:

Article

Pangenomic and biochemical analyses of Helcococcus ovis reveal widespread tetracycline resistance and a novel bacterial species, Helcococcus bovis.

Published in:

Frontiers in Microbiology, 2024, p. 1, doi. 10.3389/fmicb.2024.1456569

By:

Cunha, Federico;
Yuting Zhai;
Casaro, Segundo;
Jones, Kristi L.;
Hernandez, Modesto;
Bisinotto, Rafael S.;
Kariyawasam, Subhashinie;
Brown, Mary B.;
Phillips, Ashley;
Jeong, Kwangcheol C.;
Galvão, Klibs N.

Publication type:

Article

Analytical Validation of the IMMULITE ® 2000 XPi Progesterone Assay for Quantitative Analysis in Ovine Serum.

Published in:

Animals (2076-2615), 2022, v. 12, n. 24, p. 3534, doi. 10.3390/ani12243534

By:

Jones, Kristi L.;
Megahed, Ameer A.;
Diehl, Brittany N.;
Chan, Ann M.;
Hernández, Oscar;
Cabrera, Catalina;
Bittar, João H. J.

Publication type:

Article

Parent, Child and Physiotherapist Perceptions of Effectiveness of Parent Performed Manually Assisted Cough on Children With Neuromuscular Disease.

Published in:

Rehabilitation Process & Outcome, 2018, n. 7, p. 1, doi. 10.1177/1179572718803350

By:

Pitcher, Ashley N.;
Doumit, Michael A.;
Hutchence, Meghan;
Widger, John;
Jones, Kristi;
Butler, Jane M.

Publication type:

Article

L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2976, doi. 10.1002/ajmg.a.62392

By:

Vasiljevski, Emily R.;
Burns, Joshua;
Bray, Paula;
Donlevy, Gabrielle;
Mudge, Anita J.;
Jones, Kristi J.;
Summers, Matthew A.;
Biggin, Andrew;
Munns, Craig F.;
McKay, Marnee J.;
Baldwin, Jennifer N.;
Little, David G.;
Schindeler, Aaron

Publication type:

Article

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Published in:

Annals of Neurology, 2025, v. 97, n. 4, p. 611, doi. 10.1002/ana.27087

By:

Coppens, Sandra;
Deconinck, Nicolas;
Sullivan, Patricia;
Smolnikov, Andrei;
Clayton, Joshua S.;
Griffin, Kaitlyn R.;
Jones, Kristi J.;
Vilain, Catheline N.;
Kadhim, Hazim;
Bryen, Samantha J.;
Faiz, Fathimath;
Waddell, Leigh B.;
Evesson, Frances J.;
Bakshi, Madhura;
Pinner, Jason R.;
Charlton, Amanda;
Brammah, Susan;
Graf, Nicole S.;
Krivanek, Michael;
Tay, Chee Geap

Publication type:

Article

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Published in:

2018

By:

Oates, Emily C.;
Jones, Kristi J.;
Donkervoort, Sandra;
Charlton, Amanda;
Brammah, Susan;
Smith III, 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.

Publication type:

journal article

Mutations Found in Patients Leber's Congenital Amaurosis Disrupt Retinal Guanylate Cyclase Interaction with Rhodopsin In Vitro; Involvement In Phototransduction.

Published in:

FASEB Journal, 2013, v. 27, p. 1004.4, doi. 10.1096/fasebj.27.1_supplement.1004.4

By:

Bondarenko, Vladimir A;
Jones, Kristi

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

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy.

Published in:

Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.613446

By:

Moore, Ursula;
Jacobs, Marni;
Fernandez-Torron, Roberto;
LLauger Rossello, Jaume;
Smith, Fiona E.;
James, Meredith;
Mayhew, Anna;
Rufibach, Laura;
Carlier, Pierre G.;
Blamire, Andrew M.;
Day, John W.;
Jones, Kristi J.;
Bharucha-Goebel, Diana X.;
Salort-Campana, Emmanuelle;
Pestronk, Alan;
Walter, Maggie C.;
Paradas, Carmen;
Stojkovic, Tanya;
Mori-Yoshimura, Madoka;
Bravver, Elena

Publication type:

Article

Detection of bulky DNA lesions: DDB2 at the interface of chromatin and DNA repair in eukaryotes.

Published in:

2010

By:

Jones, Kristi L.;
Zhang, Ling;
Seldeen, Kenneth L.;
Gong, Feng

Publication type:

Other

Detection of bulky DNA lesions: DDB2 at the interface of chromatin and DNA repair in eukaryotes.

Published in:

IUBMB Life, 2010, v. 62, n. 11, p. 803, doi. 10.1002/iub.391

By:

Jones, Kristi L.;
Ling Zhang;
Seldeen, Kenneth L.;
Feng Gong

Publication type:

Article

Accurately Identifying Language Disorder in School-Age Children Using Dynamic Assessment of Narrative Language.

Published in:

Journal of Speech, Language & Hearing Research, 2024, v. 67, n. 12, p. 4765, doi. 10.1044/2024_JSLHR-23-00594

By:

Petersen, Douglas B.;
Konishi-Therkildsen, Alisa;
Clark, Kallie Dawn;
DeRobles, Anahi Kamila;
Frahm, Ashley Elizabeth;
Jones, Kristi;
Lettich, Camryn;
Spencer, Trina D.

Publication type:

Article

Optimization and Testing of a Commercial Viability PCR Protocol to Detect Escherichia coli in Whole Blood.

Published in:

Microorganisms, 2024, v. 12, n. 4, p. 765, doi. 10.3390/microorganisms12040765

By:

Jones, Kristi L.;
Cunha, Federico;
Casaro, Segundo;
Galvão, Klibs N.

Publication type:

Article

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.

Published in:

Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385

By:

Sandaradura, Sarah A.;
Bournazos, Adam;
Mallawaarachchi, Amali;
Cummings, Beryl B.;
Waddell, Leigh B.;
Jones, Kristi J.;
Troedson, Christopher;
Sudarsanam, Annapurna;
Nash, Benjamin M.;
Peters, Gregory B.;
Algar, Elizabeth M.;
MacArthur, Daniel G.;
North, Kathryn N.;
Brammah, Susan;
Charlton, Amanda;
Laing, Nigel G.;
Wilson, Meredith J.;
Davis, Mark R.;
Cooper, Sandra T.

Publication type:

Article

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Published in:

Muscle & Nerve, 2014, v. 50, n. 4, p. 477, doi. 10.1002/mus.24332

By:

Bushby, Katharine;
Finkel, Richard;
Wong, Brenda;
Barohn, Richard;
Campbell, Craig;
Comi, Giacomo P.;
Connolly, Anne M.;
Day, John W.;
Flanigan, Kevin M.;
Goemans, Nathalie;
Jones, Kristi J.;
Mercuri, Eugenio;
Quinlivan, Ros;
Renfroe, James B.;
Russman, Barry;
Ryan, Monique M.;
Tulinius, Mar;
Voit, Thomas;
Moore, Steven A.;
Lee Sweeney, H.

Publication type:

Article