Works by Tinker, Rory J.

Results: 20

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.

Published in:

2025

By:

Furuta, Yutaka;
Nelson, Erica T.;
Tinker, Rory J.;
Grochowsky, Angela R.

Publication type:

Case Study

Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil.

Published in:

Viruses (1999-4915), 2020, v. 12, n. 5, p. 508, doi. 10.3390/v12050508

By:

Tahmasebi, Roozbeh;
da Costa, Antonio Charlys;
Tardy, Kaelan;
J. Tinker, Rory;
de Padua Milagres, Flavio Augusto;
Brustulin, Rafael;
Rodrigues Teles, Maria da Aparecida;
Togisaki das Chagas, Rogério;
de Deus Alves Soares, Cassia Vitória;
Sakurada Aranha Watanabe, Aripuana;
Salete Alencar, Cecilia;
Villanova, Fabiola;
Deng, Xutao;
Delwart, Eric;
Luchs, Adriana;
Leal, Élcio;
Cerdeira Sabino, Ester

Publication type:

Article

Early reattenders to the paediatric emergency department: A prospective cohort study and multivariate analysis.

Published in:

Journal of Paediatrics & Child Health, 2022, v. 58, n. 9, p. 1616, doi. 10.1111/jpc.16061

By:

Stokle, Matthew;
Tinker, Rory J;
Munro, Samuel P;
Mullen, Niall

Publication type:

Article

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63904

By:

Borja, Nicholas A.;
Tinker, Rory J.;
Bivona, Stephanie A.;
Smith, Carson A.;
Locker, Theodore Krijnse;
Fernandes, Samuela;
Acosta, Maria T.;
Adams, David R.;
Afzali, Ben;
Al‐Beshri, Ali;
Allworth, Aimee;
Alvarez, Raquel L.;
Alvey, Justin;
Andrews, Ashley;
Ashley, Euan A.;
Bacino, Carlos A.;
Bademci, Guney;
Balasubramanyam, Ashok;
Baldridge, Dustin;
Bale, Jim

Publication type:

Article

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63888

By:

Gimeno, Alex F.;
Tinker, Rory J.;
Furuta, Yutaka;
Phillips, John A.

Publication type:

Article

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597

By:

Ezell, Kimberly M.;
Tinker, Rory J.;
Furuta, Yutaka;
Gulsevin, Alican;
Bastarache, Lisa;
Hamid, Rizwan;
Cogan, Joy D.;
Rives, Lynette;
Neumann, Serena;
Corner, Brian;
Kozuria, Mary;
Phillips, John A.;
Adams, David R.;
Afzali, Ben;
Al‐Beshri, Ali;
Allworth, Aimee;
Alvarez, Raquel L.;
Alvey, Justin;
Andrews, Ashley;
Ashley, Euan A.

Publication type:

Article

Data from electronic healthcare records expand our understanding of X‐linked genetic diseases.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63527

By:

Tinker, Rory J.;
Bastarache, Lisa;
Ezell, Kimberly;
Neumann, Serena M.;
Furuta, Yutaka;
Morgan, Karee A.;
Phillips, John A.

Publication type:

Article

Probable digenic inheritance of Diamond–Blackfan anemia.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63454

By:

Furuta, Yutaka;
Tinker, Rory J;
Gulsevin, Alican;
Neumann, Serena M.;
Hamid, Rizwan;
Cogan, Joy D.;
Rives, Lynette;
Liu, Qi;
Chen, Hua‐Chang;
Joos, Karen M.;
Phillips, John A.

Publication type:

Article

A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2873, doi. 10.1002/ajmg.a.63383

By:

Furuta, Yutaka;
Nelson, Erica T.;
Neumann, Serena M.;
Phillips, John A.;
Hamid, Rizwan;
Tinker, Rory J.;
Cogan, Joy D.;
Rives, Lynette;
Newman, John H.

Publication type:

Article

The contribution of mosaicism to genetic diseases and de novo pathogenic variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2482, doi. 10.1002/ajmg.a.63309

By:

Tinker, Rory J.;
Bastarache, Lisa;
Ezell, Kimberly;
Kobren, Shilpa Nadimpalli;
Esteves, Cecilia;
Rosenfeld, Jill A.;
Macnamara, Ellen F.;
Hamid, Rizwan;
Cogan, Joy D.;
Rinker, David;
Mukharjee, Souhrid;
Glass, Ian;
Dipple, Katrina;
Phillips, John A.

Publication type:

Article

Magnetic Resonance Imaging Classification System categorization and emergency hospital admissions for children with cerebral palsy: A longitudinal, population‐based study.

Published in:

Developmental Medicine & Child Neurology, 2022, v. 64, n. 6, p. 734, doi. 10.1111/dmcn.15141

By:

Horridge, Karen A.;
Tinker, Rory J.;
Harvey, Carl J.;
DeKiewiet, Gavin;
Munro, Sam;
Dasarathi, Madhuri;
George, Sandia;
Wood, Katy;
Robson, Karen;
Black, Amy;
Galloway, Allison;
Sykes, Nichola;
Fraser, Lorna K.

Publication type:

Article

Norovirus strains in patients with acute gastroenteritis in rural and low-income urban areas in northern Brazil.

Published in:

Archives of Virology, 2021, v. 166, n. 3, p. 905, doi. 10.1007/s00705-020-04944-5

By:

Tinker, Rory J.;
da Costa, Antonio Charlys;
Tahmasebi, Roozbeh;
Milagres, Flavio Augusto de Pádua;
dos Santos Morais, Vanessa;
Pandey, Ramendra Pati;
José-Abrego, Alexis;
Brustulin, Rafael;
Rodrigues Teles, Maria da Aparecida;
Cunha, Mariana Sequetin;
Araújo, Emerson Luiz Lima;
Gómez, Mariela Martínez;
Deng, Xutao;
Delwart, Eric;
Sabino, Ester Cerdeira;
Leal, Elcio;
Luchs, Adriana

Publication type:

Article

First identification of mammalian orthoreovirus type 3 by gut virome analysis in diarrheic child in Brazil.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-55216-5

By:

Rosa, Ulisses Alves;
Ribeiro, Geovani de Oliveira;
Villanova, Fabiola;
Luchs, Adriana;
Milagres, Flávio Augusto de Pádua;
Komninakis, Shirley Vasconcelos;
Tahmasebi, Roozbeh;
Lobato, Márcia Cristina Alves Brito Sayão;
Brustulin, Rafael;
Chagas, Rogério Togisaki das;
Abrão, Maria de Fátima Neves dos Santos;
Soares, Cassia Vitória de Deus Alves;
Tinker, Rory J;
Pandey, Ramendra Pati;
Raj, V. Samuel;
Sabino, Ester Cerdeira;
Deng, Xutao;
Delwart, Eric;
Costa, Antonio Charlys da;
Leal, Élcio

Publication type:

Article

Predictors of mortality and disability in stroke-associated pneumonia.

Published in:

Acta Neurologica Belgica, 2021, v. 121, n. 2, p. 379, doi. 10.1007/s13760-019-01148-w

By:

Tinker, Rory J.;
Smith, Craig J.;
Heal, Calvin;
Bettencourt-Silva, Joao H.;
Metcalf, Anthony K.;
Potter, John F.;
Myint, Phyo K.

Publication type:

Article

Current and Emerging Clinical Treatment in Mitochondrial Disease.

Published in:

2021

By:

Tinker, Rory J.;
Lim, Albert Z.;
Stefanetti, Renae J.;
McFarland, Robert

Publication type:

Literature Review

Integrating a Parenting Assessment into Practice: Pediatric Providers' Time and Perspectives.

Published in:

Maternal & Child Health Journal, 2024, v. 28, n. 10, p. 1663, doi. 10.1007/s10995-024-03984-6

By:

J Cooke, Amber;
Attar, Tahra I;
L Carr, Victoria;
C Whitney, Anna;
J Tinker, Rory;
L Carlson, Kathryn;
M Stoppelbein, Merrill;
A Jana, Laura;
J Scholer, Seth

Publication type:

Article

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 196, doi. 10.1002/ajmg.a.61905

By:

Tinker, Rory J;
Burghel, George J;
Garg, Shruti;
Steggall, Maggie;
Cuvertino, Sara;
Banka, Siddharth

Publication type:

Article

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03423-3

By:

Furuta, Yutaka;
Tinker, Rory J.;
Hamid, Rizwan;
Cogan, Joy D.;
Ezell, Kimberly M.;
Oglesbee, Devin;
DeBerardinis, Ralph J.;
Phillips III, John A.

Publication type:

Article

The Clinical Spectrum of Mosaic Genetic Disease.

Published in:

Genes, 2024, v. 15, n. 10, p. 1, doi. 10.3390/genes15101240

By:

Geiger, Hanabi;
Furuta, Yutaka;
van Wyk, Suné;
Phillips III, John A.;
Tinker, Rory J.

Publication type:

Article

A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2054

By:

Tinker, Rory J.;
Guess, Tiffany;
Rinker, David C.;
Sheehan, Jonathan H.;
Lubarsky, Daniel;
Porath, Binu;
Mosera, Mackenzie;
Mayo, Ping;
Solem, Emily;
Lee, Laura A.;
Sharam, Asha;
Brault, Jennifer

Publication type:

Article