Works by Tinker, Rory J.

Results: 19

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
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 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
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
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
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
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
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
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
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
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
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