Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource, 1 online resource.

Language: Englisch

Bibliographic citation: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) ; volume:21 ; number:1 ; day:23 ; month:6 ; year:2023 ; pages:1-10 ; date:12.2023
Journal of translational medicine ; 21, Heft 1 (23.6.2023), 1-10, 12.2023

Creator: Pinto e Vairo, Filippo
Kemppainen, Jennifer L.
Vitek, Carolyn R. Rohrer
Whalen, Denise A.
Kolbert, Kayla J.
Sikkink, Kaitlin J.
Kroc, Sarah A.
Kruisselbrink, Teresa
Shupe, Gabrielle F.
Knudson, Alyssa K.
Burke, Elizabeth M.
Loftus, Elle C.
Bandel, Lorelei A.
Prochnow, Carri A.
Mulvihill, Lindsay A.
Thomas, Brittany
Gable, Dale M.
Graddy, Courtney B.
Garzon, Giovanna G. Moreno
Ekpoh, Idara U.
Porquera, Eva M. Carmona
Fervenza, Fernando C.
Hogan, Marie C.
El Ters, Mireille
Warrington, Kenneth J.
Davis, John M.
Koster, Matthew J.
Orandi, Amir B.
Basiaga, Matthew L.
Vella, Adrian
Kumar, Seema
Creo, Ana L.
Lteif, Aida N.
Pittock, Siobhan T.
Tebben, Peter J.
Abate, Ejigayehu G.
Joshi, Avni Y.
Ristagno, Elizabeth H.
Patnaik, Mrinal S.
Schimmenti, Lisa A.
Dhamija, Radhika
Sabrowsky, Sonia M.
Wierenga, Klaas J.
Keddis, Mira T.
Samadder, Niloy Jewel J.
Presutti, Richard J.
Robinson, Steven I.
Stephens, Michael C.
Roberts, Lewis R.
Faubion, William A.
Driscoll, Sherilyn W.
Wong-Kisiel, Lily C.
Selcen, Duygu
Flanagan, Eoin P.
Ramanan, Vijay K.
Jackson, Lauren M.
Mauermann, Michelle L.
Ortega, Victor E.
Anderson, Sarah A.
Aoudia, Stacy L.
Klee, Eric W.
McAllister, Tammy M.
Lazaridis, Konstantinos N.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12967-023-04183-7

URN: urn:nbn:de:101:1-2023092610080453687558

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.11.2025, 9:58 AM CET

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Associated

Pinto e Vairo, Filippo
Kemppainen, Jennifer L.
Vitek, Carolyn R. Rohrer
Whalen, Denise A.
Kolbert, Kayla J.
Sikkink, Kaitlin J.
Kroc, Sarah A.
Kruisselbrink, Teresa
Shupe, Gabrielle F.
Knudson, Alyssa K.
Burke, Elizabeth M.
Loftus, Elle C.
Bandel, Lorelei A.
Prochnow, Carri A.
Mulvihill, Lindsay A.
Thomas, Brittany
Gable, Dale M.
Graddy, Courtney B.
Garzon, Giovanna G. Moreno
Ekpoh, Idara U.
Porquera, Eva M. Carmona
Fervenza, Fernando C.
Hogan, Marie C.
El Ters, Mireille
Warrington, Kenneth J.
Davis, John M.
Koster, Matthew J.
Orandi, Amir B.
Basiaga, Matthew L.
Vella, Adrian
Kumar, Seema
Creo, Ana L.
Lteif, Aida N.
Pittock, Siobhan T.
Tebben, Peter J.
Abate, Ejigayehu G.
Joshi, Avni Y.
Ristagno, Elizabeth H.
Patnaik, Mrinal S.
Schimmenti, Lisa A.
Dhamija, Radhika
Sabrowsky, Sonia M.
Wierenga, Klaas J.
Keddis, Mira T.
Samadder, Niloy Jewel J.
Presutti, Richard J.
Robinson, Steven I.
Stephens, Michael C.
Roberts, Lewis R.
Faubion, William A.
Driscoll, Sherilyn W.
Wong-Kisiel, Lily C.
Selcen, Duygu
Flanagan, Eoin P.
Ramanan, Vijay K.
Jackson, Lauren M.
Mauermann, Michelle L.
Ortega, Victor E.
Anderson, Sarah A.
Aoudia, Stacy L.
Klee, Eric W.
McAllister, Tammy M.
Lazaridis, Konstantinos N.
SpringerLink (Online service)

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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

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Other Objects (12)

Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Characteristics of patients contacting a center for undiagnosed and rare diseases

Serotonin syndrome: a rare undiagnosed cause of hyperpyrexia

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

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Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases

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Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases

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Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

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Serotonin syndrome: a rare undiagnosed cause of hyperpyrexia

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

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Policy for rare diseases

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Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study

Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases

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