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PQDT
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전체선택

Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis

학술저널

issue: Lung: Publishing continuously since 1903. 202(2):151-156
Author: Alrehaili, Ghadah
Kemppainen, Jennifer^{Aff2, Aff3}
Kalra, Sanjay
Pinto e Vairo, Filippo^{Aff2, Aff3}
Moua, Teng
Yi, Eunhee S.
Ferrer, Alejandro
Patnaik, Mrinal M.
Carmona, Eva M.^{Aff1, IDs00408024006853_cor9}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

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

학술저널

issue: Journal of Translational Medicine. 21(1)
Author: Pinto e Vairo, Filippo^{Aff1, Aff2}
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, III, 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, Jr., 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.^{Aff1, Aff2, Aff29}
McAllister, Tammy M.
Lazaridis, Konstantinos N.^{Aff1, Aff24, IDs12967023041837_cor63}
DB Label: Database : Springer Nature Journals

원문보기: Full Text (원문보기) Full Text (원문보기) Open Access (BioMed Central) OA (Springer) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Early role for a Na+,K+-ATPase (ATP1A3) in brain development

학술저널

issue: Proceedings of the National Academy of Sciences of the United States of America. 118(25)
Author: Smith, Richard S
Florio, Marta
Akula, Shyam K
Neil, Jennifer E
Wang, Yidi
Hill, R Sean
Goldman, Melissa
Mullally, Christopher D
Reed, Nora
Bello-Espinosa, Luis
Flores-Sarnat, Laura
Monteiro, Fabiola Paoli
Erasmo, Casella B
Pinto E Vairo, Filippo
Morava, Eva
Barkovich, A James
Gonzalez-Heydrich, Joseph
Brownstein, Catherine A
McCarroll, Steven A
Walsh, Christopher A
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

학술저널

issue: BMC GENOMICS; APR 16 2024, 25 1, p371 16p.
Author: Fadra, Numrah
Schultz-Rogers, Laura E.
Chanana, Pritha
Cousin, Margot A.
Macke, Erica L.
Ferrer, Alejandro
Pinto e Vairo, Filippo
Olson, Rory J.
Oliver, Gavin R.
Mulvihill, Lindsay A.
Jenkinson, Garrett
Klee, Eric W.
DB Label: Database : Science Citation Index Expanded

원문보기: Open Access (BioMed Central) OA (Springer) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

학술저널

issue: Biological psychiatry. 87(2)
Author: Johnson, Brett V
Kumar, Raman
Oishi, Sabrina
Alexander, Suzy
Kasherman, Maria
Vega, Michelle Sanchez
Ivancevic, Atma
Gardner, Alison
Domingo, Deepti
Corbett, Mark
Parnell, Euan
Yoon, Sehyoun
Oh, Tracey
Lines, Matthew
Lefroy, Henrietta
Kini, Usha
Van Allen, Margot
Grønborg, Sabine
Mercier, Sandra
Küry, Sébastien
Bézieau, Stéphane
Pasquier, Laurent
Raynaud, Martine
Afenjar, Alexandra
Billette de Villemeur, Thierry
Keren, Boris
Désir, Julie
Van Maldergem, Lionel
Marangoni, Martina
Dikow, Nicola
Koolen, David A
VanHasselt, Peter M
Weiss, Marjan
Zwijnenburg, Petra
Sa, Joaquim
Reis, Claudia Falcao
López-Otín, Carlos
Santiago-Fernández, Olaya
Fernández-Jaén, Alberto
Rauch, Anita
Steindl, Katharina
Joset, Pascal
Goldstein, Amy
Madan-Khetarpal, Suneeta
Infante, Elena
Zackai, Elaine
Mcdougall, Carey
Narayanan, Vinodh
Ramsey, Keri
Mercimek-Andrews, Saadet
Pena, Loren
Shashi, Vandana
Undiagnosed Diseases Network
Schoch, Kelly
Sullivan, Jennifer A
Pinto E Vairo, Filippo
Pichurin, Pavel N
Ewing, Sarah A
Barnett, Sarah S
Klee, Eric W
Perry, M Scott
Koenig, Mary Kay
Keegan, Catherine E
Schuette, Jane L
Asher, Stephanie
Perilla-Young, Yezmin
Smith, Laurie D
Rosenfeld, Jill A
Bhoj, Elizabeth
Kaplan, Paige
Li, Dong
Oegema, Renske
van Binsbergen, Ellen
van der Zwaag, Bert
Smeland, Marie Falkenberg
Cutcutache, Ioana
Page, Matthew
Armstrong, Martin
Lin, Angela E
Steeves, Marcie A
Hollander, Nicolette den
Hoffer, Mariëtte JV
Reijnders, Margot RF
Demirdas, Serwet
Koboldt, Daniel C
Bartholomew, Dennis
Mosher, Theresa Mihalic
Hickey, Scott E
Shieh, Christine
Sanchez-Lara, Pedro A
Graham, John M
Tezcan, Kamer
Schaefer, GB
Danylchuk, Noelle R
Asamoah, Alexander
Jackson, Kelly E
Yachelevich, Naomi
Au, Margaret
Pérez-Jurado, Luis A
Kleefstra, Tjitske
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

학술저널

issue: BMC Rheumatology. 6(1)
Author: Wilke, Matheus V. M. B.
Morava-Kozicz, Eva^{Aff2, Aff3, IDs4192702200281z_cor2}
Koster, Matthew J.
Schmitz, Christopher T.^{Aff1, Aff3}
Foster, Shannon Kaye
Patnaik, Mrinal
Warrington, Kenneth J.
Klee, Eric W.^{Aff1, Aff2, Aff7}
Pinto e Vairo, Filippo^{Aff1, Aff2}
DB Label: Database : Springer Nature Journals

원문보기: Open Access (BioMed Central) OA (Springer) 등재 - SCOPUS

An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report

학술저널

issue: GENETICS AND MOLECULAR BIOLOGY; 2024, 47 1, pe20220335 6p.
Author: Donis, Karina Carvalho
Kalil, Marco Antonio Baptista
Poswar, Fabiano
Kok, Fernando
Kohem, Charles Lubianca
Poloni, Soraia
Borsatto, Taciane
Pinto e Vairo, Filippo
Pinheiro, Franciele Cabral
Schwartz, Ida Vanessa Doederlein
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

GBA1 variants in Brazilian Gaucher disease patients

학술저널

issue: MOLECULAR GENETICS AND METABOLISM REPORTS; DEC 2023, 37 p101006 7p.
Author: Basgalupp, Suelen Porto
Altmann, Vivian
Pinto e Vairo, Filippo
Schwartz, Ida Vanessa Doederlein
Siebert, Marina
Brazilian Collaborative Grp
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

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

학술저널