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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

학술저널

issue: In Genetics in Medicine November 2023 25(11)
Author: Callejo, Emily P.
Day, Kristina M.
Macaya, Daniela
Maldonado-Velez, Gabriel
Archer, Stephen L.
Auckland, Kathryn
Austin, Eric D.
Badagliacca, Roberto
Barberà, Joan-Albert
Belge, Catharina
Bogaard, Harm Jan
Bonnet, Sébastien
Boomars, Karin A.
Boucherat, Olivier
Chakinala, Murali M.
Condliffe, Robin
Damico, Rachel Lynn
Delcroix, Marion
Desai, Ankit A.
Doboszynska, Anna
Elliott, C. Greg
Eyries, Melanie
Escribano Subías, Maria Pilar
Gall, Henning
Ghio, Stefano
Ghofrani, Ardeschir-Hossein
Grünig, Ekkehard
Hamid, Rizwan
Harbaum, Lars
Hassoun, Paul M.
Hemnes, Anna R.
Hinderhofer, Katrin
Howard, Luke S.
Humbert, Marc
Kiely, David G.
Langleben, David
Lawrie, Allan
Loyd, Jim E.
Moledina, Shahin
Montani, David
Morrell, Nichols W.
Nichols, William C.
Olschewski, Andrea
Olschewski, Horst
Papa, Silvia
Pauciulo, Mike W.
Provencher, Steve
Quarck, Rozenn
Rhodes, Christopher J.
Scelsi, Laura
Seeger, Werner
Stewart, Duncan J.
Sweatt, Andrew
Swietlik, Emilia M.
Treacy, Carmen
Trembath, Richard C.
Tura-Ceide, Olga
Vizza, Carmine Dario
Vonk Noordegraaf, Anton
Wilkins, Martin R.
Zamanian, Roham T.
Zateyshchikov, Dmitry
Welch, Carrie L.
Aldred, Micheala A.
Balachandar, Srimmitha
Dooijes, Dennis
Eichstaedt, Christina A.
Gräf, Stefan
Houweling, Arjan C.
Machado, Rajiv D.
Pandya, Divya
Prapa, Matina
Shaukat, Memoona
Southgate, Laura
Tenorio-Castano, Jair
Chung, Wendy K.
DB Label: Database : ScienceDirect

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

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

학술저널

issue: GENETICS IN MEDICINE; NOV 2023, 25 11, p100925 20p.
Author: Welch, Carrie L.
Aldred, Micheala A.
Balachandar, Srimmitha
Dooijes, Dennis
Eichstaedt, Christina A.
Graef, Stefan
Houweling, Arjan C.
Machado, Rajiv D.
Pandya, Divya
Prapa, Matina
Shaukat, Memoona
Southgate, Laura
Tenorio-Castano, Jair
Chung, Wendy K.
ClinGen PH VCEP
PVRI
DB Label: Database : Science Citation Index Expanded

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

Morphology of the Ascending Aorta in Bicuspid Aortic Valve Disease

전자책

issue: Surgical Management of Aortic Pathology : Current Fundamentals for the Clinical Management of Aortic Disease. :553-559
Author: Prapa, Matina^Aff4
Gatzoulis, M. A.^Aff5
DB Label: Database : Springer Nature eBooks

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Congenital Aortopathy

전자책

issue: Surgical Management of Aortic Pathology : Current Fundamentals for the Clinical Management of Aortic Disease. :503-511
Author: Prapa, Matina^Aff4
Gatzoulis, M. A.^Aff5
DB Label: Database : Springer Nature eBooks

원문보기

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

학술저널

issue: AMERICAN JOURNAL OF HUMAN GENETICS; JUN 1 2023, 110 6, p963-p978, 17p.
Author: Rots, Dmitrijs
Jakub, Taryn E.
Keung, Crystal
Lisenka, Vissers E. L. M.
Banka, Siddharth
Pfundt, Rolph
de Vries, Bert B. A.
van Jaarsveld, Richard H.
Hopman, Saskia M. J.
van Binsbergen, Ellen
Valenzuela, Irene
Hempel, Maja
Bierhals, Tatjana
Kortuem, Fanny
Lecoquierre, Francois
Goldenberg, Alice
Hertz, Jens Michael
Andersen, Charlotte Brasch
Kibaek, Maria
Prijoles, Eloise J.
Stevenson, Roger E.
Everman, David B.
Patterson, Wesley G.
Meng, Linyan
Gijavanekar, Charul
De Dios, Karl
Lakhani, Shenela
Levy, Tess
Wagner, Matias
Wieczorek, Dagmar
Benke, Paul J.
Garcia, Maria Soledad Lopez
Perrier, Renee
Sousa, Sergio B.
Almeida, Pedro M.
Simoes, Maria Jose
Isidor, Bertrand
Deb, Wallid
Schmanski, Andrew A.
Abdul-Rahman, Omar
Philippe, Christophe
Bruel, Ange-Line
Faivre, Laurence
Vitobello, Antonio
Thauvin, Christel
Smits, Jeroen J.
Garavelli, Livia
Caraffi, Stefano G.
Peluso, Francesca
Davis-Keppen, Laura
Platt, Dylan
Royer, Erin
Leeuwen, Lisette
Sinnema, Margje
Stegmann, Alexander P. A.
Stumpel, Constance T. R. M.
Tiller, George E.
Bosch, Danielle G. M.
Potgieter, Stephanus T.
Joss, Shelagh
Splitt, Miranda
Holden, Simon
Prapa, Matina
Foulds, Nicola
Douzgou, Sofia
Puura, Kaija
Waltes, Regina
Chiocchetti, Andreas G.
Freitag, Christine M.
Satterstrom, F. Kyle
De Rubeis, Silvia
Buxbaum, Joseph
Gelb, Bruce D.
Branko, Aleksic
Kushima, Itaru
Howe, Jennifer
Scherer, Stephen W.
Arado, Alessia
Baldo, Chiara
Patat, Olivier
Benedicte, Demeer
Lopergolo, Diego
Santorelli, Filippo M.
Haack, Tobias B.
Dufke, Andreas
Bertrand, Miriam
Falb, Ruth J.
Riess, Angelika
Krieg, Peter
Spranger, Stephanie
Bedeschi, Maria Francesca
Iascone, Maria
Josephi-Taylor, Sarah
Roscioli, Tony
Buckley, Michael F.
Liebelt, Jan
Dagli, Aditi I.
Aten, Emmelien
Hurst, Anna C. E.
Hicks, Alesha
Suri, Mohnish
Aliu, Ermal
Naik, Sunil
Sidlow, Richard
Coursimault, Juliette
Nicolas, Gael
Kuepper, Hanna
Petit, Florence
Ibrahim, Veyan
Top, Deniz
Di Cara, Francesca
Louie, Raymond J.
Stolerman, Elliot
Brunner, Han G.
Vissers, Lisenka E. L. M.
Kramer, Jamie M.
Kleefstra, Tjitske
Genomics England Res Consortium
DB Label: Database : Science Citation Index Expanded

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

Molecular Function and Contribution of TBX4 in Development and Disease

학술저널

issue: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE; APR 1 2023, 207 7, p855-p864, 10p.
Author: Karolak, Justyna A.
Welch, Carrie L.
Mosimann, Christian
Bzdega, Katarzyna
West, James D.
Montani, David
Eyries, Melanie
Mullen, Mary P.
Abman, Steven H.
Prapa, Matina
Graf, Stefan
Morrell, Nicholas W.
Hemnes, Anna R.
Perros, Frederic
Hamid, Rizwan
Logan, Malcolm P. O.
Whitsett, Jeffrey
Galambos, Csaba
Stankiewicz, Pawel
Chung, Wendy K.
Austin, Eric D.
TBX4Life Initiative
DB Label: Database : Science Citation Index Expanded

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

Human Genetics of Semilunar Valve and Aortic Arch Anomalies

전자책

issue: Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways. :501-512
Author: Prapa, Matina^Aff4
Ho, Siew Yen^Aff5
DB Label: Database : Springer Nature eBooks

원문보기

First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease

학술저널

issue: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE; DEC 15 2022, 206 12, p1522-p1533, 12p.
Author: Prapa, Matina
Lago-Docampo, Mauro
Swietlik, Emilia M.
Montani, David
Eyries, Melanie
Humbert, Marc
Welch, Carrie L.
Chung, Wendy K.
Berger, Rolf M. F.
Bogaard, Harm Jan
Danhaive, Olivier
Escribano-Subias, Pilar
Gall, Henning
Girerd, Barbara
Hernandez-Gonzalez, Ignacio
Holden, Simon
Hunt, David
Jansen, Samara M. A.
Kerstjens-Frederikse, Wilhelmina
Kiely, David G.
Lapunzina, Pablo
McDermott, John
Moledina, Shahin
Pepke-Zaba, Joanna
Polwarth, Gary J.
Schotte, Gwen
Tenorio-Castano, Jair
Thompson, A. A. Roger
Wharton, John
Wort, Stephen J.
Megy, Karyn
Mapeta, Rutendo
Treacy, Carmen M.
Martin, Jennifer M.
Li, Wei
Swift, Andrew J.
Upton, Paul D.
Morrell, Nicholas W.
Graf, Stefan
Valverde, Diana
Nihr Bioresource Translational Res
Natl Cohort Study Idiopathic Herit
PAH Biobank Enrolling Ctr Investig
DB Label: Database : Science Citation Index Expanded

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

Molecular Function and Contribution of in Development and Disease.

학술저널

issue: American Journal of Respiratory & Critical Care Medicine (AM J RESPIR CRIT CARE MED), 4/1/2023; 207(7): 855-864. (10p)
Author: Karolak, Justyna A.; ¹Welch, Carrie L.; ²Mosimann, Christian; ³Bzdęga, Katarzyna; ¹West, James D.; ⁴Montani, David; ⁵Eyries, Mélanie; ⁶Mullen, Mary P.; ^7,8Abman, Steven H.; ⁹Prapa, Matina; ¹⁰Gräf, Stefan; ¹¹Morrell, Nicholas W.; ¹¹Hemnes, Anna R.; ⁴Perros, Frédéric; ⁵Hamid, Rizwan; ¹²Logan, Malcolm P. O.; ¹³Whitsett, Jeffrey; ^14,15Galambos, Csaba; ¹⁶Stankiewicz, Paweł; ¹⁷Chung, Wendy K.^2,18; et al
DB Label: Database : CINAHL Plus with Full Text

원문보기: Full Text(ECC) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Eisenmenger Syndrome and Other Types of Pulmonary Arterial Hypertension Related to Congenital Heart Disease

전자책

issue: Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care. :2481-2494
Author: Dimopoulos, Konstantinos^Aff4
Prapa, Matina^Aff4
Gatzoulis, Michael A.^Aff4
DB Label: Database : Springer Nature eBooks

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