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전체선택

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

학술저널

issue: In Gastroenterology May 2024 166(5):902-914
Author: Ambrose, John C.
Arumugam, Prabhu
Bevers, Roel
Bleda, Marta
Boardman-Pretty, Freya
Boustred, Christopher R.
Brittain, Helen
Caulfield, Mark J.
Chan, Georgia C.
Elgar, Greg
Fowler, Tom
Giess, Adam
Hamblin, Angela
Henderson, Shirley
Hubbard, Tim J.P.
Jackson, Rob
Jones, Louise J.
Kasperaviciute, Dalia
Kayikci, Melis
Kousathanas, Athanasios
Lahnstein, Lea
Leigh, Sarah E.A.
Leong, Ivonne U.S.
Lopez, Javier F.
Maleady-Crowe, Fiona
McEntagart, Meriel
Minneci, Federico
Moutsianas, Loukas
Mueller, Michael
Murugaesu, Nirupa
Need, Anna C.
O’Donovan, Peter
Odhams, Chris A.
Patch, Christine
Pereira, Mariana Buongermino
Perez-Gil, Daniel
Pullinger, John
Rahim, Tahrima
Rendon, Augusto
Rogers, Tim
Savage, Kevin
Sawant, Kushmita
Scott, Richard H.
Siddiq, Afshan
Sieghart, Alexander
Smith, Samuel C.
Sosinsky, Alona
Stuckey, Alexander
Tanguy, Mélanie
Taylor Tavares, Ana Lisa
Thomas, Ellen R.A.
Thompson, Simon R.
Tucci, Arianna
Welland, Matthew J.
Williams, Eleanor
Witkowska, Katarzyna
Wood, Suzanne M.
Schönauer, Ria
Sierks, Dana
Boerrigter, Melissa
Jawaid, Tabinda
Caroff, Lea
Audrezet, Marie-Pierre
Friedrich, Anja
Shaw, Melissa
Degenhardt, Jan
Forberger, Mirjam
de Fallois, Jonathan
Bläker, Hendrik
Bergmann, Carsten
Gödiker, Juliana
Schindler, Philipp
Schlevogt, Bernhard
Müller, Roman-U.
Berg, Thomas
Patterson, Ilse
Griffiths, William J.
Sayer, John A.
Popp, Bernt
Torres, Vicente E.
Hogan, Marie C.
Somlo, Stefan
Watnick, Terry J.
Nevens, Frederik
Besse, Whitney
Cornec-Le Gall, Emilie
Harris, Peter C.
Drenth, Joost P.H.
Halbritter, Jan
DB Label: Database : ScienceDirect

원문보기: Full Text (Clinical Key) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

학술저널

issue: In Kidney International November 2023 104(5):975-984
Author: Ambrose, John C.
Arumugam, Prabhu
Bevers, Roel
Bleda, Marta
Boardman-Pretty, Freya
Boustred, Christopher R.
Brittain, Helen
Caulfield, Mark J.
Chan, Georgia C.
Elgar, Greg
Fowler, Tom
Giess, Adam
Hamblin, Angela
Henderson, Shirley
Hubbard, Tim J.P.
Jackson, Rob
Jones, Louise J.
Kasperaviciute, Dalia
Kayikci, Melis
Kousathanas, Athanasios
Lahnstein, Lea
Leigh, Sarah E.A.
Leong, Ivonne U.S.
Lopez, Javier F.
Maleady-Crowe, Fiona
McEntagart, Meriel
Minneci, Federico
Moutsianas, Loukas
Mueller, Michael
Murugaesu, Nirupa
Need, Anna C.
O’Donovan, Peter
Odhams, Chris A.
Patch, Christine
Pereira, Mariana Buongermino
PerezGil, Daniel
Pullinger, John
Rahim, Tahrima
Rendon, Augusto
Rogers, Tim
Savage, Kevin
Sawant, Kushmita
Scott, Richard H.
Siddiq, Afshan
Sieghart, Alexander
Smith, Samuel C.
Sosinsky, Alona
Stuckey, Alexander
Tanguy, Mélanie
Taylor Tavares, Ana Lisa
Thomas, Ellen R.A.
Thompson, Simon R.
Tucci, Arianna
Welland, Matthew J.
Williams, Eleanor
Witkowska, Katarzyna
Wood, Suzanne M.
Sadeghi-Alavijeh, Omid
Chan, Melanie M.Y.
Moochhala, Shabbir H.
Howles, Sarah
Gale, Daniel P.
Böckenhauer, Detlef
DB Label: Database : ScienceDirect

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

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

학술저널

issue: In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Author: Pochiero, Francesca
Mari, Francesco
Ramesh, Venkateswaran
Capra, Valeria
Mancardi, Margherita
Keren, Boris
Mignot, Cyiril
Lulli, Matteo
Parks, Kendall
Griffin, Helen
Brugger, Melanie
Nigro, Vincenzo
Hirata, Yuko
Koichihara, Reiko
Peterlin, Borut
Maki, Ryuto
Nitta, Yohei
Ambrose, John C.
Arumugam, Prabhu
Bevers, Roel
Bleda, Marta
Boardman-Pretty, Freya
Boustred, Christopher R.
Brittain, Helen
Brown, Matthew A.
Caulfield, Mark J.
Chan, Georgia C.
Giess, Adam
Griffin, John N.
Hamblin, Angela
Henderson, Shirley
Hubbard, Tim J.P.
Jackson, Rob
Jones, Louise J.
Kasperaviciute, Dalia
Kayikci, Melis
Kousathanas, Athanasios
Lahnstein, Lea
Lakey, Anna
Leigh, Sarah E.A.
Leong, Ivonne U.S.
Lopez, Javier F.
Maleady-Crowe, Fiona
McEntagart, Meriel
Minneci, Federico
Mitchell, Jonathan
Moutsianas, Loukas
Mueller, Michael
Murugaesu, Nirupa
Need, Anna C.
O’Donovan, Peter
Odhams, Chris A.
Patch, Christine
Perez-Gil, Daniel
Pereira, Marina B.
Pullinger, John
Rahim, Tahrima
Rendon, Augusto
Rogers, Tim
Savage, Kevin
Sawant, Kushmita
Scott, Richard H.
Siddiq, Afshan
Sieghart, Alexander
Smith, Samuel C.
Sosinsky, Alona
Stuckey, Alexander
Tanguy, Mélanie
Taylor Tavares, Ana Lisa
Thomas, Ellen R.A.
Thompson, Simon R.
Tucci, Arianna
Welland, Matthew J.
Williams, Eleanor
Witkowska, Katarzyna
Wood, Suzanne M.
Zarowiecki, Magdalena
Vetro, Annalisa
Pelorosso, Cristiana
Balestrini, Simona
Masi, Alessio
Hambleton, Sophie
Argilli, Emanuela
Conti, Valerio
Giubbolini, Simone
Barrick, Rebekah
Bergant, Gaber
Writzl, Karin
Bijlsma, Emilia K.
Brunet, Theresa
Cacheiro, Pilar
Mei, Davide
Devlin, Anita
Hoffer, Mariëtte J.V.
Machol, Keren
Mannaioni, Guido
Sakamoto, Masamune
Menezes, Manoj P.
Courtin, Thomas
Sherr, Elliott
Parra, Riccardo
Richardson, Ruth
Roscioli, Tony
Scala, Marcello
von Stülpnagel, Celina
Smedley, Damian
Torella, Annalaura
Tohyama, Jun
Hamada, Keisuke
Ogata, Kazuhiro
Suzuki, Takashi
Sugie, Atsushi
van der Smagt, Jasper J.
van Gassen, Koen
Valence, Stephanie
Vittery, Emma
Malone, Stephen
Kato, Mitsuhiro
Matsumoto, Naomichi
Ratto, Gian Michele
Guerrini, Renzo
DB Label: Database : ScienceDirect

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

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

학술저널

issue: In Kidney International July 2023
Author: Ambrose, John C.
Arumugam, Prabhu
Bevers, Roel
Bleda, Marta
Boardman-Pretty, Freya
Boustred, Christopher R.
Brittain, Helen
Caulfield, Mark J.
Chan, Georgia C.
Elgar, Greg
Fowler, Tom
Giess, Adam
Hamblin, Angela
Henderson, Shirley
Hubbard, Tim J.P.
Jackson, Rob
Jones, Louise J.
Kasperaviciute, Dalia
Kayikci, Melis
Kousathanas, Athanasios
Lahnstein, Lea
Leigh, Sarah E.A.
Leong, Ivonne U.S.
Lopez, Javier F.
Maleady-Crowe, Fiona
McEntagart, Meriel
Minneci, Federico
Moutsianas, Loukas
Mueller, Michael
Murugaesu, Nirupa
Need, Anna C.
O’Donovan, Peter
Odhams, Chris A.
Patch, Christine
Pereira, Mariana Buongermino
Perez-Gil, Daniel
Pullinger, John
Rahim, Tahrima
Rendon, Augusto
Rogers, Tim
Savage, Kevin
Sawant, Kushmita
Scott, Richard H.
Siddiq, Afshan
Sieghart, Alexander
Smith, Samuel C.
Sosinsky, Alona
Stuckey, Alexander
Tanguy, Mélanie
Taylor Tavares, Ana Lisa
Thomas, Ellen R.A.
Thompson, Simon R.
Tucci, Arianna
Welland, Matthew J.
Williams, Eleanor
Witkowska, Katarzyna
Wood, Suzanne M.
Claus, Laura R.
Chen, Chuan
Stallworth, Jennifer
Turner, Joshua L.
Slaats, Gisela
Hawks, Alexandra L.
Mabillard, Holly
Senum, Sarah R.
Srikanth, Sujata
Flanagan-Steet, Heather
Louie, Raymond J.
Silver, Josh
Lerner-Ellis, Jordan
Morel, Chantal
Mighton, Chloe
Sleutels, Frank
van Slegtenhorst, Marjon
van Ham, Tjakko
Brooks, Alice S.
Dorresteijn, Eiske M.
Barakat, Tahsin Stefan
Dahan, Karin
Demoulin, Nathalie
Goffin, Eric Jean
Olinger, Eric
Larsen, Martin
Hertz, Jens Michael
Lilien, Marc R.
Obeidová, Lena
Seeman, Tomas
Stone, Hillarey K.
Kerecuk, Larissa
Gurgu, Mihai
Yousef Yengej, Fjodor A.
Ammerlaan, Carola M.E.
Rookmaaker, Maarten B.
Hanna, Christian
Rogers, R. Curtis
Duran, Karen
Peters, Edith
Sayer, John A.
van Haaften, Gijs
Harris, Peter C.
Ling, Kun
Mason, Jennifer M.
van Eerde, Albertien M.
Steet, Richard
DB Label: Database : ScienceDirect

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

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

학술저널

issue: The Lancet Respiratory Medicine. 7(3)
Author: Rhodes, Christopher J
Batai, Ken
Bleda, Marta
Haimel, Matthias
Southgate, Laura
Germain, Marine
Pauciulo, Michael W
Hadinnapola, Charaka
Aman, Jurjan
Girerd, Barbara
Arora, Amit
Knight, Jo
Hanscombe, Ken B
Karnes, Jason H
Kaakinen, Marika
Gall, Henning
Ulrich, Anna
Harbaum, Lars
Cebola, Inês
Ferrer, Jorge
Lutz, Katie
Swietlik, Emilia M
Ahmad, Ferhaan
Amouyel, Philippe
Archer, Stephen L
Argula, Rahul
Austin, Eric D
Badesch, David
Bakshi, Sahil
Barnett, Christopher
Benza, Raymond
Bhatt, Nitin
Bogaard, Harm J
Burger, Charles D
Chakinala, Murali
Church, Colin
Coghlan, John G
Condliffe, Robin
Corris, Paul A
Danesino, Cesare
Debette, Stéphanie
Elliott, C Gregory
Elwing, Jean
Eyries, Melanie
Fortin, Terry
Franke, Andre
Frantz, Robert P
Frost, Adaani
Garcia, Joe GN
Ghio, Stefano
Ghofrani, Hossein-Ardeschir
Gibbs, J Simon R
Harley, John
He, Hua
Hill, Nicholas S
Hirsch, Russel
Houweling, Arjan C
Howard, Luke S
Ivy, Dunbar
Kiely, David G
Klinger, James
Kovacs, Gabor
Lahm, Tim
Laudes, Matthias
Machado, Rajiv D
Ross, Robert V MacKenzie
Marsolo, Keith
Martin, Lisa J
Moledina, Shahin
Montani, David
Nathan, Steven D
Newnham, Michael
Olschewski, Andrea
Olschewski, Horst
Oudiz, Ronald J
Ouwehand, Willem H
Peacock, Andrew J
Pepke-Zaba, Joanna
Rehman, Zia
Robbins, Ivan
Roden, Dan M
Rosenzweig, Erika B
Saydain, Ghulam
Scelsi, Laura
Schilz, Robert
Seeger, Werner
Shaffer, Christian M
Simms, Robert W
Simon, Marc
Sitbon, Olivier
Suntharalingam, Jay
Tang, Haiyang
Tchourbanov, Alexander Y
Thenappan, Thenappan
Torres, Fernando
Toshner, Mark R
Treacy, Carmen M
Noordegraaf, Anton Vonk
Waisfisz, Quinten
Walsworth, Anna K
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

학술저널

issue: Nature communications. 9(1)
Author: Gräf, Stefan
Haimel, Matthias
Bleda, Marta
Hadinnapola, Charaka
Southgate, Laura
Li, Wei
Hodgson, Joshua
Liu, Bin
Salmon, Richard M
Southwood, Mark
Machado, Rajiv D
Martin, Jennifer M
Treacy, Carmen M
Yates, Katherine
Daugherty, Louise C
Shamardina, Olga
Whitehorn, Deborah
Holden, Simon
Aldred, Micheala
Bogaard, Harm J
Church, Colin
Coghlan, Gerry
Condliffe, Robin
Corris, Paul A
Danesino, Cesare
Eyries, Mélanie
Gall, Henning
Ghio, Stefano
Ghofrani, Hossein-Ardeschir
Gibbs, J Simon R
Girerd, Barbara
Houweling, Arjan C
Howard, Luke
Humbert, Marc
Kiely, David G
Kovacs, Gabor
MacKenzie Ross, Robert V
Moledina, Shahin
Montani, David
Newnham, Michael
Olschewski, Andrea
Olschewski, Horst
Peacock, Andrew J
Pepke-Zaba, Joanna
Prokopenko, Inga
Rhodes, Christopher J
Scelsi, Laura
Seeger, Werner
Soubrier, Florent
Stein, Dan F
Suntharalingam, Jay
Swietlik, Emilia M
Toshner, Mark R
van Heel, David A
Vonk Noordegraaf, Anton
Waisfisz, Quinten
Wharton, John
Wort, Stephen J
Ouwehand, Willem H
Soranzo, Nicole
Lawrie, Allan
Upton, Paul D
Wilkins, Martin R
Trembath, Richard C
Morrell, Nicholas W
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

학술저널