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Cell reports (Cambridge), 2016-11, Vol.17 (8), p.2137-2150
- Breeze, Charles E.
- Paul, Dirk S.
- van Dongen, Jenny
- Butcher, Lee M.
- Ambrose, John C.
- Barrett, James E.
- Lowe, Robert
- Rakyan, Vardhman K.
- Iotchkova, Valentina
- Frontini, Mattia
- Downes, Kate
- Ouwehand, Willem H.
- Laperle, Jonathan
- Jacques, Pierre-Étienne
- Bourque, Guillaume
- Bergmann, Anke K.
- Siebert, Reiner
- Vellenga, Edo
- Saeed, Sadia
- Matarese, Filomena
- Martens, Joost H.A.
- Stunnenberg, Hendrik G.
- Teschendorff, Andrew E.
- Herrero, Javier
- Birney, Ewan
- Dunham, Ian
- Beck, Stephan
2016
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PloS one, 2014-01, Vol.9 (1), p.e83337-e83337
2014
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Brain (London, England : 1878), 2023-09, Vol.146 (9), p.3885-3897
- Martins Custodio, Helena
- Clayton, Lisa M
- Bellampalli, Ravishankara
- Pagni, Susanna
- Silvennoinen, Katri
- Caswell, Richard
- Brunklaus, Andreas
- Guerrini, Renzo
- Koeleman, Bobby P C
- Lemke, Johannes R
- Møller, Rikke S
- Scheffer, Ingrid E
- Weckhuysen, Sarah
- Zara, Federico
- Zuberi, Sameer
- Kuchenbaecker, Karoline
- Balestrini, Simona
- Mills, James D
- Sisodiya, Sanjay M
2023
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Gastroenterology (New York, N.Y. 1943), 2024-05, Vol.166 (5), p.902-914
- 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.
- 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.
- 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
2024
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Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2869-2884
- Chen, Zhongbo
- Tucci, Arianna
- Cipriani, Valentina
- Gustavsson, Emil K
- Ibañez, Kristina
- Reynolds, Regina H
- Zhang, David
- Vestito, Letizia
- García, Alejandro Cisterna
- Sethi, Siddharth
- Brenton, Jonathan W
- García-Ruiz, Sonia
- Fairbrother-Browne, Aine
- Gil-Martinez, Ana-Luisa
- Wood, Nick
- Hardy, John A
- Smedley, Damian
- Houlden, Henry
- Botía, Juan
- Ryten, Mina
2023
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Human molecular genetics, 2005-11, Vol.14 (22), p.3463-3476
2005
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Nucleic acids research, 2017-09, Vol.45 (16), p.9398
2017
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Genetics in Medicine Open, 2024, Vol.2, p.101834, Article 101834
- Olinger, Eric
- Wilson, Ian J.
- Orr, Sarah
- Barroso-Gil, Miguel
- Neatu, Ruxandra
- 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.
- Atan, Denize
- Sayer, John A.
2024
Link zum Volltext
Lancet neurology, 2022-03, Vol.21 (3), p.234-245
- Ibañez, Kristina
- Polke, James
- Hagelstrom, R Tanner
- Dolzhenko, Egor
- Pasko, Dorota
- Thomas, Ellen Rachel Amy
- Smith, Katherine R
- McDonagh, Ellen M
- Polychronopoulos, Dimitris
- Chan, Georgia
- Davison, James E
- Festenstein, Richard
- Fratta, Pietro
- Giunti, Paola
- Howard, Robin
- Venkata, Laxmi
- Laurá, Matilde
- Morris, Huw
- Robinson, Robert
- Rosser, Elisabeth
- Faravelli, Francesca
- Schrag, Anette
- Schott, Jonathan M
- Wood, Nicholas W
- Bourn, David
- Eggleton, Kelly
- Twiss, Philip
- Almheiri, Ghareesa
- Sheikh, Isabella
- Vandrovcova, Jana
- Brittain, Helen
- Baple, Emma
- Moutsianas, Loukas
- Deshpande, Viraj
- Perry, Denise L
- Ajay, Subramanian S.
- Rajan, Vani
- Oprych, Kathryn
- Chinnery, Patrick F
- Wilson, Gill
- Ellard, Sian
- Temple, I Karen
- McMullan, Dom
- Naresh, Kikkeri
- Flinter, Frances A
- Taylor, Jenny C
- Greenhalgh, Lynn
- Newman, William
- Brennan, Paul
- Sayer, John A
- Raymond, F Lucy
- Deans, Zandra C
- Hill, Sue
- Fowler, Tom
- Scott, Richard H
- Rendon, Augusto
- Eberle, Michael A
- Taft, Ryan J
- Arumugam, Prabhu
- Bleda, Marta
- Boardman-Pretty, Freya
- Boissiere, Jeanne M.
- Devereau, Andrew
- Elgar, Greg
- Foulger, Rebecca E.
- Furió-Tarí, Pedro
- Hackett, Joanne
- Hamblin, Angela
- Holman, James
- Hubbard, Tim J.P.
- Jones, Louise J.
- Kayikci, Melis
- Lawson, Kay
- Leigh, Sarah E.A.
- Leong, Ivonne U.S.
- Maleady-Crowe, Fiona
- Mason, Joanne
- Mueller, Michael
- Murugaesu, Nirupa
- Odhams, Chris A.
- Perez-Gil, Daniel
- Pullinger, John
- Rahim, Tahrima
- Riesgo-Ferreiro, Pablo
- Ryten, Mina
- Savage, Kevin
- Sawant, Kushmita
- Sieghart, Alexander
- Smedley, Damian
- Sosinsky, Alona
- Spooner, William
- Stevens, Helen E.
- Stuckey, Alexander
- Sultana, Razvan
- Tregidgo, Carolyn
- Walsh, Emma
- Watters, Sarah A.
- Williams, Eleanor
- Zarowiecki, Magdalena
2022
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BMJ (Online), 2021-11, Vol.375, p.e066288
- Schon, Katherine R
- Horvath, Rita
- Wei, Wei
- Calabrese, Claudia
- Tucci, Arianna
- Ibañez, Kristina
- Ratnaike, Thiloka
- Pitceathly, Robert D S
- Bugiardini, Enrico
- Quinlivan, Rosaline
- Hanna, Michael G
- Clement, Emma
- Ashton, Emma
- Sayer, John A
- Brennan, Paul
- Josifova, Dragana
- Izatt, Louise
- Fratter, Carl
- Nesbitt, Victoria
- Barrett, Timothy
- McMullen, Dominic J
- Smith, Audrey
- Deshpande, Charulata
- Smithson, Sarah F
- Festenstein, Richard
- Canham, Natalie
- Caulfield, Mark
- Houlden, Henry
- Rahman, Shamima
- Chinnery, Patrick F
2021
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Neuron (Cambridge, Mass.), 2021-02, Vol.109 (3), p.448-460.e4
- Dewan, Ramita
- Keagle, Pamela
- Bacikova, Dagmar
- Soltis, Anthony R.
- Kost, Jason
- Colombrita, Claudia
- Lewis, Elizabeth A.
- Pensato, Viviana
- Castellotti, Barbara
- McLaughlin, Russell L.
- Comi, Giacomo P.
- Ceroni, Mauro
- Gagliardi, Stella
- van Blitterswijk, Marka
- Corrado, Lucia
- Sorarù, Gianni
- Williams, Kelly L.
- Morrison, Karen E.
- Veldink, Jan H.
- Brown, Robert H.
- Ambrose, John C.
- Brittain, H.
- Elgar, Greg
- Halai, Dina
- Holman, James E.
- Jackson, Rob
- Leong, Ivonne U.S.
- Maleady-Crowe, Fiona
- Mason, Joanne
- Riesgo-Ferreiro, Pablo
- Rogers, Tim
- Watters, Sarah A.
- Arepalli, Sampath
- Chiò, Adriano
- Dunckley, Travis L.
- Faghri, Faraz
- Feldman, Eva
- Floeter, Mary Kay
- Gerhard, Glenn
- Jansson, Lilja
- Kirby, Janine
- Mora, Gabriele
- Nalls, Mike A.
- Pulst, Stefan M.
- Ravits, John M.
- Renton, Alan E.
- Robberecht, Wim
- Robey, Ian
- Dols-Icardo, Oriol
- Illán-Gala, Ignacio
- Lleó, Alberto
- Khoshnood, Behzad
- Sorbi, Sandro
- Pastor, Pau
- Bigio, Eileen H.
- Black, Sandra E.
- Brunetti, Maura
- Canosa, Antonio
- Gan-Or, Ziv
- Goate, Alison
- Hupalo, Daniel
- Infante, Jon
- Kaufmann, Horacio
- Kim, Ronald C.
- Krüger, Rejko
- Logroscino, Giancarlo
- Love, Seth
- Mao, Qinwen
- Masliah, Eliezer
- Pletnikova, Olga
- Reynolds, Regina H.
- Scherzer, Clemens R.
- Serrano, Geidy E.
- Xiromerisiou, Georgia
- Phatnani, Hemali
- Kwan, Justin
- Broach, James R.
- Arcila-Londono, Ximena
- Malaspina, Andrea
- Thompson, Leslie M.
- Dardiotis, Efthimios
- Chandran, Siddharthan
- Butovsky, Oleg
- Dubnau, Joshua
- Harms, Matt
- Poss, Mary
- Phillips-Cremins, Jennifer
- Altschuler, Steven
- Hu, Michele T.M.
- Leigh, P. Nigel
- Massey, Luke A.
- Pavese, Nicola
- Vaughan, Jenny
- Rowe, James B.
- Ghidoni, Roberta
- Ryten, Mina
- Tanaka, Toshiko
- Ferrucci, Luigi
- Vonsattel, Jean Paul
- Landers, John E.
2021
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Nature (London), 2022-02, Vol.602 (7898), p.623-631
2022
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American journal of human genetics, 2023-08, Vol.110 (8), p.1356-1376
- Vetro, Annalisa
- Pelorosso, Cristiana
- Balestrini, Simona
- Masi, Alessio
- Hambleton, Sophie
- Argilli, Emanuela
- Giubbolini, Simone
- Barrick, Rebekah
- Bergant, Gaber
- Writzl, Karin
- Bijlsma, Emilia K.
- Cacheiro, Pilar
- Mei, Davide
- Devlin, Anita
- Machol, Keren
- Mannaioni, Guido
- Sakamoto, Masamune
- Menezes, Manoj P.
- Courtin, Thomas
- Sherr, Elliott
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- Richardson, Ruth
- Roscioli, Tony
- Scala, Marcello
- von Stülpnagel, Celina
- Smedley, Damian
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- Ramesh, Venkateswaran
- Capra, Valeria
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- Ambrose, John C.
- Arumugam, Prabhu
- Bevers, Roel
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- Boustred, Christopher R.
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- 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
- Lopez, Javier F.
- Maleady-Crowe, Fiona
- Minneci, Federico
- Mueller, Michael
- Murugaesu, Nirupa
- Need, Anna C.
- O’Donovan, Peter
- Odhams, Chris A.
- Patch, Christine
- Rahim, Tahrima
- Rendon, Augusto
- Sawant, Kushmita
- Siddiq, Afshan
- Sieghart, Alexander
- Smith, Samuel C.
- Stuckey, Alexander
- Tanguy, Mélanie
- Taylor Tavares, Ana Lisa
- Thomas, Ellen R.A.
- Tucci, Arianna
- Welland, Matthew J.
- Williams, Eleanor
- Witkowska, Katarzyna
- Wood, Suzanne M.
- Zarowiecki, Magdalena
- Torella, Annalaura
- Tohyama, Jun
- Hamada, Keisuke
- Ogata, Kazuhiro
- Sugie, Atsushi
- van der Smagt, Jasper J.
- van Gassen, Koen
- Valence, Stephanie
- Vittery, Emma
- Malone, Stephen
- Kato, Mitsuhiro
- Ratto, Gian Michele
- Guerrini, Renzo
2023
Link zum Volltext
Kidney international, 2023-11, Vol.104 (5), p.995-1007
- Claus, Laura R
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2023
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Scientific reports, 2021-02, Vol.11 (1), p.3962-13, Article 3962
2021
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Kidney international, 2023-11, Vol.104 (5), p.975-984
2023
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Journal of medical genetics, 2024-06, Vol.61 (6), p.605
2024
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Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600
- Pagnamenta, Alistair T
- Kaiyrzhanov, Rauan
- Zou, Yaqun
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2021
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Journal of medical genetics, 2022-08, Vol.59 (8), p.737
2022
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Genetics in medicine, 2021-12, Vol.23 (12), p.2360-2368
- Hyder, Zerin
- Calpena, Eduardo
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2021
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Ophthalmology (Rochester, Minn.), 2023-01, Vol.130 (1), p.68-76
- Yahya, Samar
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- Poulter, James A.
- McKibbin, Martin
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- 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.
2023
Link zum Volltext
Genetics in medicine, 2022-06, Vol.24 (6), p.1261-1273
- Al-Jawahiri, Reem
- Foroutan, Aidin
- McConkey, Haley
- Levy, Michael
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- Castle, Bruce
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- Semina, Elena V.
- Nickerson, Deborah
- Bamshad, Michael
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- Chandler, Kate
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- Pitteloud, Nelly
- Bartoloni, Lucia
- Hoffjan, Sabine
- Park, Soo-Mi
- Thankamony, Ajay
- Lees, Melissa
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- Agolini, Emanuele
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- Tessarech, Marine
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- Boardman-Pretty, Freya
- Boustred, Christopher R.
- Brittain, Helen
- Caulfield, Mark J.
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- Fowler, Tom
- Giess, Adam
- Hamblin, Angela
- Henderson, Shirley
- Hubbard, Tim J.P.
- Jones, Louise J.
- Kasperaviciute, Dalia
- Kayikci, Melis
- Kousathanas, Athanasios
- Lahnstein, Lea
- Leigh, Sarah E.A.
- Leong, Ivonne U.S.
- Lopez, Javier F.
- FionaMaleady-Crowe
- McEntagart, Meriel
- Minneci, Federico
- Moutsianas, Loukas
- Mueller, Michael
- Murugaesu, Nirupa
- Need, Anna C.
- Odhams, Chris A.
- Patch, Christine
- Perez-Gil, Daniel
- Pullinger, John
- Rendon, Augusto
- TimRogers
- Savage, Kevin
- Sawant, Kushmita
- Scott, Richard H.
- Siddiq, Afshan
- Sieghart, Alexander
- Smith, Samuel C.
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