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Human mutation, 2018-11, Vol.39 (11), p.1631-1640
- Iacocca, Michael A.
- Chora, Joana R.
- Carrié, Alain
- Freiberger, Tomáš
- Leigh, Sarah E.
- Defesche, Joep C.
- Kurtz, C. Lisa
- DiStefano, Marina T.
- Santos, Raul D.
- Humphries, Steve E.
- Mata, Pedro
- Jannes, Cinthia E.
- Hooper, Amanda J.
- Wilemon, Katherine A.
- Benlian, Pascale
- O'Connor, Robert
- Garcia, John
- Wand, Hannah
- Tichy, Lukáš
- Sijbrands, Eric J.
- Hegele, Robert A.
- Bourbon, Mafalda
- Knowles, Joshua W.
2018
Link zum Volltext
Genetics in medicine, 2022-02, Vol.24 (2), p.293-306
- Chora, Joana R.
- Iacocca, Michael A.
- Tichý, Lukáš
- Wand, Hannah
- Kurtz, C. Lisa
- Zimmermann, Heather
- Leon, Annette
- Williams, Maggie
- Humphries, Steve E.
- Hooper, Amanda J.
- Trinder, Mark
- Brunham, Liam R.
- Costa Pereira, Alexandre
- Jannes, Cinthia E.
- Chen, Margaret
- Chonis, Jessica
- Wang, Jian
- Kim, Serra
- Johnston, Tami
- Soucek, Premysl
- Kramarek, Michal
- Leigh, Sarah E.
- Carrié, Alain
- Sijbrands, Eric J.
- Hegele, Robert A.
- Freiberger, Tomáš
- Knowles, Joshua W.
- Bourbon, Mafalda
2022
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Annals of human genetics, 2012-09, Vol.76 (5), p.387-401
2012
Link zum Volltext
Journal of the American College of Cardiology, 2018-08, Vol.72 (6), p.662-680
- Sturm, Amy C
- Knowles, Joshua W
- Gidding, Samuel S
- Ahmad, Zahid S
- Ahmed, Catherine D
- Ballantyne, Christie M
- Baum, Seth J
- Bourbon, Mafalda
- Carrié, Alain
- Cuchel, Marina
- de Ferranti, Sarah D
- Defesche, Joep C
- Freiberger, Tomas
- Hershberger, Ray E
- Hovingh, G Kees
- Karayan, Lala
- Kastelein, Johannes Jacob Pieter
- Kindt, Iris
- Lane, Stacey R
- Leigh, Sarah E
- Linton, MacRae F
- Mata, Pedro
- Neal, William A
- Nordestgaard, Børge G
- Santos, Raul D
- Harada-Shiba, Mariko
- Sijbrands, Eric J
- Stitziel, Nathan O
- Yamashita, Shizuya
- Wilemon, Katherine A
- Ledbetter, David H
- Rader, Daniel J
2018
Link zum Volltext
Annals of human genetics, 2013-01, Vol.77 (1), p.22-30
2013
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Genetics in medicine, 2022-08, Vol.24 (8), p.1732-1742
- DiStefano, Marina T.
- Goehringer, Scott
- Babb, Lawrence
- Alkuraya, Fowzan S.
- Amberger, Joanna
- Amin, Mutaz
- Austin-Tse, Christina
- Balzotti, Marie
- Berg, Jonathan S.
- Birney, Ewan
- Bocchini, Carol
- Bruford, Elspeth A.
- Coffey, Alison J.
- Collins, Heather
- Cunningham, Fiona
- Daugherty, Louise C.
- Einhorn, Yaron
- Firth, Helen V.
- Fitzpatrick, David R.
- Foulger, Rebecca E.
- Goldstein, Jennifer
- Hamosh, Ada
- Hurles, Matthew R.
- Leigh, Sarah E.
- Leong, Ivone U.S.
- Maddirevula, Sateesh
- Martin, Christa L.
- McDonagh, Ellen M.
- Olry, Annie
- Puzriakova, Arina
- Radtke, Kelly
- Ramos, Erin M.
- Rath, Ana
- Riggs, Erin Rooney
- Roberts, Angharad M.
- Rodwell, Charlotte
- Snow, Catherine
- Stark, Zornitza
- Tahiliani, Jackie
- Tweedie, Susan
- Ware, James S.
- Weller, Phillip
- Williams, Eleanor
- Wright, Caroline F.
- Yates, Thabo Michael
- Rehm, Heidi L.
2022
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Atherosclerosis, 2013-07, Vol.229 (1), p.161-168
2013
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Nature cancer, 2021-06, Vol.2 (6), p.643
- Zou, Xueqing
- Koh, Gene Ching Chiek
- Nanda, Arjun Scott
- Degasperi, Andrea
- Urgo, Katie
- Roumeliotis, Theodoros I
- Agu, Chukwuma A
- Badja, Cherif
- Momen, Sophie
- Young, Jamie
- Amarante, Tauanne Dias
- Side, Lucy
- Brice, Glen
- Perez-Alonso, Vanesa
- Rueda, Daniel
- Gomez, Celine
- Bushell, Wendy
- Harris, Rebecca
- Choudhary, Jyoti S
- Jiricny, Josef
- Skarnes, William C
- Nik-Zainal, Serena
2021
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Atherosclerosis, 2009-03, Vol.203 (1), p.32-33
2009
Link zum Volltext
Journal of the American College of Cardiology, 2018-08, Vol.72 (6), p.662-680
- Sturm, Amy C.
- Knowles, Joshua W.
- Gidding, Samuel S.
- Ahmad, Zahid S.
- Ahmed, Catherine D.
- Ballantyne, Christie M.
- Baum, Seth J.
- Bourbon, Mafalda
- Carrié, Alain
- Cuchel, Marina
- de Ferranti, Sarah D.
- Defesche, Joep C.
- Freiberger, Tomas
- Hershberger, Ray E.
- Hovingh, G. Kees
- Karayan, Lala
- Kastelein, Johannes Jacob Pieter
- Kindt, Iris
- Lane, Stacey R.
- Leigh, Sarah E.
- Linton, MacRae F.
- Mata, Pedro
- Neal, William A.
- Nordestgaard, Børge G.
- Santos, Raul D.
- Harada-Shiba, Mariko
- Sijbrands, Eric J.
- Stitziel, Nathan O.
- Yamashita, Shizuya
- Wilemon, Katherine A.
- Ledbetter, David H.
- Rader, Daniel J.
2018
Link zum Volltext
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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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
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
Link zum Volltext
Nature (London), 2022-02, Vol.602 (7898), p.623-631
2022
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Scientific reports, 2021-02, Vol.11 (1), p.3962-13, Article 3962
2021
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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
Link zum Volltext
Journal of medical genetics, 2022-08, Vol.59 (8), p.737
2022
Link zum Volltext
Kidney international, 2023-11, Vol.104 (5), p.995-1007
- Claus, Laura R
- Chen, Chuan
- Stallworth, Jennifer
- Turner, Joshua L
- Slaats, Gisela G
- 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
2023
Link zum Volltext
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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Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600
- Pagnamenta, Alistair T
- Kaiyrzhanov, Rauan
- Zou, Yaqun
- Da'as, Sahar I
- Maroofian, Reza
- Donkervoort, Sandra
- Dominik, Natalia
- Lauffer, Marlen
- Ferla, Matteo P
- Orioli, Andrea
- Giess, Adam
- Tucci, Arianna
- Beetz, Christian
- Sedghi, Maryam
- Ansari, Behnaz
- Barresi, Rita
- Basiri, Keivan
- Cortese, Andrea
- Elgar, Greg
- Fernandez-Garcia, Miguel A
- Yip, Janice
- Foley, A Reghan
- Gutowski, Nicholas
- Jungbluth, Heinz
- Lassche, Saskia
- Lavin, Tim
- Marcelis, Carlo
- Marks, Peter
- Marini-Bettolo, Chiara
- Medne, Livija
- Moslemi, Ali-Reza
- Sarkozy, Anna
- Reilly, Mary M
- Muntoni, Francesco
- Millan, Francisca
- Muraresku, Colleen C
- Need, Anna C
- Nemeth, Andrea H
- Neuhaus, Sarah B
- Norwood, Fiona
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- O'Driscoll, Mary
- Rankin, Julia
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- Zolkipli-Cunningham, Zarazuela
- Brusius, Isabell
- Wunderlich, Gilbert
- Karakaya, Mert
- Wirth, Brunhilde
- Fakhro, Khalid A
- Tajsharghi, Homa
- Bönnemann, Carsten G
- Taylor, Jenny C
- Houlden, Henry
2021
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Kidney international, 2023-11, Vol.104 (5), p.975-984
2023
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Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2723-2729
- Zanovello, Matteo
- Ibáñez, Kristina
- Brown, Anna-Leigh
- Sivakumar, Prasanth
- Bombaci, Alessandro
- Santos, Liana
- van Vugt, Joke J F A
- Narzisi, Giuseppe
- Karra, Ramita
- Scholz, Sonja W
- Ding, Jinhui
- Gibbs, J Raphael
- Chiò, Adriano
- Dalgard, Clifton
- Weisburd, Ben
- Hanna, Michael G
- Greensmith, Linda
- Phatnani, Hemali
- Veldink, Jan H
- Traynor, Bryan J
- Polke, James
- Houlden, Henry
- Fratta, Pietro
- Tucci, Arianna
2023
Link zum Volltext
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
- Parra, Riccardo
- Richardson, Ruth
- Roscioli, Tony
- Scala, Marcello
- von Stülpnagel, Celina
- Smedley, Damian
- Pochiero, Francesca
- Ramesh, Venkateswaran
- Capra, Valeria
- Mancardi, Margherita
- Keren, Boris
- Mignot, Cyiril
- Lulli, Matteo
- Parks, Kendall
- Griffin, Helen
- Nigro, Vincenzo
- Hirata, Yuko
- Koichihara, Reiko
- Peterlin, Borut
- Maki, Ryuto
- Nitta, Yohei
- Ambrose, John C.
- Arumugam, Prabhu
- Bevers, Roel
- Bleda, Marta
- 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
- 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
Ophthalmology (Rochester, Minn.), 2023-01, Vol.130 (1), p.68-76
- Yahya, Samar
- Smith, Claire E.L.
- Poulter, James A.
- McKibbin, Martin
- Arno, Gavin
- Ellingford, Jamie
- Kämpjärvi, Kati
- Khan, Muhammad I.
- Cremers, Frans P.M.
- Hardcastle, Alison J.
- Castle, Bruce
- Steel, David H.W.
- Webster, Andrew R.
- Black, Graeme C.
- El-Asrag, Mohammed E.
- Ali, Manir
- Toomes, Carmel
- Inglehearn, Chris F.
- Ingram, Stuart
- Taylor, Rachel
- Manson, Forbes
- Sergouniotis, Panagiotis
- Pontikos, Nikolas
- Cheetham, Michael
- Fiorentino, Alessia
- Downes, Susan
- Yu, Jing
- Halford, Stephanie
- Broadgate, Suzanne
- van Heyningen, Veronica
- 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.
2023
Link zum Volltext
Journal of medical genetics, 2022-10, Vol.59 (10), p.947
- Pagnamenta, Alistair T
- Diaz-Gonzalez, Francisca
- Banos-Pinero, Benito
- Ferla, Matteo P
- Toosi, Mehran B
- Calder, Alistair D
- Karimiani, Ehsan G
- Doosti, Mohammad
- Wainwright, Andrew
- Wordsworth, Paul
- Bailey, Kathryn
- Ejeskär, Katarina
- Lester, Tracy
- Maroofian, Reza
- Heath, Karen E
- Tajsharghi, Homa
- Shears, Deborah
- Taylor, Jenny C
2022
Link zum Volltext
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