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Nature (London), 2020-04, Vol.580 (7802), p.269-273
- Pleguezuelos-Manzano, Cayetano
- Puschhof, Jens
- Rosendahl Huber, Axel
- van Hoeck, Arne
- Wood, Henry M
- Nomburg, Jason
- Gurjao, Carino
- Manders, Freek
- Dalmasso, Guillaume
- Stege, Paul B
- Paganelli, Fernanda L
- Geurts, Maarten H
- Beumer, Joep
- Mizutani, Tomohiro
- Miao, Yi
- van der Linden, Reinier
- van der Elst, Stefan
- Garcia, K Christopher
- Top, Janetta
- Willems, Rob J L
- Giannakis, Marios
- Bonnet, Richard
- Quirke, Phil
- Meyerson, Matthew
- Cuppen, Edwin
- van Boxtel, Ruben
- Clevers, Hans
2020
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Scientific reports, 2021-10, Vol.11 (1), p.20607-20607, Article 20607
- Rowlands, Charlie
- Thomas, Huw B
- Lord, Jenny
- Wai, Htoo A
- Arno, Gavin
- Beaman, Glenda
- Sergouniotis, Panagiotis
- Gomes-Silva, Beatriz
- Campbell, Christopher
- Gossan, Nicole
- Hardcastle, Claire
- Webb, Kevin
- O'Callaghan, Christopher
- Hirst, Robert A
- Ramsden, Simon
- Jones, Elizabeth
- Clayton-Smith, Jill
- Webster, Andrew R
- Douglas, Andrew G L
- O'Keefe, Raymond T
- Newman, William G
- Baralle, Diana
- Black, Graeme C M
- Ellingford, Jamie M
2021
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Nature communications, 2020-04, Vol.11 (1), p.1740-1740, Article 1740
2020
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The European respiratory journal, 2022-11, Vol.60 (5), p.2200176
- Shoemark, Amelia
- Griffin, Helen
- Wheway, Gabrielle
- Hogg, Claire
- Lucas, Jane S
- Camps, Carme
- Taylor, Jenny
- Carroll, Mary
- Loebinger, Michael R
- Chalmers, James D
- Morris-Rosendahl, Deborah
- Mitchison, Hannah M
- De Soyza, Anthony
- Brown, D
- Ambrose, J C
- Arumugam, P
- Bevers, R
- Bleda, M
- Boardman-Pretty, F
- Boustred, C R
- Brittain, H
- Caulfield, M J
- Chan, G C
- Fowler, T
- Giess, A
- Hamblin, A
- Henderson, S
- Hubbard, T J P
- Jackson, R
- Jones, L J
- Kasperaviciute, D
- Kayikci, M
- Kousathanas, A
- Lahnstein, L
- Leigh, S E A
- Leong, I U S
- Lopez, F J
- Maleady-Crowe, F
- McEntagart, M
- Minneci, F
- Moutsianas, L
- Mueller, M
- Murugaesu, N
- Need, A C
- O'Donovan, P
- Odhams, C A
- Patch, C
- Perez-Gil, D
- Pereira, M B
- Pullinger, J
- Rahim, T
- Rendon, A
- Rogers, T
- Savage, K
- Sawant, K
- Scott, R H
- Siddiq, A
- Sieghart, A
- Smith, S C
- Sosinsky, A
- Stuckey, A
- Tanguy, M
- Taylor Tavares, A L
- Thomas, E R A
- Thompson, S R
- Tucci, A
- Welland, M J
- Williams, E
- Witkowska, K
- Wood, S M
2022
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Genetics in medicine, 2020-12, Vol.22 (12), p.2041-2051
- Vig, Anjali
- Poulter, James A
- Ottaviani, Daniele
- Tavares, Erika
- Toropova, Katerina
- Tracewska, Anna Maria
- Mollica, Antonio
- Kang, Jasmine
- Kehelwathugoda, Oshini
- Paton, Tara
- Maynes, Jason T
- Wheway, Gabrielle
- Arno, Gavin
- Khan, Kamron N
- McKibbin, Martin
- Toomes, Carmel
- Ali, Manir
- Di Scipio, Matteo
- Li, Shuning
- Ellingford, Jamie
- Black, Graeme
- Webster, Andrew
- Rydzanicz, Małgorzata
- Stawiński, Piotr
- Płoski, Rafał
- Vincent, Ajoy
- Cheetham, Michael E
- Inglehearn, Chris F
- Roberts, Anthony
- Heon, Elise
2020
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British journal of cancer, 2022-07, Vol.127 (1), p.137-144
2022
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Genetics in medicine, 2021-02, Vol.23 (2), p.408-414
2021
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Nature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595
- Chrystal, Paul W
- Lambacher, Nils J
- Doucette, Lance P
- Bellingham, James
- Schiff, Elena R
- Noel, Nicole C L
- Li, Chunmei
- Tsiropoulou, Sofia
- Casey, Geoffrey A
- Zhai, Yi
- Nadolski, Nathan J
- Majumder, Mohammed H
- Tagoe, Julia
- D'Esposito, Fabiana
- Cordeiro, Maria Francesca
- Downes, Susan
- Clayton-Smith, Jill
- Ellingford, Jamie
- Mahroo, Omar A
- Hocking, Jennifer C
- Cheetham, Michael E
- Webster, Andrew R
- Jansen, Gert
- Blacque, Oliver E
- Allison, W Ted
- Au, Ping Yee Billie
- MacDonald, Ian M
- Arno, Gavin
- Leroux, Michel R
2022
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Scientific reports, 2022-02, Vol.12 (1), p.2722-13, Article 2722
2022
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Human genetics, 2023-03, Vol.142 (3), p.351-362
2023
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European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.265-270
2022
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European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1439-1443
2022
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Scientific reports, 2023-06, Vol.13 (1), p.9369-12, Article 9369
2023
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Genetics in medicine, 2021-10, Vol.23 (10), p.1933-1943
- Lin, Sheng-Jia
- Barbalho, Patricia G.
- Kaiyrzhanov, Rauan
- Maroofian, Reza
- Petree, Cassidy
- Severino, Mariasavina
- Stanley, Valentina
- Varshney, Pratishtha
- Bahena, Paulina
- Alzahrani, Fatema
- Alhashem, Amal
- Pagnamenta, Alistair T.
- Aubertin, Gudrun
- Estrada-Veras, Juvianee I.
- Hernández, Héctor Adrián Díaz
- Mazaheri, Neda
- Oza, Andrea
- Thies, Jenny
- Renaud, Deborah L.
- Dugad, Sanmati
- McEvoy, Jennifer
- Sultan, Tipu
- Pais, Lynn S.
- Tabarki, Brahim
- Villalobos-Ramirez, Daniel
- Rad, Aboulfazl
- Ambrose, J.C.
- Arumugam, P.
- Bleda, M.
- Boardman-Pretty, F.
- Boustred, C.R.
- Brittain, H.
- Caulfield, M.J.
- Chan, G.C.
- Fowler, T.
- Giess, A.
- Hamblin, A.
- Henderson, S.
- Hubbard, T.J.P.
- Jackson, R.
- Jones, L.J.
- Kasperaviciute, D.
- Kayikci, M.
- Kousathanas, A.
- Lahnstein, L.
- Leigh, S.E.A.
- Leong, I.U.S.
- Lopez, F.J.
- Maleady-Crowe, F.
- Moutsianas, L.
- Mueller, M.
- Murugaesu, N.
- Need, A.C.
- O‘Donovan, P.
- Odhams, C.A.
- Patch, C.
- Perez-Gil, D.
- Pereira, M.B.
- Pullinger, J.
- Rendon, A.
- Rogers, T.
- Savage, K.
- Sawant, K.
- Scott, R.H.
- Siddiq, A.
- Sieghart, A.
- Smith, S.C.
- Sosinsky, A.
- Stuckey, A.
- Tanguy, M.
- Thomas, E.R.A.
- Thompson, S.R.
- Tucci, A.
- Walsh, E.
- Welland, M.J.
- Williams, E.
- Witkowska, K.
- Wood, S.M.
- Galehdari, Hamid
- Ashrafzadeh, Farah
- Sahebzamani, Afsaneh
- Saeidi, Kolsoum
- Torti, Erin
- Elloumi, Houda Z.
- Mora, Sara
- Palculict, Timothy B.
- Yang, Hui
- Ben Fowler
- Joshi, Manali
- Behra, Martine
- Burgess, Shawn M.
- Nath, Swapan K.
- Kenna, Margaret
- Houlden, Henry
- Karimiani, Ehsan Ghayoor
- Zaki, Maha S.
- Haaf, Thomas
- Alkuraya, Fowzan S.
- Gleeson, Joseph G.
- Varshney, Gaurav K.
2021
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Genetics in medicine, 2021-11, Vol.23 (11), p.2138-2149
- Iqbal, Maria
- Maroofian, Reza
- Çavdarlı, Büşranur
- Riccardi, Florence
- Field, Michael
- Banka, Siddharth
- Bubshait, Dalal K
- Li, Yun
- Hertecant, Jozef
- Baig, Shahid Mahmood
- Dyment, David
- Efthymiou, Stephanie
- Abdullah, Uzma
- Makhdoom, Ehtisham Ul Haq
- Ali, Zafar
- Scherf de Almeida, Tobias
- Molinari, Florence
- Mignon-Ravix, Cécile
- Chabrol, Brigitte
- Antony, Jayne
- Ades, Lesley
- Pagnamenta, Alistair T
- Jackson, Adam
- Douzgou, Sofia
- Beetz, Christian
- Karageorgou, Vasiliki
- Vona, Barbara
- Rad, Aboulfazl
- Baig, Jamshaid Mahmood
- Sultan, Tipu
- Alvi, Javeria Raza
- Maqbool, Shazia
- Rahman, Fatima
- Toosi, Mehran Beiraghi
- Ashrafzadeh, Farah
- Imannezhad, Shima
- Karimiani, Ehsan Ghayoor
- Sarwar, Yasra
- Khan, Sheraz
- Jameel, Muhammad
- Noegel, Angelika A
- Budde, Birgit
- Altmüller, Janine
- Motameny, Susanne
- Höhne, Wolfgang
- Houlden, Henry
- Nürnberg, Peter
- Wollnik, Bernd
- Villard, Laurent
- Alkuraya, Fowzan Sami
- Osmond, Matthew
- Hussain, Muhammad Sajid
- Yigit, Gökhan
2021
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Genome medicine, 2023-07, Vol.15 (1), p.47-18, Article 47
2023
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Scientific reports, 2022-07, Vol.12 (1), p.11257-11257, Article 11257
2022
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Annals of oncology, 2018-09, Vol.29, p.vi7-vi7
2018
Link zum Volltext
BMC nephrology, 2023-08, Vol.24 (1), p.1-256, Article 256
- Hayward, S
- Norton, J
- Bownass, L
- Platt, C
- Ambrose, J. C
- Arumugam, P
- Bevers, R
- Bleda, M
- Boardman-Pretty, F
- Boustred, C. R
- Brittain, H
- Brown, M. A
- Caulfield, M. J
- Chan, G. C
- Giess, A
- Griffin, J. N
- Hamblin, A
- Henderson, S
- Hubbard, T. J. P
- Jackson, R
- Jones, L. J
- Kasperaviciute, D
- Kayikci, M
- Kousathanas, A
- Lahnstein, L
- Lakey, A
- Leigh, S. E. A
- Leong, I. U. S
- Lopez, F. J
- Maleady-Crowe, F
- McEntagart, M
- Minneci, F
- Mitchell, J
- Moutsianas, L
- Mueller, M
- Murugaesu, N
- Need, A. C
- O'Donovan, P
- Odhams, C. A
- Patch, C
- Perez-Gil, D
- Pereira, M. B
- Pullinger, J
- Rahim, T
- Rendon, A
- Rogers, T
- Savage, K
- Sawant, K
- Scott, R. H
- Siddiq, A
- Sieghart, A
- Smith, S. C
- Sosinsky, A
- Stuckey, A
- Tanguy, M
- Taylor Tavares, A. L
- Thomas, E. R. A
- Thompson, S. R
- Tucci, A
- Welland, M. J
- Williams, E
- Witkowska, K
- Wood, S. M
- Zarowiecki, M
2023
Link zum Volltext
European journal of cancer (1990), 2014-07, Vol.50, p.S88-S88
2014
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International journal of gynecological cancer, 2008-01, Vol.18 (1), p.43-50
2008
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BMC research notes, 2021-10, Vol.14 (1), p.385-385, Article 385
2021
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Npj genomic medicine, 2022-03, Vol.7 (1), p.18-18, Article 18
- Lesurf, Robert
- Said, Abdelrahman
- Akinrinade, Oyediran
- Breckpot, Jeroen
- Delfosse, Kathleen
- Liu, Ting
- Yao, Roderick
- Persad, Gabrielle
- McKenna, Fintan
- Noche, Ramil R
- Oliveros, Winona
- Mattioli, Kaia
- Shah, Shreya
- Miron, Anastasia
- Yang, Qian
- Meng, Guoliang
- Yue, Michelle Chan Seng
- Sung, Wilson W L
- Thiruvahindrapuram, Bhooma
- Lougheed, Jane
- Oechslin, Erwin
- Mondal, Tapas
- Bergin, Lynn
- Smythe, John
- Jayappa, Shashank
- Rao, Vinay J
- Shenthar, Jayaprakash
- Dhandapany, Perundurai S
- Semsarian, Christopher
- Weintraub, Robert G
- Bagnall, Richard D
- Ingles, Jodie
- Melé, Marta
- Maass, Philipp G
- Ellis, James
- Scherer, Stephen W
- Mital, Seema
2022
Link zum Volltext
Science advances, 2023-04, Vol.9 (17), p.eade2675-eade2675
- Choi, Dong-Joo
- Armstrong, Georgina
- Lozzi, Brittney
- Vijayaraghavan, Prashanth
- Plon, Sharon E
- Wong, Terence C
- Boerwinkle, Eric
- Muzny, Donna M
- Chen, Hsiao-Chi
- Gibbs, Richard A
- Ostrom, Quinn T
- Melin, Beatrice
- Deneen, Benjamin
- Bondy, Melissa L
- Bainbridge, Matthew N
- Amos, Christopher I
- Barnholtz-Sloan, Jill S
- Bernstein, Jonine L
- Claus, Elizabeth B
- Houlston, Richard S
- Il'yasova, Dora
- Jenkins, Robert B
- Johansen, Christoffer
- Lachance, Daniel
- Lai, Rose
- Melin, Beatrice S
- Merrell, Ryan T
- Olson, Sara H
- Sadetzki, Siegal
- Schildkraut, Joellen
- Shete, Sanjay
- Ambrose, J C
- Arumugam, P
- Bevers, R
- Bleda, M
- Boardman-Pretty, F
- Boustred, C R
- Brittain, H
- Brown, M A
- Caulfield, M J
- Chan, G C
- Giess, A
- Griffin, J N
- Hamblin, A
- Henderson, S
- Hubbard, T J P
- Jackson, R
- Jones, L J
- Kasperaviciute, D
- Kayikci, M
- Kousathanas, A
- Lahnstein, L
- Lakey, A
- Leigh, S E A
- Leong, I U S
- Lopez, F J
- Maleady-Crowe, F
- McEntagart, M
- Minneci, F
- Mitchell, J
- Moutsianas, L
- Mueller, M
- Murugaesu, N
- Need, A C
- O'Donovan, P
- Odhams, C A
- Patch, C
- Perez-Gil, D
- Pereira, M B
- Pullinger, J
- Rahim, T
- Rendon, A
- Rogers, T
- Savage, K
- Sawant, K
- Scott, R H
- Siddiq, A
- Sieghart, A
- Smith, S C
- Sosinsky, A
- Stuckey, A
- Tanguy, M
- Taylor Tavares, A L
- Thomas, E R A
- Thompson, S R
- Tucci, A
- Welland, M J
- Williams, E
- Witkowska, K
- Wood, S M
- Zarowiecki, M
2023
Link zum Volltext
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
- Jurkute, Neringa
- Cancellieri, Francesca
- Pohl, Lisa
- Li, Catherina H. Z.
- Heaton, Robert A.
- Reurink, Janine
- Bellingham, James
- Quinodoz, Mathieu
- Yioti, Georgia
- Stefaniotou, Maria
- Weener, Marianna
- Zuleger, Theresia
- Haack, Tobias B.
- Stingl, Katarina
- Ambrose, J. C.
- Arumugam, P.
- Bevers, R.
- Bleda, M.
- Boardman-Pretty, F.
- Boustred, C. R.
- Brittain, H.
- Brown, M. A.
- Caulfield, M. J.
- Chan, G. C.
- Giess, A.
- Griffin, J. N.
- Hamblin, A.
- Henderson, S.
- Hubbard, T. J. P.
- Jackson, R.
- Jones, L. J.
- Kasperaviciute, D.
- Kayikci, M.
- Kousathanas, A.
- Lahnstein, L.
- Lakey, A.
- Leigh, S. E. A.
- Leong, I. U. S.
- Lopez, F. J.
- Maleady-Crowe, F.
- McEntagart, M.
- Minneci, F.
- Mitchell, J.
- Moutsianas, L.
- Mueller, M.
- Murugaesu, N.
- Need, A. C.
- O‘Donovan, P.
- Odhams, C. A.
- Patch, C.
- Perez-Gil, D.
- Pereira, M. B.
- Pullinger, J.
- Rahim, T.
- Rendon, A.
- Rogers, T.
- Savage, K.
- Sawant, K.
- Scott, R. H.
- Siddiq, A.
- Sieghart, A.
- Smith, S. C.
- Sosinsky, A.
- Stuckey, A.
- Tanguy, M.
- Taylor Tavares, A. L.
- Thomas, E. R. A.
- Thompson, S. R.
- Tucci, A.
- Welland, M. J.
- Williams, E.
- Witkowska, K.
- Wood, S. M.
- Zarowiecki, M.
- Hoyng, Carel B.
- Mahroo, Omar A.
- Hargreaves, Iain
- Raymond, F. Lucy
- Michaelides, Michel
- Rivolta, Carlo
- Kohl, Susanne
- Roosing, Susanne
- Webster, Andrew R.
- Arno, Gavin
2022
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