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11
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Best, Sunayna ; Yu, Jing ; Lord, Jenny ; Roche, Matthew ; Watson, Christopher Mark ; Bevers, Roel P J ; Stuckey, Alex ; Madhusudhan, Savita ; Jewell, Rosalyn ; Sisodiya, Sanjay M ; Lin, Siying ; Turner, Stephen ; Robinson, Hannah ; Leslie, Joseph S ; Baple, Emma ; Toomes, Carmel ; Inglehearn, Chris ; Wheway, Gabrielle ; Johnson, Colin A ; Ambrose, JC ; Arumugam, P ; Bevers, R ; Bleda, M ; Boardman-Pretty, F ; Boustred, C R ; Brittain, H ; Brown, MA ; Caulfield, MJ ; Chan, GC ; Fowler, T ; Giess, A ; Hamblin, A ; Henderson, S ; Hubbard, TJP ; Jackson, R ; Jones, LJ ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Leigh, SEA ; Leong, IUS ; Lopez, FJ ; Maleady-Crowe, F ; McEntagart, M ; Minneci, F ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, AC ; O‘Donovan, P ; Odhams, CA ; Patch, C ; Perez-Gil, D ; Pereira, MB ; Pullinger, J ; Rahim, T ; Rendon, A ; Rogers, T ; Savage, K ; Sawant, K ; Scott, RH ; Siddiq, A ; Sieghart, A ; Smith, SC ; Sosinsky, A ; Stuckey, A ; Tanguy, M ; Taylor Tavares, AL ; Thomas, ERA ; Thompson, SR ; Tucci, A ; Welland, MJ ; Williams, E ; Witkowska, K ; Wood, SM

Journal of medical genetics, 2022-12, Vol.59 (12), p.1151-1164 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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12
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

Moore, A Rachel ; Yu, Jing ; Pei, Yang ; Cheng, Emily W Y ; Taylor Tavares, Ana Lisa ; Walker, Woolf T ; Thomas, N Simon ; Kamath, Arveen ; Ibitoye, Rita ; Josifova, Dragana ; Wilsdon, Anna ; Ross, Alison ; Calder, Alistair D ; Offiah, Amaka C ; Wilkie, Andrew O M ; Taylor, Jenny C ; Pagnamenta, Alistair T

Journal of medical genetics, 2023-12, Vol.60 (12), p.1235-1244 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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13
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

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

Nature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595 [Periódico revisado por pares]

England: Nature Publishing Group

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14
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian ; Maroofian, Reza ; Espana-Bonilla, Paula ; Lee, Chul-Hwan ; Zhang, Shuo ; Padilla, Natàlia ; Fueyo, Raquel ; Waxman, Elisa A ; Lei, Sunyimeng ; Otrimski, Garrett ; Li, Dong ; Sheppard, Sarah E ; Mark, Paul ; Harr, Margaret H ; Hakonarson, Hakon ; Rodan, Lance ; Jackson, Adam ; Vasudevan, Pradeep ; Powel, Corrina ; Mohammed, Shehla ; Maddirevula, Sateesh ; Alzaidan, Hamad ; Faqeih, Eissa A ; Efthymiou, Stephanie ; Turchetti, Valentina ; Rahman, Fatima ; Maqbool, Shazia ; Salpietro, Vincenzo ; Ibrahim, Shahnaz H ; di Rosa, Gabriella ; Houlden, Henry ; Alharbi, Maha Nasser ; Al-Sannaa, Nouriya Abbas ; Bauer, Peter ; Zifarelli, Giovanni ; Estaras, Conchi ; Hurst, Anna C E ; Thompson, Michelle L ; Chassevent, Anna ; Smith-Hicks, Constance L ; de la Cruz, Xavier ; Holtz, Alexander M ; Elloumi, Houda Zghal ; Hajianpour, M J ; Rieubland, Claudine ; Braun, Dominique ; Banka, Siddharth ; French, Deborah L ; Heller, Elizabeth A ; Saade, Murielle ; Song, Hongjun ; Ming, Guo-Li ; Alkuraya, Fowzan S ; Agrawal, Pankaj B ; Reinberg, Danny ; Bhoj, Elizabeth J ; Martínez-Balbás, Marian A ; Akizu, Naiara

Nature communications, 2023-07, Vol.14 (1), p.4109-4109, Article 4109 [Periódico revisado por pares]

England: Nature Publishing Group

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15
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

Lenassi, Eva ; Carvalho, Ana ; Thormann, Anja ; Abrahams, Liam ; Arno, Gavin ; Fletcher, Tracy ; Hardcastle, Claire ; Lopez, Javier ; Hunt, Sarah E ; Short, Patrick ; Sergouniotis, Panagiotis I ; Michaelides, Michel ; Webster, Andrew ; Cunningham, Fiona ; Ramsden, Simon C ; Kasperaviciute, Dalia ; Fitzpatrick, David R ; Black, Graeme C ; Ellingford, Jamie M ; 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

Journal of medical genetics, 2023-08, Vol.60 (8), p.810-818 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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16
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project
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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Wheway, Gabrielle ; Mitchison, Hannah M

Frontiers in genetics, 2019-03, Vol.10, p.127 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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17
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Parry, David A ; Martin, Carol-Anne ; Greene, Philip ; Marsh, Joseph A ; Blyth, Moira ; Cox, Helen ; Donnelly, Deirdre ; Greenhalgh, Lynn ; Greville-Heygate, Stephanie ; Harrison, Victoria ; Lachlan, Katherine ; McKenna, Caoimhe ; Quigley, Alan J ; Rea, Gillian ; Robertson, Lisa ; Suri, Mohnish ; Jackson, Andrew P

Genetics in medicine, 2021-02, Vol.23 (2), p.408-414 [Periódico revisado por pares]

United States: Elsevier Limited

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18
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Macken, William L ; Falabella, Micol ; McKittrick, Caroline ; Pizzamiglio, Chiara ; Ellmers, Rebecca ; Eggleton, Kelly ; Woodward, Cathy E ; Patel, Yogen ; Labrum, Robyn ; Phadke, Rahul ; Reilly, Mary M ; DeVile, Catherine ; Sarkozy, Anna ; Footitt, Emma ; Davison, James ; Rahman, Shamima ; Houlden, Henry ; Bugiardini, Enrico ; Quinlivan, Rosaline ; Hanna, Michael G ; Vandrovcova, Jana ; Pitceathly, Robert D S

Nature communications, 2022-11, Vol.13 (1), p.6324-6324, Article 6324 [Periódico revisado por pares]

England: Nature Publishing Group

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19
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Seaby, Eleanor G. ; Thomas, N. Simon ; Webb, Amy ; Brittain, Helen ; Taylor Tavares, Ana Lisa ; Baralle, Diana ; Rehm, Heidi L. ; O’Donnell-Luria, Anne ; Ennis, Sarah

Human genetics, 2023-03, Vol.142 (3), p.351-362 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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20
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

Tooze, Rebecca S ; Calpena, Eduardo ; Twigg, Stephen R F ; D'Arco, Felice ; Wakeling, Emma L ; Wilkie, Andrew O M

Journal of medical genetics, 2023-07, Vol.60 (7), p.712-716 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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