Chris F Inglehearn (C F Inglehearn)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 18

Top Topics

Optical Coherence Tomography

Age Related Macular Degeneration

Duchenne Muscular Dystrophy

Top Venues

Nature communications

Journal of dental research

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton Jóse Rosas Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature communications 15 (1) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton Jóse Rosas Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature communications 15 (1) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton Jóse Rosas Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature communications 15 (1) (2024)
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton Jóse Rosas Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature communications 15 (1) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Ummey Hany, Christopher Mark Watson, L Liu, G Nikolopoulos, C E L Smith, J A Poulter, C J Brown, A Patel, H D Rodd, R Balmer, A Harfoush, M Al-Jawad, Chris F Inglehearn, A J Mighell
Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Journal of dental research (2023)
Samar Yahya, Christopher Mark Watson, Ian M Carr, Martin McKibbin, Laura A Crinnion, Morag Taylor, Hope Bonin, Tracy Fletcher, Mohammed E El-Asrag, Manir Ali, Carmel Toomes, Chris F Inglehearn
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells. Molecular diagnosis & therapy (2023)
Benjamin McClinton, Laura A Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A Poulter, Claire E L Smith, Manir Ali, Christopher Mark Watson, Chris F Inglehearn, Carmel Toomes
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies. Molecular genetics & genomic medicine (2023)
Iain D Wilkinson, Tariq Mahmood, Sophia Faye Yasmin, Anneka Tomlinson, Jamshid Nazari, Hamid Alhaj, Soumaya Nasser El Din, Joanna Neill, Chhaya Pandit, Shahzad Ashraf, Alastair G Cardno, Steven J Clapcote, Chris F Inglehearn, Peter W Woodruff
In memory of Professor Iain Wilkinson: cognitive and neuroimaging endophenotypes in a consanguineous schizophrenia multiplex family. Psychological medicine (2022)
Georgios Nikolopoulos, Claire E L Smith, James A Poulter, Gina Murillo, Sandra Silva, Teresa Lamb, Ian R Berry, Catriona J Brown, Peter F Day, Francesca Soldani, Suhaila Al-Bahlani, Sarah A Harris, Mary J O'Connell, Chris F Inglehearn, Alan J Mighell
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20. Human mutation 42 (5) (2021)
Alison J Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J McComish, Alice E Davidson, Chris F Inglehearn, Xiaohui Li, Helene Choquet, Mahmoud Habeeb, Sionne E M Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E Rojas Lopez, Anthony P Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T H Van Dooren, Annette J M Geerards, Christoph Walter Haudum, Valeria Lo Faro, Abi Tenen, Mark J Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S Rahi, Ronald M Krauss, Elisabeth Theusch, Jac C Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A Meester-Smoor, Andrea J Richardson, Paul A Mitchell, Kent D Taylor, Ronald B Melles, Anthony J Aldave, Richard A Mills, Ke Cao, Elsie Chan, Mark D Daniell, Jie Jing Wang, Jerome I Rotter, Alex W Hewitt, Stuart Macgregor, Caroline C W Klaver, Wishal D Ramdas, Jamie E Craig, Sudha K Iyengar, David O'Brart, Eric Jorgensen, Paul N Baird, Yaron S Rabinowitz, Kathryn P Burdon, Christopher J Hammond, Stephen J Tuft, Pirro G Hysi
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Communications biology 4 (1) (2021)
Georgios Nikolopoulos, Claire E L Smith, Steven J Brookes, Mohammed E El-Asrag, Catriona J Brown, Anesha Patel, Gina Murillo, Mary J O'Connell, Chris F Inglehearn, Alan J Mighell
New missense variants in RELT causing hypomineralised amelogenesis imperfecta. Clinical genetics 97 (5) (2020)
Claire E L Smith, J A Poulter, S J Brookes, G Murillo, S Silva, C J Brown, A Patel, H Hussain, J Kirkham, Chris F Inglehearn, A J Mighell
Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta. Journal of dental research 98 (6) (2019)
Laura L E Whitehouse, Claire E L Smith, James A Poulter, Catriona J Brown, Anesha Patel, Teresa Lamb, Lucy R Brown, Elizabeth A O'Sullivan, Rowena E Mitchell, Ian R Berry, Ruth Charlton, Chris F Inglehearn, Alan J Mighell
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome. Oral diseases 25 (1) (2018)