Functional assessment of IDUA variants of uncertain significance identified by newborn screening

Authors: Seok-Ho Yu, Francyne Kubaski, Gavin Arno, Whitney Phinney, Tim C. Wood, Heather Flanagan-Steet, Laura M. Pollard, Richard Steet

Source: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-10 (2024)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/6a3cee9437024f4f815c019acecf60ea

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Authors: Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)

Subject Terms: 5’untranslated region (5’UTR), Upstream open reading frame (uORF), Non-coding variation, Whole genome sequencing (WGS), Whole exome sequencing (WES), In silico prioritization, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff

Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing

Authors: Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno

Source: Cells, Vol 13, Iss 15, p 1261 (2024)

Subject Terms: USH2A, inherited retinal disease, long-read sequencing, Oxford nanopore sequencing, nasal epithelial cells, deep intronic variant, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/15/1261; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/9f8300908b4346948f247decb549375c

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Authors: Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela

Source: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/a4196dab4d534e369ef825091e1bfe14

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

Authors: Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux

Source: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Authors: Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno

Source: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

Authors: Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman

Source: BMJ Open, Vol 13, Iss 3 (2023)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://bmjopen.bmj.com/content/13/3/e071043.full; https://doaj.org/toc/2044-6055

Access URL: https://doaj.org/article/5945d6aef20f41bfa056c55a51aabb6a

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Authors: Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/cff014b62747418fa2af4029a4e249c3

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Authors: Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska

Source: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/e208f44c488745faa67e41d6e10b7aa1

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Authors: Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin

Source: Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 412-427 (2020)

Subject Terms: ABCA4, antisense oligonucleotides, intronic mutations, splicing, Stargardt disease, iPSC, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253120301682; https://doaj.org/toc/2162-2531

Access URL: https://doaj.org/article/fef9411ebfc84afcbba7915f60706bd7

Panel‐based genetic testing for inherited retinal disease screening 176 genes

Authors: Leo H. N. Sheck, Simona D. Esposti, Omar A. Mahroo, Gavin Arno, Nikolas Pontikos, Genevieve Wright, Andrew R. Webster, Kamron N. Khan, Michel Michaelides

Source: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/d9a2c90ab2db40a18d03c084aae7a866

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

Authors: Hariharan Raju, James S. Ware, Jonathan R. Skinner, Paula L. Hedley, Gavin Arno, Donald R. Love, Christian van der Werf, Jacob Tfelt-Hansen, Bo Gregers Winkel, Marta C. Cohen, Xinzhong Li, Shibu John, Sanjay Sharma, Steve Jeffery, Arthur A. M. Wilde, Michael Christiansen, Mary N. Sheppard, Elijah R. Behr

Source: BMC Cardiovascular Disorders, Vol 19, Iss 1, Pp 1-10 (2019)

Subject Terms: Molecular autopsy, Sudden arrhythmic death syndrome, Sudden unexplained death, Inherited cardiac conditions, Next generation sequencing, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12872-019-1154-8; https://doaj.org/toc/1471-2261

Access URL: https://doaj.org/article/dcacc9ba179d4d699a6d0ada9f7f32ac

Isolated rod dysfunction associated with a novel genotype of CNGB1

Authors: Rola Ba-Abbad, Graham E. Holder, Anthony G. Robson, Magella M. Neveu, Naushin Waseem, Gavin Arno, Andrew R. Webster

Source: American Journal of Ophthalmology Case Reports, Vol 14, Iss , Pp 83-86 (2019)

Subject Terms: Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993618303232; https://doaj.org/toc/2451-9936

Access URL: https://doaj.org/article/5f6c263b7d5a4a3ea91eb01636e85545

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Authors: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: CEP78, inherited retinal disease, cone-rod dystrophy with hearing loss, long-read sequencing, structural variants, single-cell gene expression analysis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.664317/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3

Practical guide to genetic screening for inherited eye diseases

Authors: Cécile Méjécase, Samantha Malka, Zeyu Guan, Amy Slater, Gavin Arno, Mariya Moosajee

Source: Therapeutic Advances in Ophthalmology, Vol 12 (2020)

Subject Terms: Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/2515-8414

Access URL: https://doaj.org/article/8a8cbb9964d7413689dd513b56b26662

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Authors: Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss

Source: Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)

Subject Terms: Genome sequencing, Next-generation sequencing, Complex structural variant, Nanopore, ARID1B, HNRNPU, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-018-0606-6; https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/e563cd1c639d49d89247155d92c3c084

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Authors: Valentina Cipriani, Raquel S. Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R. Webster, Anthony T. Moore

Source: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/2d372407022b447ebe6a08634c10139b

Phenogenon: Gene to phenotype associations for rare genetic diseases.

Authors: Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

Source: PLoS ONE, Vol 15, Iss 4, p e0230587 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/1983f04785234a82b57df50babe8728a

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Authors: Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik

Source: PLoS Genetics, Vol 14, Iss 8, p e1007504 (2018)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC6133373?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/baf42b0095e24ebeabdac8b3ae0ecd02

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