Chris F. Inglehearn

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Biallelic Variants in Plexin B2 (PLXNB2) Cause Amelogenesis Imperfecta, Hearing Loss and Intellectual Disability

Claire E. L. Smith,Virginie Laugel-Haushalter, Ummey Hany,Sunayna Best,Rachel L. Taylor,James A. Poulter,Saskia B. Wortmann,Rene G. Feichtinger,Johannes A. Mayr,Suhaila Al Bahlani,Georgios Nikolopoulos, Alice Rigby,Graeme C. Black,Christopher M. Watson,Sahar Mansour,Chris F. Inglehearn,Alan J. Mighell,Agnes Bloch-Zupan

JOURNAL OF MEDICAL GENETICSno. 7 (2024): 689-698

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Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes

U. Hany, C. M. 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,C. F. Inglehearn,A. J. Mighell

JOURNAL OF DENTAL RESEARCHno. 1 (2024): 22-30

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies Through Sequencing of 105 Disease-Associated Genes

Rebekkah J. Hitti-Malin,Daan M. Panneman,Zelia Corradi,Erica G. M. Boonen,Galuh Astuti,Claire-Marie Dhaenens,Heidi Stoehr,Bernhard H. F. Weber,Dror Sharon,Eyal Banin,Marianthi Karali,Sandro Banfi,Tamar Ben-Yosef,Damjan Glavac,G. Jane Farrar,Carmen Ayuso,Petra Liskova,Lubica Dudakova,Marie Vajter,Monika Oldak,Jacek P. Szaflik,Anna Matynia,Michael B. Gorin, Kati Kaempjaervi,Miriam Bauwens,Elfride 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,Raj 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,Huelya Kayserili,Susanne Roosing,Frans P. M. Cremers

BIOMOLECULESno. 3 (2024)

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Glycogen Myophosphorylase Loss Causes Increased Dependence on Glucose in Ipsc-Derived Retinal Pigment Epithelium

Basudha Basu, Magdalena Karwatka, Becky China,Martin McKibbin,Kamron Khan,Chris F. Inglehearn, John E. Ladbury,Colin A. Johnson

The Journal of biological chemistryno. 8 (2024): 107569-107569

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Heterozygous COL17A1 Variants Are a Frequent Cause of Amelogenesis Imperfecta

Ummey Hany,Christopher M. Watson, Lu Liu,Claire E. L. Smith, Asmaa Harfoush,James A. Poulter,Georgios Nikolopoulos,Richard Balmer,Catriona J. Brown,Anesha Patel, Jenny Simmonds,Ruth Charlton,Maria Gabriela Acosta de Camargo,Helen D. Rodd,Hussain Jafri,Agne Antanaviciute, Michelle Moffat,Maisoon Al-Jawad,Chris F. Inglehearn,Alan J. Mighell

Journal of medical geneticsno. 4 (2023): 347-355

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Effective Smmips-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

Benjamin Mc Clinton,Zelia Corradi,Martin McKibbin,Daan M. Panneman,Susanne Roosing,Erica G. M. Boonen,Manir Ali,Christopher M. Watson,David H. Steel,Frans P. M. Cremers,Chris F. Inglehearn,Rebekkah J. Hitti-Malin,Carmel Toomes

GENES（2023）

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Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Daan Panneman,Susanne Roosing,Erica Boonen,Chris Inglehearn,Martin McKibbin,Elfride De Baere,Thomy de Ravel,Sascha Vermeer,Andrea Vincent,Robert Koenekoop,Frans Cremers

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)

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Targeted Nanopore Sequencing Enables Complete Characterisation of Structural Deletions Initially Identified Using Exon-Based Short-Read Sequencing Strategies

Benjamin McClinton,Laura A. Crinnion,Martin McKibbin,Rajarshi Mukherjee,James A. Poulter,Claire E. L. Smith,Manir Ali,Christopher M. Watson,Chris F. Inglehearn,Carmel Toomes

Molecular genetics & genomic medicine（2023）

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Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells

Samar Yahya,Christopher M. Watson,Ian Carr,Martin McKibbin,Laura A. Crinnion,Morag Taylor, Hope Bonin,Tracy Fletcher,Mohammed E. El-Asrag,Manir Ali,Carmel Toomes,Chris F. Inglehearn

Molecular diagnosis & therapyno. 4 (2023): 525-535

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论文共 359 篇作者统计合作学者相似作者