A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service by Eleanor G. Seaby, N. Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria, Sarah Ennis

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Rare dosage abnormalities flanking the SHOX gene by David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn, N. Simon Thomas

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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project by Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord

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The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum by Nisreen Rumman, Mahmoud R. Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace M. Freke, Abdallah Hasaballah, Claire L. Jackson, Mai A. Mohamed, Reda Abu Nema, Mitali P. Patel, Reuben J. Pengelly, Ahmad Qaaqour, Bruna Rubbo, N. Simon Thomas, James Thompson, Woolf T. Walker, Gabrielle Wheway, Hannah M. Mitchison, Jane S. Lucas

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