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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Thomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G. Share Save
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease Rey, Alfredo Duenas; Valero, Marta del Pozo; Bouckaert, Manon; Wood, Katherine A.; van den Broeck, Filip; Varela, Malena Daich; Thomas, Huw B.; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Bauwens, Miriam; Lenaerts, Hanne; Mahieu, Quinten; Josifova, Dragana; Rivolta, Carlo; O'Keefe, Raymond T.; Ellingford, Jamie; Webster, Andrew R.; Arno, Gavin; Ayuso, Carmen; De Zaeytijd, Julie; Leroy, Bart P.; De Baere, Elfride; Coppieters, Frauke Share Save
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 Smith, Thomas B.; Rea, Alessandro; Thomas, Huw B.; Thompson, Kyle; Olahova, Monika; Maroofian, Reza; Zamani, Mina; He, Langping; Sadeghian, Saeid; Galehdari, Hamid; Lotan, Nava Shaul; Gilboa, Tal; Herman, Kristin C.; McCorvie, Thomas J.; Yue, Wyatt W.; Houlden, Henry; Taylor, Robert W.; Newman, William G.; O'Keefe, Raymond T. Share Save
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Bi-allelic FRA10AC1 variants in a multisystem human syndrome Banka, Siddharth; Shalev, Stavit; Park, Soo Mi; Wood, Katherine A.; Thomas, Huw B.; Wright, Helen L.; Alyahya, Mohammed; Bankier, Sean; Alimi, Ola; Chervinsky, Elena; Zeef, Leo A. H.; O'Keefe, Raymond T. Share Save
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations Jayadev, Ranjay; Morais, Mychel R. P. T.; Ellingford, Jamie M.; Srinivasan, Sandhya; Naylor, Richard W.; Lawless, Craig; Li, Anna S.; Ingham, Jack F.; Hastie, Eric; Chi, Qiuyi; Fresquet, Maryline; Koudis, Nikki-Maria; Thomas, Huw B.; O'Keefe, Raymond T.; Williams, Emily; Adamson, Antony; Stuart, Helen M.; Banka, Siddharth; Smedley, Damian; Sherwood, David R.; Lennon, Rachel Share Save
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MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease Rowlands, Charlie F.; Taylor, Algy; Rice, Gillian; Whiffin, Nicola; Hall, Hildegard Nikki; Newman, William G.; Black, Graeme C. M.; O'Keefe, Raymond T.; Hubbard, Simon; Douglas, Andrew G. L.; Baralle, Diana; Briggs, Tracy A.; Ellingford, Jamie M. Share Save
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report Smedley, Damian; Smith, Katherine R.; Martin, Antonio; Thomas, Ellen A.; McDonagh, Ellen M.; Cipriani, Valentina; Ellingford, Jamie M.; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J.; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R.; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmstrom, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R. Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G.; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Graf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G.; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L. T.; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E.; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Wright, Caroline F.; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A.; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R.; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C.; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J.; Humphray, Sean J.; Robinson, Peter N.; Haendel, Melissa; Simpson, Michael A.; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B.; O'Keefe, Raymond T.; Michaelides, Michel; Moore, Anthony T.; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C.; Straub, Volker; Gorman, Grainne S.; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M.; Yu-Wai-Man, Patrick; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R.; Polke, James; Wood, Nicholas W.; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Roy, Noemi B. A.; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O.; Seaby, Eleanor G.; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I. Karen; Mumford, Andrew D.; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R.; Brennan, Paul; Burn, John; Chinnery, Patrick F.; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A.; Taylor, Jenny C.; Webster, Andrew R.; Wilkie, Andrew O. M.; Ouwehand, Willem H.; Raymond, F. Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H.; Fowler, Tom; Rendon, Augusto; Caulfield, Mark Share Save
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodriguez-Palmero, Agusti; Schluter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; McMillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O'Keefe, Raymond T.; Newman, William G. Share Save
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency Demain, Leigh A. M.; Boetje, Eline; Edgerley, Jonathan J.; Miles, Emma; Fitzgerald, Cheryl T.; Busby, Gail; Beaman, Glenda M.; O'Sullivan, James; O'Keefe, Raymond T.; Newman, William G. Share Save
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder Faridi, Rabia; Rea, Alessandro; Fenollar-Ferrer, Cristina; O'Keefe, Raymond T.; Gu, Shoujun; Munir, Zunaira; Khan, Asma Ali; Riazuddin, Sheikh; Hoa, Michael; Naz, Sadaf; Newman, William G.; Friedman, Thomas B. Share Save
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A KRAS-responsive long non-coding RNA controls microRNA processing Shi, Lei; Magee, Peter; Fassan, Matteo; Sahoo, Sudhakar; Leong, Hui Sun; Lee, Dave; Sellers, Robert; Brulle-Soumare, Laura; Cairo, Stefano; Monteverde, Tiziana; Volinia, Stefano; Smith, Duncan D.; Di Leva, Gianpiero; Galuppini, Francesca; Paliouras, Athanasios R.; Zeng, Kang; O'Keefe, Raymond; Garofalo, Michela Share Save
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EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type Thomas, Huw B.; Wood, Katherine A.; Buczek, Weronika A.; Gordon, Christopher T.; Pingault, Veronique; Attie-Bitach, Tania; Hentges, Kathryn E.; Varghese, Vinod C.; Amiel, Jeanne; Newman, William G.; O'Keefe, Raymond T. Share Save
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