Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis von Gast, Christine, Pengelly, Reuben J, Lyon, Matthew, Bunyan, David J, Seaby, Eleanor G, Graham, Nikki, Venkat-Raman, Gopalakrishnan, Ennis, Sarah

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A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease von Seaby, Eleanor G., Turner, Steven, Bunyan, David J., Seyed‐Rezai, Fariba, Essex, Jonathan, Gilbert, Rodney D., Ennis, Sarah

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Predicting the impact of rare variants on RNA splicing in CAGI6 von Lord, Jenny, Oquendo, Carolina Jaramillo, Wai, Htoo A, Douglas, Andrew G L, Bunyan, David J, Wang, Yaqiong, Hu, Zhiqiang, Zeng, Zishuo, Danis, Daniel, Katsonis, Panagiotis, Williams, Amanda, Lichtarge, Olivier, Chang, Yuchen, Bagnall, Richard D, Mount, Stephen M, Matthiasardottir, Brynja, Lin, Chiaofeng, Hansen, Thomas van Overeem, Leman, Raphael, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie, Bakolitsa, Constantina, Peng, Yisu, Kamandula, Akash, Radivojac, Predrag, Baralle, Diana

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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease von Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G, Pengelly, Reuben J, Gale, Daniel P, Connor, Thomas M, Bunyan, David J, Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G

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Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility von Bunyan, David J, Saran, Mili, Hobbs, James I, Anderson, David J, J. Duncan-Flavell, Philippa, Howarth, Rachel J, Callaway, Jonathan L.A, MacPherson, James N

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Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach von Jaramillo Oquendo, Carolina, Wai, Htoo A, Rich, Wil I, Bunyan, David J, Thomas, N Simon, Hunt, David, Lord, Jenny, Douglas, Andrew G L, Baralle, Diana

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Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification von Bunyan, D J, Eccles, D M, Sillibourne, J, Wilkins, E, Thomas, N Simon, Shea-Simonds, J, Duncan, P J, Curtis, C E, Robinson, D O, Harvey, J F, Cross, N C P

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Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain von Cross, Esther, Duncan‐Flavell, Philippa J., Howarth, Rachel J., Hobbs, James I., Thomas, Nicholas Simon, Bunyan, David J.

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SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions von Bakrania, P, Robinson, D O, Bunyan, D J, Salt, A, Martin, A, Crolla, J A, Wyatt, A, Fielder, A, Ainsworth, J, Moore, A, Read, S, Uddin, J, Laws, D, Pascuel-Salcedo, D, Ayuso, C, Allen, L, Collin, J R O, Ragge, N K

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Mechanical behavior of PDMS at low pressure von Bunyan, J, Tawfick, S

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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature von Bunyan, David J., Baffico, Maria, Capone, Lucia, Vannelli, Silvia, Iughetti, Lorenzo, Schmitt, Sébastien, Taylor, Emma-Jane, Herridge, Adam A., Shears, Deborah, Forabosco, Antonino, Coviello, Domenico A.

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Rare dosage abnormalities flanking the SHOX gene von Bunyan, David J, Gevers, Evelien, Hobbs, James I, Duncan-Flavell, Philippa J, Howarth, Rachel J, Holder-Espinasse, Muriel, Klee, Philippe

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An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing von Sandell, S, Schuit, R J L, Bunyan, D J

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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum von Girirajan, Santhosh, Vlangos, Christopher N, Szomju, Barbara B, Edelman, Emily, Trevors, Christopher D, Dupuis, Lucie, Nezarati, Marjan, Bunyan, David J, Elsea, Sarah H

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance von Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

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Deformation behaviour of polysilicon components for MEMS von Lockwood, A J, Padmanabhan, A, Bunyan, R J T, Inkson, B J

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Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways von Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C., Salt, Alison, Bunyan, David J., Wyatt, Alex, Ponting, Chris P., Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Robson, Anthony G., Neveu, Magella M., Holder, Graham E., Collin, J Richard O., Robinson, David O., Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K.

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Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature von Thomas, N. Simon, Harvey, John F., Bunyan, David J., Rankin, Julia, Grigelioniene, Giedre, Bruno, Damien L., Tan, Tiong Y., Tomkins, Susan, Hastings, Robert

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Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL... von Bunyan, David J., Thomas, N. Simon

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SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts von Bunyan, David J, Hobbs, James I, Duncan-Flavell, Philippa J, Howarth, Rachel J, Beal, Sarah, Baralle, Diana, Thomas, Nicholas Simon

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