Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review von Verhaart, Ingrid E C, Robertson, Agata, Wilson, Ian J, Aartsma-Rus, Annemieke, Cameron, Shona, Jones, Cynthia C, Cook, Suzanne F, Lochmüller, Hanns

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Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases von Hudson, Gavin, Gomez-Duran, Aurora, Wilson, Ian J, Chinnery, Patrick F

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care von Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.

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Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations von Payne, Brendan A I, Wilson, Ian J, Hateley, Charlotte A, Horvath, Rita, Santibanez-Koref, Mauro, Samuels, David C, Price, D Ashley, Chinnery, Patrick F

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Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans von Pyle, Angela, Hudson, Gavin, Wilson, Ian J, Coxhead, Jonathan, Smertenko, Tania, Herbert, Mary, Santibanez-Koref, Mauro, Chinnery, Patrick F

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A predominantly neolithic origin for European paternal lineages von Balaresque, Patricia, Bowden, Georgina R, Adams, Susan M, Leung, Ho-Yee, King, Turi E, Rosser, Zoë H, Goodwin, Jane, Moisan, Jean-Paul, Richard, Christelle, Millward, Ann, Demaine, Andrew G, Barbujani, Guido, Previderè, Carlo, Wilson, Ian J, Tyler-Smith, Chris, Jobling, Mark A

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Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors von Pickett, Sarah J., Grady, John P., Ng, Yi Shiau, Gorman, Gráinne S., Schaefer, Andrew M., Wilson, Ian J., Cordell, Heather J., Turnbull, Doug M., Taylor, Robert W., McFarland, Robert

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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls von Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.

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Filaggrin null mutations and childhood atopic eczema: A population-based case-control study von Brown, Sara J., MRCP, Relton, Caroline L., PhD, Liao, Haihui, MD, Zhao, Yiwei, MD, Sandilands, Aileen, PhD, Wilson, Ian J., PhD, Burn, John, MD, Reynolds, Nick J., MD, McLean, W. H. Irwin, PhD, DSc, Cordell, Heather J., DPhil

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Universal heteroplasmy of human mitochondrial DNA von Payne, Brendan A I, Wilson, Ian J, Yu-Wai-Man, Patrick, Coxhead, Jonathan, Deehan, David, Horvath, Rita, Taylor, Robert W, Samuels, David C, Santibanez-Koref, Mauro, Chinnery, Patrick F

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Inferences from DNA data: population histories, evolutionary processes and forensic match probabilities von Wilson, Ian J., Weale, Michael E., Balding, David J.

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Genealogical Inference From Microsatellite Data von Wilson, Ian J, Balding, David J

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Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations von Devane, John, Ott, Elisabeth, Olinger, Eric G., Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J., Rice, Sarah J., Miles, Colin G., Wood, Katrina, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A., Bergmann, Carsten

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Inferring Population History From Microsatellite and Enzyme Data in Serially Introduced Cane Toads, Bufo marinus von Estoup, Arnaud, Wilson, Ian J, Sullivan, Claire, Cornuet, Jean-Marie, Moritz, Craig

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Mitochondrial Donation — Which Women Could Benefit? von Pickett, Sarah J, Blain, Alasdair, Ng, Yi Shiau, Wilson, Ian J, Taylor, Robert W, McFarland, Robert, Turnbull, Doug M, Gorman, Gráinne S

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A new paramagnetically shifted imaging probe for MRI von Senanayake, P. Kanthi, Rogers, Nicola J., Finney, Katie‐Louise N.A., Harvey, Peter, Funk, Alexander M., Wilson, J. Ian, O'Hogain, Dara, Maxwell, Ross, Parker, David, Blamire, Andrew M.

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Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck von Wilson, Ian J, Carling, Phillipa J, Alston, Charlotte L, Floros, Vasileios I, Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C E H, Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A, Samuels, David C, Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W, Smeets, Hubert J M, Horvath, Rita, Chinnery, Patrick F

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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure von Pfeffer, Gerald, Barresi, Rita, Wilson, Ian J, Hardy, Steven A, Griffin, Helen, Hudson, Judith, Elliott, Hannah R, Ramesh, Aravind V, Radunovic, Aleksandar, Winer, John B, Vaidya, Sujit, Raman, Ashok, Busby, Mark, Farrugia, Maria E, Ming, Alec, Everett, Chris, Emsley, Hedley C A, Horvath, Rita, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, Chinnery, Patrick F, Sarkozy, Anna

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Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome von Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso‐Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian J., Cordell, Heather J., Olinger, Eric, Miles, Colin G., Sayer, John A., Wheway, Gabrielle, Lucas, Jane S.

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Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations von Griffin, Helen R., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Duff, Jennifer, Hudson, Gavin, Horvath, Rita, Wilson, Ian J., Santibanez-Koref, Mauro, Taylor, Robert W., Chinnery, Patrick F.

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