Eeyore: A Novel Mouse Model of Hereditary Deafness

por Miller, Kerry A., Williams, Louise H., Dahl, Hans-Henrik M., Manji, Shehnaaz S. M.
Publicado 2013

Inner Ear Morphology Is Perturbed in Two Novel Mouse Models of Recessive Deafness

por Miller, Kerry A., Williams, Louise H., Rose, Elizabeth, Kuiper, Michael, Dahl, Hans-Henrik M., Manji, Shehnaaz S. M.
Publicado 2012

bfb, a Novel ENU-Induced blebs Mutant Resulting from a Missense Mutation in Fras1

por Miller, Kerry A., Gordon, Christopher T., Welfare, Megan F., Caruana, Georgina, Bertram, John F., Bateman, John F., Farlie, Peter G.
Publicado 2013

A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart

por Manji, Shehnaaz S. M., Williams, Louise H., Miller, Kerry A., Ooms, Lisa M., Bahlo, Melanie, Mitchell, Christina A., Dahl, Hans-Henrik M.
Publicado 2011

amplimap: a versatile tool to process and analyze targeted NGS data

por Koelling, Nils, Bernkopf, Marie, Calpena, Eduardo, Maher, Geoffrey J, Miller, Kerry A, Ralph, Hannah K, Goriely, Anne, Wilkie, Andrew O M
Publicado 2019

amplimap: a versatile tool to process and analyze targeted NGS data

por Koelling, Nils, Bernkopf, Marie, Calpena, Eduardo, Maher, Geoffrey J, Miller, Kerry A, Ralph, Hannah K, Goriely, Anne, Wilkie, Andrew O M
Publicado 2020

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

por Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge
Publicado 2022

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

por Miller, Kerry A., Ah-Cann, Casey J., Welfare, Megan F., Tan, Tiong Y., Pope, Kate, Caruana, Georgina, Freckmann, Mary-Louise, Savarirayan, Ravi, Bertram, John F., Dobbie, Michael S., Bateman, John F., Farlie, Peter G.
Publicado 2013

Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

por Caruana, Georgina, Farlie, Peter G., Hart, Adam H., Bagheri-Fam, Stefan, Wallace, Megan J., Dobbie, Michael S., Gordon, Christopher T., Miller, Kerry A., Whittle, Belinda, Abud, Helen E., Arkell, Ruth M., Cole, Timothy J., Harley, Vincent R., Smyth, Ian M., Bertram, John F.
Publicado 2013

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

por Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.
Publicado 2015

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

por Schwerd, Tobias, Twigg, Stephen R.F., Aschenbrenner, Dominik, Manrique, Santiago, Miller, Kerry A., Taylor, Indira B., Capitani, Melania, McGowan, Simon J., Sweeney, Elizabeth, Weber, Astrid, Chen, Liye, Bowness, Paul, Riordan, Andrew, Cant, Andrew, Freeman, Alexandra F., Milner, Joshua D., Holland, Steven M., Frede, Natalie, Müller, Miryam, Schmidt-Arras, Dirk, Grimbacher, Bodo, Wall, Steven A., Jones, E. Yvonne, Wilkie, Andrew O.M., Uhlig, Holm H.
Publicado 2017

Diagnostic value of exome and whole genome sequencing in craniosynostosis

por Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Publicado 2017

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

por Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., Littlejohn, Rebecca O., Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander P.A., Kant, Sarina G., McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid M.A., Douzgou, Sofia, Wall, Steven A., Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J., Twigg, Stephen R.F., Mathijssen, Irene M.J., Nellaker, Christoffer, Brunner, Han G., Wilkie, Andrew O.M.
Publicado 2018

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

por Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Publicado 2015