Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome
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
Published in PLoS genetics (01.08.2013)
Published in PLoS genetics (01.08.2013)
Get full text
Journal Article
Inner ear morphology is perturbed in two novel mouse models of recessive deafness
Miller, Kerry A, Williams, Louise H, Rose, Elizabeth, Kuiper, Michael, Dahl, Hans-Henrik M, Manji, Shehnaaz S M
Published in PloS one (12.12.2012)
Published in PloS one (12.12.2012)
Get full text
Journal Article
bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1
Miller, Kerry A, Gordon, Christopher T, Welfare, Megan F, Caruana, Georgina, Bertram, John F, Bateman, John F, Farlie, Peter G
Published in PloS one (15.10.2013)
Published in PloS one (15.10.2013)
Get full text
Journal Article
Eeyore: a novel mouse model of hereditary deafness
Miller, Kerry A, Williams, Louise H, Dahl, Hans-Henrik M, Manji, Shehnaaz S M
Published in PloS one (23.09.2013)
Published in PloS one (23.09.2013)
Get full text
Journal Article
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease
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
Published in PloS one (01.03.2013)
Published in PloS one (01.03.2013)
Get full text
Journal Article
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
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
Published in The Journal of experimental medicine (04.09.2017)
Published in The Journal of experimental medicine (04.09.2017)
Get full text
Journal Article
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge
Published in Journal of medical genetics (01.08.2022)
Published in Journal of medical genetics (01.08.2022)
Get full text
Journal Article
Diagnostic value of exome and whole genome sequencing in craniosynostosis
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
Published in Journal of medical genetics (01.04.2017)
Published in Journal of medical genetics (01.04.2017)
Get full text
Journal Article
amplimap: a versatile tool to process and analyze targeted NGS data
Koelling, Nils, Bernkopf, Marie, Calpena, Eduardo, Maher, Geoffrey J, Miller, Kerry A, Ralph, Hannah K, Goriely, Anne, Wilkie, Andrew O M
Published in Bioinformatics (Oxford, England) (15.12.2019)
Published in Bioinformatics (Oxford, England) (15.12.2019)
Get full text
Journal Article
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
Miller, Kerry A, Cruz Walma, David A, Pinkas, Daniel M, Tooze, Rebecca S, Bufton, Joshua C, Richardson, William, Manning, Charlotte E, Hunt, Alice E, Cros, Julien, Hartill, Verity, Parker, Michael J, McGowan, Simon J, Twigg, Stephen R F, Chalk, Rod, Staunton, David, Johnson, David, Wilkie, Andrew O M, Bullock, Alex N
Published in Journal of medical genetics (31.01.2024)
Published in Journal of medical genetics (31.01.2024)
Get full text
Journal Article
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
Get full text
Journal Article
amplimap: a versatile tool to process and analyze targeted NGS data
Koelling, Nils, Bernkopf, Marie, Calpena, Eduardo, Maher, Geoffrey J, Miller, Kerry A, Ralph, Hannah K, Goriely, Anne, Wilkie, Andrew O M
Published in Bioinformatics (15.04.2020)
Published in Bioinformatics (15.04.2020)
Get full text
Journal Article
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
Get full text
Journal Article
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., Wilkie, Andrew O.M.
Published in Genetics in Medicine Open (01.09.2023)
Published in Genetics in Medicine Open (01.09.2023)
Get full text
Journal Article
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability
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.
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
Get full text
Journal Article
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus
Maroofian, Reza, Pagnamenta, Alistair T., Navabazam, Alireza, Schwessinger, Ron, Roberts, Hannah E., Lopopolo, Maria, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Haerian, Alireza, Soltanianzadeh, Mojtaba, Noori Kooshki, Mohammad Hadi, Knight, Samantha J.L., Miller, Kerry A., McGowan, Simon J., Chatron, Nicolas, Timberlake, Andrew T., Melo, Uirá Souto, Mundlos, Stefan, Buck, David, Twigg, Stephen R.F., Taylor, Jenny C., Wilkie, Andrew O.M., Calpena, Eduardo
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
Get full text
Journal Article
Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues
Baker, Naomi L., Miller, Kerry A., Newgreen, Donald F., Farlie, Peter G.
Published in Gene Expression Patterns (01.09.2015)
Published in Gene Expression Patterns (01.09.2015)
Get full text
Journal Article