Kerry Miller

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

Nils Koelling, Marie Bernkopf, Eduardo Calpena, Geoffrey J Maher, Kerry A Miller, Hannah K Ralph, Anne Goriely, Andrew OM Wilkie

Journal article  |  2019  |  Bioinformatics

SUMMARY: amplimap is a command-line tool to automate the processing and analysis of data from targeted next-generation sequencing ..

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

Margot RF Reijnders, Kerry A Miller, Mohsan Alvi, Jacqueline AC Goos, Melissa M Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert BA de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth-Bolard, Charu Deshpande, Claudia AL Ruivenkamp, Dagmar Wieczorek, undefined Deciphering Developmental Disorders Study, Diana Baralle, Edward M Blair, et al.

Journal article  |  2018  |  Am J Hum Genet

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we ..

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

Tobias Schwerd, Stephen RF Twigg, Dominik Aschenbrenner, Santiago Manrique, Kerry A Miller, Indira B Taylor, Melania Capitani, Simon J McGowan, Elizabeth Sweeney, Astrid Weber, Liye Chen, Paul Bowness, Andrew Riordan, Andrew Cant, Alexandra F Freeman, Joshua D Milner, Steven M Holland, Natalie Frede, Miryam Müller, Dirk Schmidt-Arras, et al.

Journal article  |  2017  |  J Exp Med

Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal..

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Kerry A Miller, Stephen RF Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie EM Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline AC Goos, Sigrid MA Swagemakers, Irene MJ Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, et al.

Journal article  |  2017  |  J Med Genet

BACKGROUND: Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolatio..

Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues

Naomi L Baker, Kerry A Miller, Donald F Newgreen, Peter G Farlie

Journal article  |  2015  |  GENE EXPRESSION PATTERNS

BACKGROUND: Olfactory receptors were initially believed to be expressed specifically within the olfactory neurons. However, accumu..

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis

Tiong Yang Tan, Christopher T Gordon, Kerry A Miller, David J Amor, Peter G Farlie

Journal article  |  2015  |  DEVELOPMENTAL DYNAMICS

BACKGROUND: The YPEL (Yippee-like) gene family comprises five highly conserved members (YPEL1-5), but their biological function re..

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Kerry A Miller, Tiong Y Tan, Megan F Welfare, Susan M White, Zornitza Stark, Ravi Savarirayan, Trent Burgess, Andrew A Heggie, Georgina Caruana, John F Bertram, John F Bateman, Peter G Farlie

Journal article  |  2014  |  Mol Syndromol

The 22q11.2 deletion syndrome (22q11DS) is thought to be a contiguous gene syndrome caused by haploinsufficiency for a variable nu..