Publications
2016
Chromosomal microarray testing in adults with
intellectual disability presenting with comorbid psychiatric
disorders.
Wolfe K, Strydom A, Morrogh D, Carter J, Cutajar P,
Eyeoyibo M, Hassiotis A, McCarthy J, Mukherjee R, Paschos D,
Perumal N, Read S, Shankar R, Sharif S, Thirulokachandran S,
Thygesen JH, Patch C, Ogilvie C, Flinter F, McQuillin A, Bass
N.
Eur J Hum Genet 2016. Sep 21
Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a
National Health Service Laboratory; From Dominant to Recessive
Disorders.
Drury S, Mason S, McKay F, Lo K, Boustred C, Jenkins L, Chitty
LS.
Adv Exp Med Biol 2016; 924: 71-75.
Uptake, outcomes, and costs of implementing
non-invasive prenatal testing for Down's syndrome into NHS
maternity care: prospective cohort study in eight diverse maternity
units.
Chitty LS, Wright D, Hill M, Verhoef TI, Daley R,
Lewis C, Mason S, McKay F, Jenkins L, Howarth A, Cameron L, McEwan
A, Fisher J, Kroese M, Morris S.
BMJ 2016: July 4; 354
Non-invasive prenatal diagnosis (NIPD) for
single gene disorders: cost analysis of NIPD and invasive testing
pathways.
Verhoef TI, Hill M, Drury S, Mason S, Jenkins L,
Morris S, Chitty LS.
Prenat Diagn 2016. 26(7): 636-642
Renal apnoea: extreme disturbance of homeostasis in a child with
Bartter syndrome type IV.
Plumb LA, Van't Hoff W, Kleta R, Reid C, Ashton E,
Samuels M, Bockenhauer D.
Lancet 2016. 388(10044): 631-2.
Delineation of the movement disorders associated with FOXG1
mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K,
Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM,
Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI,
Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F,
Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA.
Neurology 2016. 86(19): 1794-1800.
Improving diagnosis and broadening the phenotypes in
early-onset seizure and severe developmental delay disorders
through gene panel analysis.
Trump N, McTague A, Brittain H, Papandreou A, Meyer
E, Ngoh A, Palmer R, Morrogh D, Boustred C, Hurst JA, Jenkins L,
Kurian MA, Scott RH.
J Med Genet 2016. 53(5): 310
De Nove Interstitial Microdeletion at 1q32.1
in a 10-Year-Old Boy with Developmental Delay and
Dysmorphism.
Carter J, Zombor M, Mate A, Sztriha L, Waters
JJ.
Case Rep Genet 2016. 250: 1741.
Genetic and clinical characterization of
Pakistani families with Bardet-Biedl syndrome extends the genetic
and phenotypic spectrum.
Maria M, Lamers IJ, Schmidts M, Ajmal M, Jaffar S,
Ullah E, Mustafa B, Ahmad S, Nazmutdinova K, Hoskins B, van Wijk E,
Koster-Kamphuis L, Khan MI, Beales PL, Cremers FP, Roepman R, Azam
M, Arts HH, Qamar R.
Sci Rep 2016. 6: 34764
Risk Factors for Severe Renal Disease in
Bardet-Biedl Syndrome.
Forsythe E, Sparks K, Best S, Borrows S, Hoskins B,
Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford
DV, Bockenhauer D, Foggensteiner L, Beales PL.
J Am Soc Nephrol 2016 Sep 22
2015
Non-invasive prenatal diagnosis for cystic fibrosis:
detection of paternal mutations, exploration of patient preferences
and cost analysis.
Hill M, Twiss P, Verhoef TI, Drury S, McKay F, Mason S, Jenkins
L, Morris S, Chitty LS.
Prenat Diagn 2015. 35(10): 950-958.
Exome sequencing for prenatal diagnosis of fetuses with
sonographic abnormalities.
Drury S, Williams H, Trump N, Boustred C, GOSGene, Lench N,
Scott RH, Chitty LS.
Prenat Diagn 2015. 35(10): 1010-1017
Non-invasive prental diagnosis of achondroplasia and
thanatophoric dysplasia: next-generation sequencing allows for a
safer, more accurate, and comprehensive approach.
Chitty LS, Mason S, Barrett AN, McKay F, Lench N, Daley
R, Jenkins LA.
Prenat Diagn 2015. 35(7): 656-662.
Genetic predictors of cardiovascular morbidity in
Bardet-Biedl syndrome.
Forsythe E, Sparks K, Hoskins BE, Bagkeris E,
McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T,
Mohammed S, Beales PL.
Clin Genet 2015. 87(4): 343-349.
Mitochondrial m.1584A 12S m62A rRNA methylation in
families with m.1555A>G associated hearing loss.
O'Sullivan M, Rutland P, Lucas D, Ashton E,
Hendricks S, Rahman S, Bitner-Glindzicz M.
Hum Mol Genet 2015. 24(4): 1036-1044.