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.

 

 

 

 

 

© 2011 Great Ormond Street Hospital for Children NHS Trust