Pauline Rehal

A new locus-specific database (LSDB) for mutations in the folliculin (<i>FLCN</i>) gene

Derek H.K. Lim, Pauline Rehal, Michael S. Nahorski et al. · Human Mutation · 2009 · 114 citations

Genetics, Molecular Biology, Pathology +17

Investigation of the Birt–Hogg–Dubé tumour suppressor gene (<i>FLCN</i>) in familial and sporadic colorectal cancer

Michael S. Nahorski, Derek Lim, Lynn Martin et al. · Journal of Medical Genetics · 2010 · 93 citations · Full text

<i>CHRNG</i> genotype–phenotype correlations in the multiple pterygium syndromes

Julie Vogt, Neil V. Morgan, Pauline Rehal et al. · Journal of Medical Genetics · 2011 · 49 citations

Diffuse Cystic Lung Disease of Unexplained Cause With Coexistent Small Airway Disease

Camilla Rowan, David M. Hansell, Elisabetta Renzoni et al. · The American Journal of Surgical Pathology · 2011 · 33 citations

Asthma, Inflammatory Lung Disease, Advanced Lung Disease +16

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

Danielle Crompton, Pauline Rehal, Lesley MacPherson et al. · Molecular Genetics and Metabolism · 2010 · 29 citations · Full text

Molecular Diagnosis, Genetic Disorder, Medicine +11