* More than 25 years of experience* Consultant Geneticist, HCA The Shard, London (present) * Consultant Geneticist, The Portland Hospital, London (present)* Consultant Geneticist and Honorary Reader in Clinical Genetics, Guy's and St Thomas' NHS Trust, London (present)* Joint head of service, Department of Clinical Genetics, Guy's Hospital (2014 - 2016) ...

* Fellowship in Skeletal Dysplasia, The Royal Children's Hospital* Fellowship, The Murdoch Children's Research Institute * MD(Res), King's College London (2014)* MRCPH, Membership of the Royal College of Paediatrics and Child Health (1999)* Senior House Officer, East London Paediatric Training Scheme (1998 - 2000)* MBBS, The London Hospital Medical College, University of London (1996)* BSc(Hons) in Genetics, University College London (1994)* FRCPCH, Fellow of the Royal College of Paediatrics and Child Health (2019) ...

* Skeletal Dysplasia Management Consortium* UK Skeletal Dysplasia Group * PanThames Skeletal Dysplasia Group* The Royal Society of Medicine ...

* Winner of the Genetic Healthcare Provider (GHP) Private Healthcare Awards  (2019)* Maroteaux Award for furthering the understanding of skeletal conditions (2011) * Ellison-Cliffe Foundation travelling fellow award, the Royal Society of Medicine (2006)* Guy€™s and St Thomas€™ Charity staff development award (2006) ...

* Chromosomal anomalities:-* Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions * Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.* Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.* A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome* Developmental disorders and genetic syndromes:-* Prevalence and architecture of de novo mutations in developmental disorders. Deciphering Developmental Disorders Study* Clinical and genetic aspects of KBG syndrome* De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms* Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study* Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome* De novo mutations in MLL cause Wiedemann-Steiner syndrome* Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation* Infantile onset myofibrillar myopathy due to recessive CRYAB mutations* Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity* Neonatal teeth in X-linked Opitz (G/BBB) syndrome* Genomic disorders:-* The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies* Skeletal dysplasia:-* Best Practices in Peri-Operative Management of Patients with Skeletal Dysplasia* Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family* Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene* End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome* Clinical utility gene card for: 3-M syndrome - update 2013* Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome* Clinical management of achondroplasia* Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation* Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss* Clinical utility gene card for: 3M syndrome* Chondrodysplasia punctata: a clinical diagnostic and radiological review* Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia* IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy* Cancer Genetics:-* Breast cancer genetics: unsolved questions and open perspectives in an expanding clinical practice* Genetics of breast cancer ...

* Trustee of the Royal Society of Medicine* Trustee of the Royal Society of Medicine

* Faculty Member, Skeletal Dysplasia Group Instructional Course (2012 - present)* Lecturer to undergraduate medical students, King's School of Medicine (2007 - present) * Postgraduate Training Lead, Clinical Genetics, Guy's Hospital (2005 - present)* Career insight and taster sessions in Clinical Genetics, Programme Coordinator (2004 - present) ...