EDUCATION

Medical School

  • University of Nottingham Medical School , 1998 , Nottingham , United Kingdom

Internship

Internal Medicine/General Surgery/Pediatrics
  • University Hospital , 1999 , Nottingham , United Kingdom

Residency

General Pediatrics
  • West Suffolk Hospital & Addenbrooke's Hospital , 2001 , East Anglia , United Kingdom

Residency

Pediatrics
  • Massachusetts General Hospital , 2003 , Boston , MA

Fellowship

Clinical Genetics
  • Harvard Medical School Genetics Training Program , 2006 , Boston , MA

CERTIFICATIONS

  • American Board of Pediatrics, General Pediatrics
  • American Board of Medical Genetics and Genomics, Clinical Genetics

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III. J Autism Dev Disord. 2021 Jan 30. View abstract
  2. The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome. Neurology. 2021 02 16; 96(7):e1024-e1035. View abstract
  3. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021 01; 185(1):203-207. View abstract
  4. Cleft Lip and Palate in Ectodermal Dysplasia. Cleft Palate Craniofac J. 2021 02; 58(2):237-243. View abstract
  5. Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia. Am J Med Genet A. 2020 08; 182(8):1890-1895. View abstract
  6. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619. View abstract
  7. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr. 2019 10; 213:235-240. View abstract
  8. Maladaptive behaviors in individuals with Angelman syndrome. . 2019 06; 179(6):983-992. View abstract
  9. Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. Prenat Diagn. 2019 08; 39(9):792-795. View abstract
  10. Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. . 2018 07; 176(7):1641-1647. View abstract
  11. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316. View abstract
  12. A randomized controlled trial of levodopa in patients with Angelman syndrome. . 2018 05; 176(5):1099-1107. View abstract
  13. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View abstract
  14. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35. View abstract
  15. Pharmacological therapies for Angelman syndrome. Wien Med Wochenschr. 2017 Jun; 167(9-10):205-218. View abstract
  16. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View abstract
  17. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. . 2015 Sep; 167A(9):2122-31. View abstract
  18. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 07; 96(5):709-19. View abstract
  19. Commentary. Clin Chem. 2015 Jan; 61(1):54. View abstract
  20. PTEN hamartoma tumour syndrome: early tumour development in children. Arch Dis Child. 2015 Jan; 100(1):34-7. View abstract
  21. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
  22. If not Angelman, what is it? A review of Angelman-like syndromes. . 2014 Apr; 164A(4):975-92. View abstract
  23. Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. . 2014 Jun; 164A(6):1580-6. View abstract
  24. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79. View abstract
  25. In: Rimoin DL, Pyeritz RE, Korf BR, editors. Emery and Rimoin's Principles and Practice of Medical Genetics. Human Developmental Genetics. 2013. View abstract
  26. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. View abstract
  27. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012 Mar; 33(3):457-66. View abstract
  28. Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. Clin Genet. 2011 Dec; 80(6):600-1. View abstract
  29. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. . 2011 Dec; 155A(12):2956-63. View abstract
  30. Angelman syndrome: Mutations influence features in early childhood. . 2011 Jan; 155A(1):81-90. View abstract
  31. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet. 2010 Dec 10; 87(6):882-9. View abstract
  32. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep; 31(7):592-601. View abstract
  33. Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype. Epilepsy Behav. 2010 Nov; 19(3):306-10. View abstract
  34. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. . 2010 Jun 05; 153B(4):937-47. View abstract
  35. Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol. 2010 Apr; 67(4):516-25. View abstract
  36. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View abstract
  37. Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. . 2007 Nov 01; 143A(21):2523-33. View abstract
  38. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007 Sep; 44(9):594-602. View abstract
  39. Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. J Child Neurol. 2006 Sep; 21(9):801-5. View abstract
  40. Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. . 2006 Sep 01; 140A(17):1876-9. View abstract
  41. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005 Sep; 116(3):757-66. View abstract
  42. A putative new locus for an autosomal recessive cerebellar ataxia syndrome on chromosome 22q11. Clin Genet. 2005 Aug; 68(2):185-7. View abstract
  43. Cockayne syndrome: the developing phenotype. . 2005 Jun 01; 135(2):214-6. View abstract
  44. Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. . 2005 Apr 15; 134A(2):220-2. View abstract
  45. Dose regimen for vancomycin not needing serum peak levels? Arch Dis Child Fetal Neonatal Ed. 2002 Nov; 87(3):F214-6. View abstract