| Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34 M Slegtenhorst, R Hoogt, C Hermans, M Nellist, B Janssen, S Verhoef, ... Science 277 (5327), 805-808, 1997 | 1942 | 1997 |
| Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome P Dhami, AJ Coffey, S Abbs, JR Vermeesch, JP Dumanski, KJ Woodward, ... The American Journal of Human Genetics 76 (5), 750-762, 2005 | 167 | 2005 |
| Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH K Woodward, E Kendall, D Vetrie, S Malcolm The American Journal of Human Genetics 63 (1), 207-217, 1998 | 129 | 1998 |
| Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination KJ Woodward, M Cundall, K Sperle, EA Sistermans, M Ross, G Howell, ... The American Journal of Human Genetics 77 (6), 966-987, 2005 | 126 | 2005 |
| Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease NI Wolf, EA Sistermans, M Cundall, GM Hobson, AP Davis-Williams, ... Brain 128 (4), 743-751, 2005 | 122 | 2005 |
| The molecular and cellular defects underlying Pelizaeus–Merzbacher disease KJ Woodward Expert reviews in molecular medicine 10, e14, 2008 | 109 | 2008 |
| Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination NI Wolf, M Cundall, P Rutland, E Rosser, R Surtees, S Benton, WK Chong, ... Neurogenetics 8, 39-44, 2007 | 56 | 2007 |
| Proteolipid protein gene: Pelizaeus–Merzbacher disease in humans and neurodegeneration in mice K Woodward, S Malcolm Trends in genetics 15 (4), 125-128, 1999 | 56 | 1999 |
| Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome ME Hodes, K Woodward, NB Spinner, BS Emanuel, A Enrico-Simon, ... The American Journal of Human Genetics 67 (1), 14-22, 2000 | 51 | 2000 |
| Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy MA Corbett, CL van Eyk, DL Webber, SJ Bent, M Newman, K Harper, ... NPJ genomic medicine 3 (1), 33, 2018 | 49 | 2018 |
| Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants V Bahrambeigi, X Song, K Sperle, CR Beck, H Hijazi, CM Grochowski, ... Genome Medicine 11, 1-17, 2019 | 37 | 2019 |
| Atypical nested 22q11. 2 duplications between LCR 22B and LCR 22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance KJ Woodward, J Stampalia, H Vanyai, H Rijhumal, K Potts, F Taylor, ... Molecular genetics & genomic medicine 7 (2), e00507, 2019 | 37 | 2019 |
| X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations K Woodward, K Kirtland, S Dlouhy, W Raskind, T Bird, S Malcolm, ... European Journal of Human Genetics 8 (6), 449-454, 2000 | 37 | 2000 |
| Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse A Pilz, K Woodward, S Povey, C Abbott Genomics 25 (1), 139-149, 1995 | 37 | 1995 |
| Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature IA Hemming, ARR Forrest, P Shipman, KJ Woodward, P Walsh, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 171 …, 2016 | 27 | 2016 |
| CNS myelination and PLP gene dosage K Woodward, S Malcolm Pharmacogenomics 2 (3), 263-272, 2001 | 25 | 2001 |
| A review of structural brain abnormalities in Pallister‐Killian syndrome C Poulton, G Baynam, C Yates, H Alinejad‐Rokny, S Williams, H Wright, ... Molecular genetics & genomic medicine 6 (1), 92-98, 2018 | 20 | 2018 |
| Mapping of RXRB to human chromosome 6p21. 3 J Fitzgibbon, GT Gillett, KJ Woodward, JM Boyle, J Wolfe, S Povey Annals of human genetics 57 (3), 203-209, 1993 | 20 | 1993 |
| Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus‐Merzbacher disease K Woodward, M Cundall, R Palmer, R Surtees, RM Winter, S Malcolm American Journal of Medical Genetics Part A 118 (1), 15-24, 2003 | 18 | 2003 |
| Prenatal diagnosis by FISH in a family with Pelizaeus–Merzbacher disease caused by duplication of the PLP gene K Woodward, R Palmer, K Rao, S Malcolm Prenatal Diagnosis: Published in Affiliation With the International Society …, 1999 | 17 | 1999 |
