Peter Turnpenny
Professor of Clinical Genomics
P.Turnpenny3@exeter.ac.uk
Publications
Books
Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, et al (2009). Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans. Abstract.
Turnpenny PD (2008). Defective somitogenesis and abnormal vertebral segmentation in man. Abstract.
Journal articles
Carrieri D, Lucassen AM, Clarke AJ, Dheensa S, Doheny S, Turnpenny PD, Kelly SE (In Press). Recontact in clinical practice: a survey of clinical genetics services in the UK.
Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turnpenny PD, Lucassen AM, Kelly SE (In Press). Recontacting in clinical genetics and genomic medicine? We need to talk about it. European Journal of Human Genetics
Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turpenny PD, Lucassen AM, Kelly SE (In Press). Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom. European Journal of Human Genetics
Carrieri D, Dheensa S, Doheny S, Clarke A, Tunpenny P, Kelly S (In Press). Recontacting in clinical practice: the views and expectations of patients in the United Kingdom. European Journal of Human Genetics
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, et al (2024). TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. Am J Med Genet A Abstract. Author URL.
Bluett-Duncan M, Astill D, Charbak R, Clayton-Smith J, Cole S, Cook PA, Cozens J, Keely K, Morris J, Mukherjee R, et al (2023). Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: a contribution from the ConcePTION project. Neurotoxicology and Teratology, 98
Bluett-Duncan M, Astill D, Charbak R, Clayton-Smith J, Cole S, Cook PA, Cozens J, Keely K, Morris J, Mukherjee R, et al (2023). Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: a contribution from the ConcePTION project. Neurotoxicol Teratol, 100 Abstract. Author URL.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, et al (2023). SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain, 146(11), 4547-4561. Abstract. Author URL.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, et al (2022). Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet, 109(11), 2068-2079. Abstract. Author URL.
Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, et al (2022). Expanding the phenotype of TAB2 variants and literature review. Am J Med Genet A, 188(11), 3331-3342. Abstract. Author URL.
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, et al (2022). Further delineation of phenotypic spectrum of <i>SCN2A</i>-related disorder. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 188(3), 867-877. Author URL.
Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, et al (2022). Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A, 188(10), 2958-2968. Abstract. Author URL.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Nemeth AH, Tofaris GK, Hay E, et al (2022). The Phenotypic Continuum of ATP1A3-Related Disorders. Neurology, 99(14), e1511-e1526.
Jouret G, Heide S, Sorlin A, Faivre L, Chantot-Bastaraud S, Beneteau C, Denis-Musquer M, Turnpenny PD, Coutton C, Vieville G, et al (2022). Understanding the new <i>BRD4</i>-related syndrome: Clinical and genomic delineation with an international cohort study. CLINICAL GENETICS, 102(2), 117-122. Author URL.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, et al (2021). Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet, 108(10), 2006-2016. Abstract. Author URL.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, et al (2021). Consolidating biallelic <i>SDHD</i> variants as a cause of mitochondrial complex II deficiency. EUROPEAN JOURNAL OF HUMAN GENETICS, 29(10), 1570-1576. Author URL.
Poole RL, Curry PDK, Marcinkute R, Brewer C, Coman D, Hobson E, Johnson D, Lynch SA, Saggar A, Searle C, et al (2021). Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Am J Med Genet A, 185(8), 2445-2454. Abstract. Author URL.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, et al (2021). Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med, 23(11), 2122-2137. Abstract. Author URL.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, et al (2021). Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med, 23(6), 1028-1040. Abstract. Author URL.
Khalaf-Nazzal R, Fasham J, Ubeyratna N, Evans DJ, Leslie JS, Warner TT, Al-Hijawi F, Alshaer S, Baker W, Turnpenny PD, et al (2021). Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia. BRAIN SCIENCES, 11(5). Author URL.
Forde C, Burkitt-Wright E, Turnpenny PD, Haan E, Ealing J, Mansour S, Holder M, Lahiri N, Dixit A, Procter A, et al (2021). Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. European Journal of Human Genetics, 30(3), 291-297.
Chmielewska JJ, Burkardt D, Granadillo JL, Slaugh R, Morgan S, Rotenberg J, Keren B, Mignot C, Escobar L, Turnpenny P, et al (2021). PTPN4 germline variants result in aberrant neurodevelopment and growth. HGG Adv, 2(3). Abstract. Author URL.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, et al (2021). SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet, 108(3), 502-516. Abstract. Author URL.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, et al (2021). The contribution of X-linked coding variation to severe developmental disorders. Nature Communications, 12(1). Abstract.
Callaghan MB, Hadden R, King JS, Lachlan K, van Dijk FS, Turnpenny PD (2020). Amniotic band sequence in paternal half-siblings with vascular Ehlers–Danlos syndrome. American Journal of Medical Genetics, Part A, 182(3), 553-556. Abstract.
Durkin A, Albaba S, Fry AE, Morton JE, Douglas A, Beleza A, Williams D, Volker-Touw CML, Lynch SA, Canham N, et al (2020). Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review. American Journal of Medical Genetics, Part A, 182(7), 1637-1654. Abstract.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, et al (2020). Correction: the CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med, 22(3). Abstract. Author URL.
Childs AJ, Mabin DC, Turnpenny PD (2020). Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. American Journal of Medical Genetics, Part A, 182(8), 1939-1943. Abstract.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, et al (2020). Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), 757-762. Abstract.
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, et al (2020). Opposite Modulation of RAC1 by Mutations in TRIO is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. American Journal of Human Genetics, 106(3), 338-355. Abstract.
Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, et al (2020). Primrose syndrome: Characterization of the phenotype in 42 patients. Clin Genet, 97(6), 890-901. Abstract. Author URL.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, et al (2020). The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med, 22(2), 389-397. Abstract. Author URL.
Piña-Aguilar RE, Simpson SA, Alshatti A, Clarke A, Craufurd D, Dorkins H, Doye K, Lahiri N, Lashwood A, Lynch C, et al (2019). 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genet Med, 21(7), 1639-1643. Abstract. Author URL.
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, et al (2019). Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun, 10(1). Abstract. Author URL.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, et al (2019). Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. Clinical Genetics, 95(6), 693-703. Abstract.
Clayton-Smith J, Bromley R, Dean J, Journel H, Odent S, Wood A, Williams J, Cuthbert V, Hackett L, Aslam N, et al (2019). Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability. Orphanet J Rare Dis, 14(1). Abstract. Author URL.
Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG, Armstrong R, McEntagart M, Newbury-Ecob R, Tobias ES, Joss S, et al (2019). Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. European Journal of Medical Genetics, 62(1), 27-34. Abstract.
Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, Hawkins N, Halbersma-Konings TF, Jackson L, Kayserili H, et al (2019). Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics, 27(2).
Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, et al (2018). Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. American Journal of Human Genetics, 103(1), 100-114. Abstract.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, et al (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1). Abstract.
Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Döcker M, Fleck T, Mosca I, Manocchio L, et al (2018). De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. Annals of Neurology, 83(6), 1198-1204. Abstract.
Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, et al (2018). Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn, 38(1), 33-43. Abstract. Author URL.
Doheney S, Clarke A, Carrieri D, Dheensa S, Hawkins N, Lucassen A, Turnpenny P, Kelly SE (2018). Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”. New Genetics and Society, 37(3)
Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, et al (2018). Erratum: Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features (The American Journal of Human Genetics (2018) 103(5) (786–793), (S0002929718303239), (10.1016/j.ajhg.2018.09.012)). American Journal of Human Genetics, 103(6), 1054-1055. Abstract.
Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, et al (2018). Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. American Journal of Human Genetics, 103(5), 786-793. Abstract.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, et al (2018). Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362(6419), 1161-1164. Abstract. Author URL.
Sirchia F, Carrieri D, Dheensa S, Benjamin C, Kayserili H, Cordier C, Van El CG, Turnpenny PD, Melegh B, Mendes Á, et al (2018). Recontacting or not recontacting? a survey of current practices in clinical genetics centres in Europe. European Journal of Human Genetics, 26(7), 946-954. Abstract.
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, et al (2018). The Tatton-Brown-Rahman Syndrome: a clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Research, 3 Abstract.
Blanchet P, Bebin M, Bruet S, Cooper GM, Thompson ML, Duban-Bedu B, Gerard B, Piton A, Suckno S, Deshpande C, et al (2017). <i>MYT1L</i> mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PLOS GENETICS, 13(8). Author URL.
Dheensa S, Carrieri D, Kelly S, Clarke A, Doheny S, Turnpenny P, Lucassen A (2017). A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation. Eur J Med Genet, 60(7), 403-409. Abstract. Author URL.
Rawlins LE, Stals KL, Eason JD, Turnpenny PD (2017). De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia. Clin Dysmorphol, 26(2), 95-97. Author URL.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, et al (2017). Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia, 58(4), 565-575. Abstract.
Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, et al (2017). Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics, 49(2), 223-237. Abstract.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell A-M, Brandli A, et al (2017). Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. J Am Soc Nephrol, 28(8), 2529-2539. Abstract. Author URL.
Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, et al (2016). Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int, 90(1), 203-211. Abstract. Author URL.
Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, et al (2016). Clinical and genetic aspects of KBG syndrome. American Journal of Medical Genetics, Part A, 170(11), 2835-2846. Abstract.
Turnpenny PD (2016). Digesting GWAS. Cellular and Molecular Gastroenterology and Hepatology, 2(5), 542-543.
Carrieri D, Farrimond HR, Kelly SE, Turnpenny PD (2016). Families dealing with the uncertainty of genetic disorders:
the case of Neurofibromatosis Type 1. Sociology of Health and Illness, 38(5), 753-767. Abstract.
Turnpenny P (2016). The Fragile-X Syndrome and Adoption. Adoption & Fostering, 17(3), 46-48.
Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H (2015). An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet, 23(3), 401-404. Abstract. Author URL.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, et al (2015). Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet, 47(11), 1363-1369. Abstract. Author URL.
Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519(7542), 223-228. Abstract.
Osio D, Jain N, Archer N, Turnpenny PD (2015). Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31). Clinical Dysmorphology, 24(3), 132-134. Abstract.
Sansbury FH, Cordell HJ, Bingham C, Bromilow G, Nicholls A, Powell R, Shields B, Smyth L, Warwicker P, Strain L, et al (2014). Factors determining penetrance in familial atypical haemolytic uraemic syndrome. J Med Genet, 51(11), 756-764. Abstract. Author URL.
Broadbent H, Farran EK, Chin E, Metcalfe K, Tassabehji M, Turnpenny P, Sansbury F, Meaburn E, Karmiloff-Smith A (2014). Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients. J Neurodev Disord, 6(1). Abstract. Author URL.
Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CLS, Weedon MN, Ellard S (2014). Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet, 51(4), 264-267. Abstract. Author URL.
Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M, Magee AC, Turnpenny PD, Baralle D (2014). Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. Journal of Medical Genetics, 51(12), 806-813. Abstract.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, et al (2013). An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet, 45(8), 947-950. Abstract. Author URL.
Turnpenny PD (2013). From the Ottomans to the present day: 150 years of scottish medical charity in the holy land. BMJ (Online), 347
Rankin J, Short J, Turnpenny P, Castle B, Hanemann CO (2013). Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. Am J Med Genet A, 161A(8), 2027-2029. Abstract. Author URL.
Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJL, Krepischi ACV, Nordenskjöld A, Price SM, Rosenberg C, et al (2013). Molecular and clinical delineation of the 17q22 microdeletion phenotype. European Journal of Human Genetics, 21(10), 1085-1092. Abstract.
Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, et al (2013). Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. American Journal of Medical Genetics, Part A
Fry AE, Kerr MP, Gibbon F, Turnpenny PD, Hamandi K, Stoodley N, Robertson SP, Pilz DT (2013). Neuropsychiatric disease in patients with periventricular heterotopia. Journal of Neuropsychiatry and Clinical Neurosciences, 25(1), 26-31. Abstract.
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, et al (2013). Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet, 92(5), 781-791. Abstract. Author URL.
Pitceathly RDS, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, et al (2012). Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain, 135(11), 3392-3403. Abstract.
Turnpenny PD, Ellard S (2012). Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet, 20(3), 251-257. Abstract. Author URL.
Phadke SR, Ranganath P, Boggula VR, Gupta D, Phadke RV, Sloman M, Turnpenny PD (2012). Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome?. American Journal of Medical Genetics, Part A, 158 A(12), 3065-3070. Abstract.
Guegan K, Stals K, Day M, Turnpenny P, Ellard S (2012). JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome. Clin Genet, 82(1), 33-40. Abstract. Author URL.
Sansbury FH, Ellard S, Shaw-Smith C, Turnpenny P (2012). Many patients have an identifiable genetic cause of Hirschsprung's disease. BMJ, 345 Author URL.
Burkitt-Wright EM, Bradley L, Shorto J, Mcconnell VP, Gannon C, Firth HV, Park S-M, D'Amore A, Munyard PF, Turnpenny PD, et al (2012). Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. American Journal of Medical Genetics, Part A
Karmiloff-Smith A, Broadbent H, Farran EK, Longhi E, D'Souza D, Metcalfe K, Tassabehji M, Wu R, Senju A, Happé F, et al (2012). Social cognition in Williams syndrome: Genotype/phenotype insights from partial deletion patients. Frontiers in Psychology, 3(MAY). Abstract.
Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, et al (2011). <i>RRM2B</i> MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS. NEUROLOGY, 76(23), 2032-2034. Author URL.
Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, et al (2011). Bohring-Opitz (Oberklaid-Danks) syndrome: Clinical study, review of the literature, and discussion of possible pathogenesis. European Journal of Human Genetics, 19(5), 513-519. Abstract.
Turnpenny PD (2011). Cassidy and Allanson: Management of Genetic Syndromes, 3rd edition. Human Genetics, 130(4), 581-582.
Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA (2011). Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatric Radiology, 41(3), 384-388. Abstract.
Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, et al (2011). Mutations in <i>CEP57</i> cause mosaic variegated aneuploidy syndrome. NATURE GENETICS, 43(6), 527-529. Author URL.
Donnelly DE, Turnpenny P, McConnell VPM (2011). Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome. Clin Dysmorphol, 20(4), 175-181. Abstract. Author URL.
Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD (2010). Autosomal Dominant Spondylocostal Dysostosis in Three Generations of a Macedonian Family: Negative Mutation Analysis of <i>DLL3</i>, <i>MESP2</i>, <i>HES7</i>, and <i>LFNG</i>. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(6), 1378-1382. Author URL.
Turner JJO, Christie PT, Pearce SHS, Turnpenny PD, Thakker RV (2010). Diagnostic challenges due to phenocopies: Lessons from Multiple Endocrine Neoplasia type1 (MEN1). Human Mutation, 31(1). Abstract.
Turner CLS, Mackay DM, Callaway JLA, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, et al (2010). Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. EUROPEAN JOURNAL OF HUMAN GENETICS, 18(6), 648-655. Author URL.
Offiah A, Alman B, Cornier AS, Giampietro PF, Tassy O, Wade A, Turnpenny PD (2010). Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae. American Journal of Medical Genetics, Part A, 152(6), 1357-1371. Abstract.
Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL (2010). Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. European Journal of Human Genetics, 18(6), 674-679. Abstract.
Hastings R, Harding D, Donaldson A, Liebling R, Hayes A, Kraus A, Joss S, Narayanaswamy S, Turnpenny P, Smithson S, et al (2009). Mardini-Nyhan Association [Lung Agenesis, Congenital Heart, and Thumb Anomalies]: Three New Cases and Possible Recurrence in a Sib-Is There a Distinct Recessive Syndrome?. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A(12), 2838-2842. Author URL.
Dean JCS, Robertson Z, Reid V, Wang Q, Hailey H, Moore S, Rasalam AD, Turnpenny P, Lloyd D, Shaw D, et al (2008). A high frequency of the <i>MTHFR</i> 677C>T polymorphism in Scottish women with epilepsy:: Possible role in pathogenesis. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 17(3), 269-275. Author URL.
Croft MS, Turnpenny PD (2008). Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype. Clinical Dysmorphology, 17(3), 189-191.
Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, et al (2008). Molecular diagnosis of vertebral segmentation disorders in humans. Expert Opinion on Medical Diagnostics, 2(10), 1107-1121. Abstract.
Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet J-F, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, et al (2008). Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet, 82(6), 1334-1341. Abstract. Author URL.
Pallotta R, Saponari A, Domizio S, Amato A, Lelli-Chiesa P, Turnpenny PD (2007). A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance. Clinical Dysmorphology, 16(3), 157-161. Abstract.
Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquié O, Kusumi K, Dunwoodie S (2007). Abnormal vertebral segmentation and the notch signaling pathway in man. Developmental Dynamics, 236(6), 1456-1474. Abstract.
Robert MLP, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD (2007). Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. Clinical Dysmorphology, 16(4), 241-246. Abstract.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, et al (2007). An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet, 80(1), 140-151. Abstract. Author URL.
Sparrow DB, Chapman G, Turnpenny PD, Dunwoodie SL (2007). Disruption of the somitic molecular clock causes abnormal vertebral segmentation. Birth Defects Research Part C - Embryo Today: Reviews, 81(2), 93-110. Abstract.
Dean J, Robertson Z, Reid V, Wang QD, Hailey H, Moore S, Rasalam AD, Turnpenny P, Lloyd D, Cardy A, et al (2007). Fetal anticonvulsant syndromes and polymorphisms in <i>MTHFR</i>, <i>MTR</i>, and <i>MTRR</i>. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A(19), 2303-2311. Author URL.
Kusumi K, Turnpenny PD (2007). Formation Errors of the Vertebral Column. Journal of Bone and Joint Surgery, 89, 64-71.
Simpson ARH, Gibbon CEA, Quinn AG, Turnpenny PD (2007). Infantile high myopia in Bohring-Opitz syndrome. Journal of AAPOS, 11(5), 524-525. Abstract.
Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, et al (2006). Erratum: Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome (Human Molecular Genetics (2006) vol. 15 (1413-1422) (doi:10.1093/hmg/dd1064). Human Molecular Genetics, 15(12).
Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL, et al (2006). Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet, 78(1), 28-37. Abstract. Author URL.
Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, et al (2006). Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Human Molecular Genetics, 15(9), 1413-1422. Abstract.
Spyer G, Ellard S, Turnpenny PD, Hattersley AT, Vaidya B (2006). Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management. Thyroid, 16(6), 605-608. Abstract. Author URL.
Rasalam AD, Hailey H, Williams JHG, Moore SJ, Turnpenny PD, Lloyd DJ, Dean JCS (2005). Characteristics of fetal anticonvulsant syndrome associated autistic disorder. Developmental Medicine and Child Neurology, 47(8), 551-555. Abstract.
Erol B, Tracy MR, Dormans JP, Zackai EH, Maisenbacher MK, O'Brien ML, Turnpenny PD, Kusumi K (2004). Congenital scoliosis and vertebral malformations: Characterization of segmental defects for genetic analysis. Journal of Pediatric Orthopaedics, 24(6), 674-682. Abstract.
Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD (2004). Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet, 74(6), 1249-1254. Abstract. Author URL.
Irving M, Hanson H, Turnpenny P, Brewer C, Ogilvie CM, Davies A, Berg J (2003). Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? a report of 15 de novo and familial cases. Am J Med Genet A, 123A(2), 153-163. Abstract. Author URL.
Whittock NV, Turnpenny PD, Tuerlings J, Ellard S (2003). Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. Prenat Diagn, 23(7), 575-579. Abstract. Author URL.
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S (2003). Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet, 40(5), 333-339. Abstract. Author URL.
Turnpenny P, Smith R (2003). Of eponyms, acronyms and. orthonyms. NATURE REVIEWS GENETICS, 4(2), 152-156. Author URL.
Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilsons J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, et al (2002). HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genetics, 32(4), 676-680. Abstract.
Dean JCS, Hailey H, Moore SJ, Lloyd DJ, Turnpenny PD, Little J (2002). Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth. JOURNAL OF MEDICAL GENETICS, 39(4), 251-259. Author URL.
Glover SJ, Quinn AG, Barter P, Hart J, Moore SJ, Dean JCS, Turnpenny PD (2002). Ophthalmic findings in fetal anticonvulsant syndrome(s). Ophthalmology, 109(5), 942-947. Abstract.
Moore SJ, Turnpenny P, Quinn A, Glover S, Lloyd DJ, Montgomery T, Dean JCS (2001). A Clinical Study of 57 Children with Fetal Anticonvulsant Syndromes. Obstetrical & Gynecological Survey, 56(4), 205-207.
Turnpenny PD, Pigott RW (2001). Deletion 22q11 syndrome: Acknowledging a lost eponym as we say farewell to an acronym [11]. Journal of Medical Genetics, 38(4), 271-272.
Moore SJ, Turnpenny P, Quinn A, Glover S, Lloyd DJ, Montgomery T, Dean JCS (2000). A clinical study of 57 children with fetal anticonvulsant syndromes. Journal of Medical Genetics, 37(7), 489-497. Abstract.
Dean JCS, Moore SJ, Turnpenny PD (2000). Developing diagnostic criteria for the fetal anticonvulsant syndromes. Seizure, 9(3), 233-234. Abstract.
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD, et al (2000). Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet, 24(4), 438-441. Abstract. Author URL.
Turnpenny PD, Hole R (2000). The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600. Journal of Medical Genetics, 37(4), 314-315.
Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S (1999). A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet, 65(1), 175-182. Abstract. Author URL.
Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, et al (1999). Delineation of two distinct 6p deletion syndromes. Hum Genet, 104(1), 64-72. Abstract. Author URL.
Dean JCS, Moore SJ, Osborne A, Howe J, Turnpenny PD (1999). Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene. CLINICAL GENETICS, 56(3), 216-220. Author URL.
Williams MM, Tyfield LA, Jardine P, Lunt PW, Stevens DL, Turnpenny PD (1999). HMSA and HNPP: Laboratory service provision in the South West of England - Two years' experience. Annals of the New York Academy of Sciences, 883, 500-503.
Warwicker P, Goodship THJ, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA (1998). Genetic studies into inherited and sporadic hemolytic uremic syndrome. KIDNEY INTERNATIONAL, 53(4), 836-844. Author URL.
Shah D, Jones R, Porter H, Turnpenny P (1997). Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS, 70(2), 171-173. Author URL.
Turnpenny PD, De Silva DC, Gregory DW, Gray ES, Dean JCS (1995). A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?. Clinical Dysmorphology, 4(4), 324-333. Abstract.
Kidd A, Turnpenny P, Kelly K, Clark C, Church W, Hutchinson C, Dean JC, Haites NE (1995). Ascertainment of myotonic dystrophy through cataract by selective screening. J Med Genet, 32(7), 519-523. Abstract. Author URL.
de Silva D, Gilbert F, Needham G, Deans H, Turnpenny P, Haites N (1995). Identification of women at high genetic risk of breast cancer through the National Health Service Breast Screening Programme (NHSBSP). J Med Genet, 32(11), 862-866. Abstract. Author URL.
Turnpenny P, Clark C, Kelly K (1994). Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet, 31(4), 300-305. Abstract. Author URL.
Turnpenny PD, Nimmo A (1993). Fractured clavicle of the newborn in a population with a high prevalence of grand-multiparity: Analysis of 78 consecutive cases. Obstetrical and Gynecological Survey, 48(10), 660-661.
Turnpenny PD, Nimmo A (1993). Fractured clavicle of the newborn in a population with a high prevalence of grand-multiparity: analysis of 78 consecutive cases. British Journal of Obstetrics and Gynaecology, 100(4), 338-341. Abstract.
Turnpenny PD, Davidson R, Stockdale EJN, Tolmie JL, Sutton AM (1993). Severe prenatal infantile cortical hyperostosis (Caffey's disease). Clinical Dysmorphology, 2(1), 81-86. Abstract.
Turnpenny PD, Thwaites RJ (1992). Brief clinical report: Dwarfism, rhizomelic limb shortness, and abnormal face: New short stature syndrome sharing some manifestations with Robinow syndrome. American Journal of Medical Genetics, 42(5), 724-727. Abstract.
Turnpenny PD, Dean JCS, Auchterlonie IA, Johnston AW (1992). Cardiofaciocutaneous syndrome with new ectodermal manifestations. Journal of Medical Genetics, 29(6), 428-429. Abstract.
Turnpenny PD, Kasznica J, Carlson JA, Coppedge D (1992). Ectrodactyly with multiple congenital abnormalities [6]. American Journal of Medical Genetics, 44(2).
Turnpenny PD, Johnston AW, Dean JC, Haites NE, Couzin DA, Stephen GS (1992). Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity. Clinical dysmorphology, 1(2), 103-109. Abstract.
Turnpenny PD, Stahl S, Bowers D, Bingham P (1992). Peripheral ischaemia and gangrene presenting at birth. European Journal of Pediatrics, 151(8), 550-554. Abstract.
TURNPENNY PD, GUNASEGARAN R, SMITH NC (1992). Recurrent miscarriage, cystic hygroma and incontinentia pigmenti. BJOG: an International Journal of Obstetrics & Gynaecology, 99(11), 920-930.
Turnpenny PD, Dean JCS, Duffty P, Reid JA, Carter P (1992). Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects. Journal of Medical Genetics, 29(9), 659-662.
Turnpenny PD, Thwaites RJ, Boulos FN (1991). Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. Journal of Medical Genetics, 28(1), 27-33. Abstract.
Turnpenny PD, Dakwar RA, Boulos FN (1990). Kyphomelic dysplasia: the first 10 cases. Journal of Medical Genetics, 27(4), 269-272. Abstract.
Turnpenny PD, Hakim MM, Thwaites RJ, Nash RM, Allen HE, Zacharian Y, Chazantchuk T, Weiner E (1990). Oligohydramnios sequence in a live‐born infant following chorionic villus sampling. Prenatal Diagnosis, 10(10), 675-676. Abstract.
Chapters
Turnpenny PD, Kusumi, K, Dunwoodie S (2023). DLL3 , MESP2 , and LFNG and Spondylocostal Dysostosis. In (Ed) Inborn Errors of Development, Oxford University Press (OUP), 560-572.
Turnpenny PD (2018). Congenital scoliosis and segmentation defects of the vertebrae in the genetic clinic. In (Ed) The Genetics and Development of Scoliosis: Second Edition, 63-88.
Turnpenny PD, Kusumi K, Dunwoodie SL (2016). DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis. In (Ed) Epstein's Inborn Errors of Development, Oxford University Press (OUP), 559-570.
Turnpenny PD (2015). Classification and etiologic dissection of vertebral segmentation anomalies. In (Ed) Molecular Genetics of Pediatric Orthopaedic Disorders, 105-130. Abstract.
Turnpenny PD (2014). Syndromes and Diseases Associated with the Notch Signalling Pathway. In (Ed) Encyclopedia of Life Sciences, Wiley.
Turnpenny PD (2010). Abnormal vertebral segmentation (or segmentation defects of the vertebrae) and the spondylocostal dysostoses. In (Ed) The Genetics and Development of Scoliosis, 81-108. Abstract.
Turnpenny PD, Ellard S (2007). CHAPTER 1 the history and impact of genetics in medicine. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 3-11.
Turnpenny PD, Ellard S (2007). CHAPTER 10 Hemoglobin and the hemoglobinopathies. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 147-157.
Turnpenny PD, Ellard S (2007). CHAPTER 11 Biochemical genetics. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 158-176.
Turnpenny PD, Ellard S (2007). CHAPTER 12 Pharmacogenetics. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 177-183.
Turnpenny PD, Ellard S (2007). CHAPTER 13 Immunogenetics. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 184-195.
Turnpenny PD, Ellard S (2007). CHAPTER 14 Cancer genetics. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 196-218.
Turnpenny PD, Ellard S (2007). CHAPTER 15 Genetic factors in common diseases. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 219-233.
Turnpenny PD, Ellard S (2007). CHAPTER 16 Congenital abnormalities and dysmorphic syndromes. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 237-252.
Turnpenny PD, Ellard S (2007). CHAPTER 17 Genetic counseling. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 253-260.
Turnpenny PD, Ellard S (2007). CHAPTER 18 Chromosome disorders. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 261-281.
Turnpenny PD, Ellard S (2007). CHAPTER 19 Single-gene disorders. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 282-302.
Turnpenny PD, Ellard S (2007). CHAPTER 2 the cellular and molecular basis of inheritance. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 12-29.
Turnpenny PD, Ellard S (2007). CHAPTER 20 Screening for genetic disease. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 303-314.
Turnpenny PD, Ellard S (2007). CHAPTER 21 Prenatal testing and reproductive genetics. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 315-329.
Turnpenny PD, Ellard S (2007). CHAPTER 22 Risk calculation. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 330-339.
Turnpenny PD, Ellard S (2007). CHAPTER 23 Treatment of genetic disease. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 340-353.
Turnpenny PD, Ellard S (2007). CHAPTER 24 Ethical and legal issues in medical genetics. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 354-363.
Turnpenny PD, Ellard S (2007). CHAPTER 3 Chromosomes and cell division. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 30-54.
Turnpenny PD, Ellard S (2007). CHAPTER 4 DNA technology and applications. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 55-72.
Turnpenny PD, Ellard S (2007). CHAPTER 5 Mapping and identifying genes for monogenic disorders. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 73-81.
Turnpenny PD, Ellard S (2007). CHAPTER 6 Developmental genetics. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 82-102.
Turnpenny PD, Ellard S (2007). CHAPTER 7 Patterns of inheritance. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 103-121.
Turnpenny PD, Ellard S (2007). CHAPTER 8 Mathematical and population genetics. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 122-135.
Turnpenny PD, Ellard S (2007). CHAPTER 9 Polygenic and multifactorial inheritance. In (Ed) Emery's Elements of Medical Genetics, Elsevier, 136-143.
Turnpenny PD, Ellard S (2007). PREFACE. In (Ed) Emery's Elements of Medical Genetics, Elsevier.
Turnpenny P, Bryant J (2002). Human Genetics and Genetic Enhancement. In (Ed) Bioethics for Scientists, Wiley, 241-264.
Conferences
Martin HC, Jones WD, Stephenson J, Handsaker J, McIntyre R, Bruntraeger M, Gallone G, McRae J, Prigmore E, Short P, et al (2019). Quantifying the contribution of recessive coding variation to developmental disorders. Author URL.
Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, et al (2018). Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas. Abstract.
Fratter C, Raman P, Alston C, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, et al (2011). Dominant and recessive <i>RRM2B</i> mutations cause familial PEO and multiple mtDNA deletions in muscle. Author URL.
Kusumi K, Turnpenny PD (2007). Formation errors of the vertebral column.
