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University of Exeter Medical School

Dr Emma Baple

Dr Emma Baple

Professor of Genomic Medicine

 01392 405749

 RILD Building 04.07


University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK


Emma is Professor of Genomic Medicine. Emma leads the Rare Disease Research group at the University of Exeter College of Medicine and Health, alongside Professor Andrew Crosby with whom she works closely. Her principle area of interest is in the use of new genetic technologies to identify the cause of rare genetic disorders and the translation of that knowledge into improved clinical diagnostic testing and treatment strategies. Emma’s principal area of research involves the investigation of the molecular causes of inherited disorders within a community setting, stemming from the identification of the causal disease gene through to more detailed studies of the biological pathway and disease mechanism responsible.

Emma is also the Medical Director of the NHS South West Genomic Laboratory Hub (a partnership between the Exeter and Bristol Genomic Laboratories) and the Deputy Clinical Director of the South West Genomic Medicine Service Alliance. Between 2015-2020 Emma was Clinical Lead for Rare Disease Validation and Feedback at Genomics England.


  • BSc Hons (Human Genetics, UCL, London)
  • MBBS (St Bartholomew’s and the Royal London School of Medicine and Dentistry)
  • MRCPCH (Royal College of Paediatrics and Child Health)
  • PhD (University of Exeter Medical School)
  • Specialist register (CCT) Clinical Genetics


Emma attended medical school at St Bartholomew’s and the Royal London School of Medicine and Dentistry. While at medical school, she completed an intercalated BSc in Human Genetics at University College London and the Institute of Child Health before training in Paediatrics in East London and subsequently Clinical Genetics at St George’s Hospital, Great Ormond Street Hospital for Children and in Exeter. During her training in Clinical Genetics, she obtained an MRC Clinical Research Training Fellowship and studied for a PhD in Molecular and Clinical Genetics at the University of Exeter.


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Research interests

Over the last 6 years Emma's research has focussed on the investigation of the genetic and molecular basis of inherited conditions. She is recognised internationally for her research to define the molecular causes of neurodevelopmental and degenerative disorders. Important examples include: the delineation of a new autosomal recessive tubulinopathy associated with PRUNE mutation and the identification of a hypomorphic mutation of PCNA that underlies a novel autosomal recessive DNA repair disorder. These genetic discoveries have provided important insights into new disease mechanisms.

Many of the patients and families involved in this research form part of long-running community clinical-genetic research programmes, in particular amongst the Amish populations of the USA undertaken in close collaboration with Professor Andrew Crosby. The UK research team undertake these studies in close partnership with local clinicians, special education teachers and other healthcare workers who provide care and support for Amish and other Anabaptist families locally. As well as empowering diagnostic services in the region, their genetic studies provide the scientific insight important for the development and investigation of new therapeutic approaches for conditions which occur in the community.

If you would like learn more about this work, then please register for our Medical Research Foundation funded FutureLearn Massive Open Online Course, Genomic Medicine and Research: A Community Approach


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Journal articles

Alakbarzade V, Iype T, Chioza BA, Harlalka GV, Singh R, Hardy H, Sreekantan-Nair A, Proukakis C, Kathryn J P, Clark LN, et al (In Press). Copy number variation of LINGO1 in familial dystonic tremor. Neurology Genetics
Ullah MI, Abdul N, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby A, Chioza BA (In Press). Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. BMC Medical Genetics
Leslie J, Rawlins L, Chioza B, Olubodun O, Salter C, Fasham J, Jones H, Cross H, Lam S, Harlalka G, et al (In Press). MNS1 variant associated with situs inversus and male infertility. European Journal of Human Genetics, 1-18. Abstract.
McInnes-Dean H, Mellis R, Daniel M, Walton H, Baple EL, Bertoli M, Fisher J, Gajewska-Knapik K, Holder-Espinasse M, Lafarge C, et al (2024). 'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service. Prenat Diagn, 44(4), 465-479. Abstract.  Author URL.
Sala-Gaston J, Perez-Villegas EM, Armengol JA, Rawlins LE, Baple EL, Crosby AH, Ventura F, Rosa JL (2024). Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder. CELL DEATH DISCOVERY, 10(1).  Author URL.
Robinson HK, Stals K, Hill S, Parrish A, Baple EL (2024). Rapid genome sequencing for infantile-onset epilepsy within a national health-care setting. Lancet Neurol, 23(2), 139-140.  Author URL.
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.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, et al (2023). Expanding SPTAN1 monoallelic variant associated disorders: from epileptic encephalopathy to pure spastic paraplegia and ataxia. Genetics in Medicine, 25(1), 76-89. Abstract.
Kammermeier J, Lamb CA, Jones KDJ, Anderson CA, Baple EL, Bolton C, Braggins H, Coulter TI, Gilmour KC, Gregory V, et al (2023). Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition. Lancet Gastroenterol Hepatol, 8(3), 271-286. Abstract.  Author URL.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH, Andersson MHL, Bupp C, Cambridge EL, et al (2023). Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain, 146(11), 4766-4783. Abstract.  Author URL.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, MacPherson H, Di Bella D, Sarto E, Stevanovski I, et al (2023). Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis. Brain, 146(12), 5060-5069. Abstract.
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.
Marwan M, Dawood M, Ullah M, Shah IU, Khan N, Hassan MT, Karam M, Rawlins LE, Baple EL, Crosby AH, et al (2023). Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families. BMC Ophthalmol, 23(1). Abstract.  Author URL.
Moreno-Ruiz N, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR, Brittain H, Caulfield MJ, et al (2022). Assessing the digenic model in rare disorders using population sequencing data. European Journal of Human Genetics, 30(12), 1439-1443. Abstract.
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.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, et al (2022). Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities. Genet Med, 24(11), 2249-2261. Abstract.  Author URL.
Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie J, Saint-Dic D, Khan V, Hincapie AM, Day JO, et al (2022). Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice. PLoS Genet, 18(3). Abstract.  Author URL.
Ma Y, Wang X, Shoshany N, Jiao X, Lee A, Ku G, Baple EL, Fasham J, Nadeem R, Naeem MA, et al (2022). CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated with a Single Founder Mutation 2,000-5,000 Years Ago. Front Genet, 13 Abstract.  Author URL.
Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle-Biassette H, Marchal C, Jennesson M, an I, et al (2022). Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy. Annals of Neurology, 91(1), 101-116. Abstract.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, et al (2022). Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med, 24(3), 631-644. Abstract.  Author URL.
Lin S, Sanchez-Bretano A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, et al (2022). Evidence that the Ser192Tyr/Arg402Gln in <i>cis</i> Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ GENOMIC MEDICINE, 7(1).  Author URL.
Huang M, Gibson JT, Shenelli Croos Dabrera M, Shukla K, Rothe H, Hilbert P, Deltas C, Storey H, Lipska-Ziętkiewicz BS, Chan MMY, et al (2022). Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome. Scientific Reports, 12(1). Abstract.
Sala-Gaston J, Pedrazza L, Ramirez J, Martinez-Martinez A, Rawlins LE, Baple EL, Crosby AH, Mayor U, Ventura F, Rosa JL, et al (2022). HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress. Cell Mol Life Sci, 79(11). Abstract.  Author URL.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, et al (2022). Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genetics in Medicine, 24(10), 2079-2090. Abstract.
Ismail V, Zachariassen LG, Godwin A, Sahakian M, Ellard S, Stals KL, Baple E, Brown KT, Foulds N, Wheway G, et al (2022). Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: an emerging neurodevelopmental syndrome. American Journal of Human Genetics, 109(7), 1217-1241. Abstract.
Owen N, Toms M, Young RM, Eintracht J, Sarkar H, Brooks BP, Moosajee M, Ambrose JC, Baple EL, Bleda M, et al (2022). Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis. Genetics in Medicine, 24(5), 1073-1084. Abstract.
Hill M, Ellard S, Fisher J, Fulop N, Knight M, Kroese M, Ledger J, Leeson-Beevers K, McEwan A, McMullan D, et al (2022). Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service. NIHR Open Res, 2 Abstract.  Author URL.
Gibson JT, Sadeghi-Alavijeh O, Gale DP, Rothe H, Savige J, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F, et al (2022). Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome. Scientific Reports, 12(1). Abstract.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, et al (2022). Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. Genet Med, 24(3), 552-563. Abstract.  Author URL.
Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, et al (2022). Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK). Genet Med, 24(9), 1867-1877. Abstract.  Author URL.
Tabara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, et al (2022). TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia (vol 145, pg 3095, 2022). BRAIN, 145(10), E103-E103.  Author URL.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, et al (2022). TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain, 145(9), 3095-3107. Abstract.  Author URL.
Best S, Yu J, Lord J, Roche M, Watson CM, Bevers RPJ, Stuckey A, Madhusudhan S, Jewell R, Sisodiya SM, et al (2022). Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59(12), 1151-1164.
Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, et al (2022). Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. npj Genomic Medicine, 7(1). Abstract.
(2021). 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine, 385(20), 1868-1880.
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, et al (2021). A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. PLOS Genetics, 17(9), e1009803-e1009803. Abstract.
Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, et al (2021). A recurrent rare intronic variant in <scp><i>CAPN3</i></scp> alters <scp>mRNA</scp> splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees. American Journal of Medical Genetics Part A, 188(2), 498-508. Abstract.
Zou X, Koh GCC, Nanda AS, Degasperi A, Urgo K, Roumeliotis TI, Agu CA, Badja C, Momen S, Young J, et al (2021). A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage. Nature Cancer, 2(6), 643-657. Abstract.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, et al (2021). An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain, 144(2), 584-600. Abstract.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, et al (2021). Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain, 144(12), 3597-3610. 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.
Rickman OJ, Salter CG, Gunning AC, Fasham J, Voutsina N, Leslie JS, McGavin L, Cross HE, Posey JE, Akdemir ZC, et al (2021). Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord, 82, 84-86. 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.
Parry DA, Martin CA, Greene P, Marsh JA, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, et al (2021). Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. Genetics in Medicine, 23(2), 408-414. Abstract.
Mehmood S, Harlalka GV, Dad R, Chioza BA, Ullah MI, Ahmad A, Crosby AH, Baple EL, Hassan MJ (2021). In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani family (vol 16C, 100445, 2019). GENE REPORTS, 24  Author URL.
Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Martins Custodio H, Jones WD, Balestrini S, Sisodiya SM, Ambrose JC, Arumugam P, et al (2021). Late diagnoses of Dravet syndrome: How many individuals are we missing?. Epilepsia Open, 6(4), 770-776. Abstract.
Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, et al (2021). New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation, 42(2), 164-176. Abstract.
Dawood M, Lin S, Din TU, Shah IU, Khan N, Jan A, Marwan M, Sultan K, Nowshid M, Tahir R, et al (2021). Novel mutations in <i>PDE6A</i> and <i>CDHR1</i> cause retinitis pigmentosa in Pakistani families. INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 14(12), 1843-1851.  Author URL.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, et al (2021). Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron, 109(3), 448-460.e4. Abstract.
Jones CL, Degasperi A, Grandi V, Amarante TD, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, et al (2021). Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma. Scientific Reports, 11(1). Abstract.
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.
Borah K, Rickman OJ, Voutsina N, Ampong I, Gao D, Baple EL, Dias IH, Crosby AH, Griffiths HR (2020). A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism. Redox Biol, 36 Abstract.  Author URL.
Gunning AC, Fryer V, Fasham J, Crosby AH, Ellard S, Baple EL, Wright CF (2020). Assessing performance of pathogenicity predictors using clinically relevant variant datasets. Journal of Medical Genetics, 58(8), 547-555. Abstract.
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA, Ambrose JC, Baple EL, et al (2020). Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (Nature Communications, (2020), 11, 1, (1740), 10.1038/s41467-020-15336-3). Nature Communications, 11(1). Abstract.
Wenger O, Brown M, Smith B, Chowdhury D, Crosby AH, Baple EL, Yoder M, Laxen W, Tortorelli S, Strauss KA, et al (2020). Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A &gt; G (p.Asn536Asp) variant propionic acidemia. Molecular Genetics and Metabolism, 131(3), 316-324. Abstract.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, et al (2020). DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine, 22(12), 2041-2051. Abstract.
Borah K, Rickman OJ, Voutsina N, Baple EL, Dias IH, Crosby AH, Griffiths HR (2020). Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics. Data in Brief, 33 Abstract.
Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, et al (2020). Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. J Clin Invest, 130(3), 1506-1512. Abstract.  Author URL.
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.
Freeman TM, Wang D, Harris J, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR, et al (2020). Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. GENOME RESEARCH, 30(3), 415-426.  Author URL.
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, et al (2020). Human and mouse essentiality screens as a resource for disease gene discovery. Nature Communications, 11(1). Abstract.
Cif L, Demailly D, Lin J-P, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, et al (2020). KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain, 143(11), 3242-3261. Abstract.  Author URL.
Rickman OJ, Baple EL, Crosby AH (2020). Lipid metabolic pathways converge in motor neuron degenerative diseases. Brain, 143(4), 1073-1087. Abstract.  Author URL.
Wakeling MN, Laver TW, Colclough K, Parish A, Ellard S, Baple EL (2020). Misannotation of multiple-nucleotide variants risks misdiagnosis. Wellcome Open Research, 4, 145-145. Abstract.
Pleguezuelos-Manzano C, Puschhof J, Rosendahl Huber A, van Hoeck A, Wood HM, Nomburg J, Gurjao C, Manders F, Dalmasso G, Stege PB, et al (2020). Mutational signature in colorectal cancer caused by genotoxic pks <sup>+</sup> E. coli. Nature, 580(7802), 269-273. Abstract.
Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S, Ibáñez K, Sullivan R, et al (2020). Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of Clinical and Translational Neurology, 7(9), 1716-1725. Abstract.
Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL, et al (2020). No association between SCN9A and monogenic human epilepsy disorders. PLOS Genetics, 16(11), e1009161-e1009161. Abstract.
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA, Ambrose JC, Baple EL, et al (2020). Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. Nature Communications, 11(1). Abstract.
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, et al (2020). Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet, 106(2), 272-279. Abstract.  Author URL.
Tovy A, Reyes JM, Gundry MC, Brunetti L, Lee-Six H, Petljak M, Park HJ, Guzman AG, Rosas C, Jeffries AR, et al (2020). Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual is Associated with Conserved Epigenetic Erosion. Cell Stem Cell, 27(2), 326-335.e4. Abstract.  Author URL.
Mansour S, Baple E, Hall CM (2019). A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE). Journal of Hand Surgery: European Volume, 44(1), 96-108. Abstract.
Rautengarten C, Quarrell OW, Stals K, Caswell RC, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, et al (2019). A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. Hum Mol Genet, 28(21), 3543-3551. Abstract.  Author URL.
O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, et al (2019). A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. Sci Rep, 9(1). Abstract.  Author URL.
Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, et al (2019). An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet, 27(4), 657-662. Abstract.  Author URL.
Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, et al (2019). BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. Ann Hum Genet, 83(6), 477-482. Abstract.  Author URL.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, et al (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med, 21(3), 663-675. Abstract.  Author URL.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, et al (2019). Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A, 179(8), 1665-1671.  Author URL.
Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, et al (2019). Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. Genome Res, 29(7), 1057-1066. Abstract.  Author URL.
Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, et al (2019). Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. BMC Med Genet, 20(1). Abstract.  Author URL.
Mehmood S, Harlalka GV, Dad R, Chioza BA, Ullah MI, Ahmad A, Crosby AH, Baple EL, Hassan MJ (2019). In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani family. Gene Reports, 16 Abstract.
Wakeling MN, Laver TW, Colclough K, Parish A, Ellard S, Baple EL (2019). Misannotation of multiple-nucleotide variants risks misdiagnosis. Wellcome Open Research, 4, 145-145. Abstract.
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte J-F, Ellaway C, Procopis P, et al (2019). NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain, 142(1), 50-58. Abstract.  Author URL.
Akbar A, Prince C, Payne C, Fasham J, Ahmad W, Baple EL, Crosby AH, Harlalka GV, Gul A (2019). Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families. BMC Med Genet, 20(1). Abstract.  Author URL.
Wheway G, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR, Caulfield MJ, Chan GC, Craig CEH, et al (2019). Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project (vol 10, 127, 2019). FRONTIERS IN GENETICS, 10  Author URL.
Wheway G, Mitchison HM, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR, Caulfield MJ, Chan GC, et al (2019). Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project. Frontiers in Genetics, 10(MAR). Abstract.
Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E, et al (2019). PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet, 51(11), 1560-1565.  Author URL.
Hong Y, Nanthapisal S, Omoyinmi E, Olbrich P, Neth O, Speckmann C, Lucena JM, Gilmour K, Worth A, Klein N, et al (2019). Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2. FRONTIERS IN IMMUNOLOGY, 10  Author URL.
Shakil M, Harlalka GV, Ali S, Lin S, D'Atri I, Hussain S, Nasir A, Shahzad MA, Ullah MI, Self JE, et al (2019). Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. Eye (Lond), 33(8), 1339-1346. Abstract.  Author URL.
Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, et al (2018). 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. European Journal of Human Genetics, 26(1), 85-93. 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.
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan C-C, Nakaya N, Ma Z, Ma Y, Cai X, et al (2018). Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet, 14(8). Abstract.  Author URL.
Arshad MW, Harlalka GV, Lin S, D'Atri I, Mehmood S, Shakil M, Hassan MJ, Chioza BA, Self JE, Ennis S, et al (2018). Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families. Meta Gene, 17, 48-55. Abstract.
Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S, et al (2018). Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. BMC Med Genet, 19(1). Abstract.  Author URL.
Thomas N, Glod J, Derse-Anthony C, Baple EL, Osborne N, Sturley R, Vaidya B, Newbold K, Brooke A (2018). Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B. Clin Endocrinol (Oxf), 88(5), 754-756.  Author URL.
Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, Halai D, Baple E, Craig C, Hamblin A, et al (2018). The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ, 361  Author URL.
Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, et al (2018). Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. Neurol Genet, 4(2). Abstract.  Author URL.
Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, et al (2017). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract.  Author URL.
van den Bruck R, Weil PP, Ziegenhals T, Schreiner P, Juranek S, Gödde D, Vogel S, Schuster F, Orth V, Dörner J, et al (2017). Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016. Mol Cell Pediatr, 4(Suppl 1).  Author URL.
Mathiowetz AJ, Baple E, Russo AJ, Coulter AM, Carrano E, Brown JD, Jinks RN, Crosby AH, Campellone KG (2017). An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. Mol Biol Cell, 28(19), 2492-2507. Abstract.  Author URL.
Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Martin AR, Smith KR, Ali M, et al (2017). Association of steroid 5α-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy. JAMA Ophthalmology, 135(4), 339-347. Abstract.
Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, et al (2017). Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain, 140(11), 2838-2850. Abstract.  Author URL.
Muggenthaler MMA, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, et al (2017). Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet, 13(1). Abstract.  Author URL.
Wilson RHC, Biasutto AJ, Wang L, Fischer R, Baple EL, Crosby AH, Mancini EJ, Green CM (2017). PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions. DNA Repair (Amst), 50, 22-35. Abstract.  Author URL.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, et al (2017). PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain, 140(4), 940-952. Abstract.  Author URL.
Baple EL, Houlden H, Zollo M, Crosby AH (2017). Reply: PRUNE1: a disease-causing gene for secondary microcephaly. Brain, 140(10).  Author URL.
Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM (2017). Single-base substitutions in the CHM promoter as a cause of choroideremia. Hum Mutat, 38(6), 704-715. Abstract.  Author URL.
Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi MY, Chioza BA, Zamaninejad S, Kalantar SM, Nori-Shadkam M, Ghadimi H, Baple EL, Crosby AH, et al (2016). A novel mutation in the OFD1 gene in a family with oral-facial-digital syndrome type 1: a case report. Iranian Journal of Public Health, 45(10), 1359-1366. Abstract.
Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, et al (2016). Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. Eur J Hum Genet, 24(11), 1627-1629. Abstract.  Author URL.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, et al (2016). Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat, 37(11), 1157-1161. Abstract.  Author URL.
Cubillos-Rojas M, Schneider T, Hadjebi O, Pedrazza L, de Oliveira JR, Langa F, Guénet J-L, Duran J, de Anta JM, Alcántara S, et al (2016). The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination. Oncotarget, 7(35), 56083-56106. Abstract.  Author URL.
Krøigård AB, Jackson AP, Bicknell LS, Baple E, Brusgaard K, Hansen LK, Ousager LB (2016). Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clinical Dysmorphology, 25(2), 68-72.
Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, et al (2015). A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. BMC Med Genet, 16 Abstract.  Author URL.
Alakbarzade V, Hameed A, Quek DQY, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, et al (2015). A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nature Genetics, 47(7), 814-817. Abstract.
Alakbarzade V, Hameed A, Quek DQY, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, et al (2015). A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet, 47(7), 814-817. Abstract.  Author URL.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, et al (2015). Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology, 84(17), 1745-1750. Abstract.  Author URL.
Docherty LE, Rezwan FI, Poole RL, Turner CLS, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, et al (2015). Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. Nature Communications, 6 Abstract.
Jinks RN, Puffenberger EG, Baple EL, Harding B, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, et al (2015). Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain Abstract.
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, et al (2014). Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest, 124(7), 3137-3146. Abstract.  Author URL.
Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, et al (2014). Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Am J Hum Genet, 94(1), 87-94. Abstract.  Author URL.
Green CM, Baple EL, Crosby AH (2014). PCNA mutation affects DNA repair not replication. Cell Cycle, 13(20), 3157-3158.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, et al (2013). Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet, 50(2), 65-73. Abstract.  Author URL.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross HE, Sreekantan-Nair A, Priestman C, Royle L, Kozak RP, et al (2013). Mutations in B4GALNT1 (GM2 Synthase) underlie a new disorder of ganglioside biosynthesis. Brain, 136(12), 3618-3624. Abstract.  Author URL.
Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, et al (2013). Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. American Journal of Medical Genetics, Part A
Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, et al (2013). Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. American Journal of Medical Genetics, Part A, 161(9), 2174-2182. Abstract.
Baple EL, Poole RL, Mansour S, Willoughby C, Temple IK, Docherty LE, Taylor R, Mackay DJG (2011). An atypical case of hypomethylation at multiple imprinted loci. Eur J Hum Genet, 19(3), 360-362. Abstract.  Author URL.
Baple E, Palmer R, Hennekam RCM (2010). A microdeletion at 12q24.31 can mimic Beckwith-Wiedemann syndrome neonatally. Molecular Syndromology, 1(1), 42-45. Abstract.
Poole RL, Baple E, Crolla JA, Temple IK, Mackay DJG (2010). Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting. American Journal of Medical Genetics, Part A, 152(8), 1990-1993. Abstract.
Dürrbach A, Baple E, Preece AF, Charpentier B, Gustafsson K (2007). Virus recognition by specific natural antibodies and complement results in MHC I cross-presentation. European Journal of Immunology, 37(5), 1254-1265. Abstract.


Leslie J, Rawlins LE, Chioza BA, Olusanya OR, Salter CG, Fasham J, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, et al (2022). <i>MNS1</i> gene alterations are associated with situs inversus and male infertility.  Author URL.
Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie JS, Saint-Dic D, Hincapie AM, Harlalka GV, Vancollie VE, et al (2022). Biallelic <i>TRAPPC10</i> variants are associated with a microcephalic TRAPPopathy disorder in humans and mice.  Author URL.
Campellone KG, Baple EL, Russo AJ, Mathiowetz AJ, Crosby AH (2015). An inherited developmental disorder reveals functions for WHAMM and the actin nucleation machinery in autophagy.  Author URL.

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BSc Medical Sciences Final Year Project Supervisor

MSc Genomic Medicine Project Supervisor

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