COLLEGE OF MEDICINE AND HEALTH
Medicine, Nursing and Allied Health Professions

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Emma Baple

 01392 408287

 RILD Building 

 

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

Overview

Research

Publications

Key publications | Publications by category | Publications by year

Publications by category


Journal articles

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 (In Press). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract.  Author URL.  Full text.
Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, et al (In Press). Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn, 38(1), 33-43. Abstract.  Author URL.
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 (In Press). 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.
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 Full text.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, et al (In Press). Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat, 37(11), 1157-1161. Abstract.  Author URL.
Wilson RHC, Biasutto AJ, Wang L, Fischer R, Baple EL, Crosby AH, Mancini EJ, Green CM (In Press). PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions. DNA Repair (Amst), 50, 22-35. Abstract.  Author URL.
Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM (In Press). Single-base substitutions in the CHM promoter as a cause of choroideremia. Hum Mutat, 38(6), 704-715. 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.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, et al (2018). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 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.
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.  Full text.
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.  Full text.
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.  Full text.
Baple EL, Houlden H, Zollo M, Crosby AH (2017). Reply: PRUNE1: a disease-causing gene for secondary microcephaly. Brain, 140(10). 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.
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.  Full text.
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.
Xin B, Jinks RN, Puffenberger EG, Baple EL, Harding B, Fogo AB, Wenger O, 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.  Full text.
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.  Full text.
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.

Conferences

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.

Publications by year


In Press

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 (In Press). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract.  Author URL.  Full text.
Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, et al (In Press). Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn, 38(1), 33-43. Abstract.  Author URL.
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 (In Press). 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.
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 Full text.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, et al (In Press). Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat, 37(11), 1157-1161. Abstract.  Author URL.
Wilson RHC, Biasutto AJ, Wang L, Fischer R, Baple EL, Crosby AH, Mancini EJ, Green CM (In Press). PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions. DNA Repair (Amst), 50, 22-35. Abstract.  Author URL.
Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM (In Press). Single-base substitutions in the CHM promoter as a cause of choroideremia. Hum Mutat, 38(6), 704-715. Abstract.  Author URL.

2018

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.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, et al (2018). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 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.
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.  Full text.

2017

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.  Full text.
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.  Full text.
Baple EL, Houlden H, Zollo M, Crosby AH (2017). Reply: PRUNE1: a disease-causing gene for secondary microcephaly. Brain, 140(10). Author URL.

2016

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.
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.

2015

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.  Full text.
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.
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.
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.
Xin B, Jinks RN, Puffenberger EG, Baple EL, Harding B, Fogo AB, Wenger O, 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.  Full text.

2014

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.

2013

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.  Full text.
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.

2011

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.

2010

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.

2007

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.

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