Dr Julia Baptista

Dr Julia Baptista

Lecturer in Clinical Education

Peninsula Medical School (Faculty of Health)



Julia Baptista is the Programme Lead for the MSc Healthcare Management, Leadership and Innovation and for the MSc in Healthcare Improvement & Patient Safety at the Faculty of Health.

An experienced clinical scientist in genetics and genomics, Julia has a background of working within the NHS diagnostic services for patients with rare genetic diseases where she was a leading scientist providing diagnoses which could inform management and treatment for acutely unwell neonates and their families. Julia's work in the interface between clinical service and research has led to the identification of several novel disease genes and to expanding our understanding of rare diseases allowing families to make more informed decisions about their health.

Julia has extensive experience delivering clinical education to healthcare professionals through her previous roles as an Honorary Lecturer in Genomic Medicine and as the Rare Disease Scientific and Education Lead for Genome Sequencing at the South West Genomic Laboratory Hub between 2019 and 2021. She has a special interest in the role of leadership, innovation and quality assurance in improving health outcomes and delivering patient safety in healthcare.


Royal College of Pathologists Part I exam in Genetics (2018)

NHS Leadership Academy Award in Leadership Foundations (2016)

PhD in Human Genetics, University of Southampton, UK (2008)

BSc (Hons) Microbial Biology and Genetics, University of Lisbon, Portugal (1997-2002)

Professional membership

Association for Clinical Genomic Science

The British Society for Genetic Medicine 

European Society of Human Genetics

Royal College of Pathologists (Diplomate Member)

HCPC Registered Clinical Scientist (CS19885)  

Roles on external bodies

Scientific Advisory Group Member of GenQA-Genomic Quality Assessment

European Society of Human Genetics Board Member (2021-2026)

Editorial Board European Journal of Human Genetics (from 2022)



Key publications

Key publications are highlighted

Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M & Laquerrière A (2022) 'Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation' American Journal of Human Genetics 109, (5) 909-927 , DOI Open access
Broly M, Polevoda BV, Awayda KM, Tong N, Lentini J, Besnard T, Deb W, O’Rourke D, Baptista J & Ellard S (2022) 'THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder' The American Journal of Human Genetics 109, (4) 587-600 , DOI Open access
(2022) 'Erratum to Heterozygous variants in <scp>ZBTB7A</scp> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin' American Journal of Medical Genetics Part A , DOI
Sherlaw-Sturrock C, McDermott H, Baptista J, Hartles-Spencer L & Naik S (2022) 'eP244: Rapid exome sequencing influences acute and long-term management of critically unwell children and their families' Genetics in Medicine 24, (3) S155-S156 , DOI
McDermott H, Garikapati V, Baptista J, Gowda H & Naik S (2022) 'X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing' Clinical Dysmorphology 31, (2) 101-105 , DOI
Pickwick C, Callewaert B, van Dijk F, Harris J, Wakeling E, Hay E, Yeo M, Chakrapani A, Baptista J & Moore S (2021) 'Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings' Clinical Dysmorphology 31, (2) 66-70 , DOI
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 (2021) 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome' Genetics in Medicine 23, (11) 2122-2137 , DOI Open access
May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A & Te Carminho A. Rodrigues MR (2021) 'Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders' Genetics in Medicine 23, (10) 1912-1921 , DOI Open access
Sasaki E, Phelan E, O'Regan M, Kassim AH, Miletin J, McMahon C, O'Sullivan MJ, Baptista J & Lynch SA (2021) '<scp> <i>HK1</i> </scp> haemolytic anaemia in association with a neurological phenotype and co‐existing <scp> <i>CEP290</i> Meckel–Gruber </scp> in a Romani family' Clinical Genetics 101, (1) 142-143 , DOI
Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE & Lim D (2021) 'Heterozygous variants in <scp> <i>ZBTB7A</i> </scp> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin' American Journal of Medical Genetics Part A 188, (1) 272-282 , DOI
Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C, Fahey M, Menzies L, Baptista J & Carpineta L (2021) 'L1CAM variants cause two distinct imaging phenotypes on fetal MRI' Annals of Clinical and Translational Neurology 8, (10) 2004-2012 , DOI Open access
Hegarty R, Gibson P, Sambrotta M, Strautnieks S, Foskett P, Ellard S, Baptista J, Lillis S, Bansal S & Vara R (2021) 'Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology' The Journal of Pediatrics 236, 124-130 , DOI Open access
Williamson SL, Rasanayagam CN, Glover KJ, Baptista J, Naik S, Satodia P & Gowda H (2021) 'Rapid exome sequencing: revolutionises the management of acutely unwell neonates' European Journal of Pediatrics 180, (12) 3587-3591 , DOI Open access
MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori M-R, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F & Thomas Q (2021) 'Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates' Cell Reports 35, (10) 109226-109226 , DOI Open access
Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM & McLaughlin H (2021) 'Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies' European Journal of Human Genetics 29, (9) 1384-1395 , DOI Open access
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC & Niemi MEK (2021) 'The contribution of X-linked coding variation to severe developmental disorders' Nature Communications 12, (1) , DOI
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC & McRae JF (2020) 'Evidence for 28 genetic disorders discovered by combining healthcare and research data' Nature 586, (7831) 757-762 , DOI
Ashraf T, Vaina C, Giri D, Burren CP, James M, Offiah AC, Overton T, Baptista J, Ellard S & Smithson SF (2020) 'Expanding the phenotypic spectrum of <i>IFT81</i> : Associated ciliopathy syndrome' American Journal of Medical Genetics Part A 182, (10) 2403-2408 , DOI
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L & McGlynn J (2020) 'DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes' Journal of Medical Genetics 58, (7) 453-464 , DOI Open access
Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ & Gardham A (2020) 'Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor' Frontiers in Molecular Neuroscience 13, , DOI Open access
Le Fevre A, Baptista J, Ellard S, Overton T, Oliver A, Gradhand E & Scurr I (2020) 'Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd' European Journal of Medical Genetics 63, (2) 103657-103657 , DOI
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH & Grochowski CM (2020) 'Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism' The American Journal of Human Genetics 106, (2) 272-279 , DOI Open access
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B & Chao KR (2019) 'Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy' Human Mutation 41, (2) 403-411 , DOI Open access
Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J & Ajeawung NF (2019) 'Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases' The American Journal of Human Genetics 105, (2) 384-394 , DOI
Laugsch M, Bartusel M, Rehimi R, Alirzayeva H, Karaolidou A, Crispatzu G, Zentis P, Nikolic M, Bleckwehl T & Kolovos P (2019) 'Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs' Cell Stem Cell 24, (5) 736-752.e12 , DOI
Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S & Scurr I (2019) 'Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay' European Journal of Medical Genetics 62, (2) 97-102 , DOI Open access
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte J-F, Ellaway C & Procopis P (2018) 'NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses' Brain 142, (1) 50-58 , DOI
Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC & Lango Allen H (2017) 'Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing' Prenatal Diagnosis 38, (1) 33-43 , DOI Open access
Thomas NS, Morris JK, Baptista J, Ng BL, Crolla JA & Jacobs PA (2009) 'De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age' Journal of Medical Genetics 47, (2) 112-115 , DOI
Murphy R, Baptista J, Holly J, Umpleby AM, Ellard S, Harries LW, Crolla J, Cundy T & Hattersley AT (2008) 'Severe Intrauterine Growth Retardation and Atypical Diabetes Associated with a Translocation Breakpoint Disrupting Regulation of the Insulin-Like Growth Factor 2 Gene' The Journal of Clinical Endocrinology &amp; Metabolism 93, (11) 4373-4380 , DOI
Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA & Crolla JA (2008) 'Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort' The American Journal of Human Genetics 82, (4) 927-936 , DOI
Gribble SM, Kalaitzopoulos D, Burford DC, Prigmore E, Selzer RR, Ng BL, Matthews NSW, Porter KM, Curley R & Lindsay SJ (2006) 'Ultra-high resolution array painting facilitates breakpoint sequencing' Journal of Medical Genetics 44, (1) 51-58 , DOI
Baptista J, Prigmore E, Gribble SM, Jacobs PA, Carter NP & Crolla JA (2005) 'Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals' European Journal of Human Genetics 13, (11) 1205-1212 , DOI
Pereira Baptista JDC 'Dysmorphism and immunodeficiency - one of the differential diagnoses is PAX1 related Otofaciocervical Syndrome Type 2' European Journal of Medical Genetics Open access
Conference Papers
Baptista J, Stals K, De Franco E, Mallin L, Fryer V, Wakeling M, Parrish A, Johnson A, Settle J & Caswell R (2019) 'A gene-agnostic trio exome strategy maximises diagnostic yield by uncovering disease-causing variants in newly discovered disease genes' 1635-1635
Racine C, Baptista J, Hawkes L, Thauvin-Robinet C, Vitobello A, Callier P, Duffourd Y, Philippe C, De Vries B & Verloes A (2019) 'Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A' 1529-1530
Laugsch M, Bartsuel M, Rehimi R, Alirzayeva H, Karaolidou A, Crispatzu G, Zentis P, Nikolic M, Bleckwehl T & Kolovos P (2019) 'Modeling the pathological long-range regulatory effects of human structural variation with patient-specific hiPSCs' 1168-1169
Baptista J, Stals K, De Franco E, Fryer V, Wakeling M, Parrish A, Mallin L, Bussell A, Settle J & Gunning AC (2019) 'A gene-agnostic trio exome sequencing strategy outperforms gene panel analysis' 507-508
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte J, Ellaway CJ & Procopis P (2019) 'NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses' 751-752 Open access
Baptista J, Stals KL, Wakeling M, Jones G, Parrish A, Bussell A, Caswell R, Tysoe C, Baple E & Ellard S (2018) 'High diagnostic yield through a gene-agnostic trio exome sequencing strategy that identifies mutations in new and old rare disease genes' 618-618
Baptista J, Prigmore E, Gribble SM, Jacobs PA, Carter NP & Crolla JA (2006) 'Breakpoint mapping in apparently balanced translocations: comparing phenotypically abnormal individuals with controls' S100-S100
Singh R, Cundy T, Baptista J, Crolla J, Ellard S & Hattersley AT (2006) 'Diabetes, very low birthweight and short stature resulting from disruption of paternally-derived IGF2 region 11p15.5' A265-A265