Profiles
Dr Julia Baptista
Honorary University Fellow
Peninsula Medical School (Faculty of Health)
Biography
Biography
Julia Baptista is the Programme Lead for the MSc Healthcare Management, Leadership and Innovation and for the MSc 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, as the Rare Disease Scientific and Education Lead for Genome Sequencing at the South West Genomic Laboratory Hub and as a Faculty on a CPD course at the European School of Genetic Medicine.She has a special interest in the role of leadership, innovation and quality assurance in improving health outcomes and delivering patient safety.
Qualifications
2018: Royal College of Pathologists Part I exam in Genetics
2016: NHS Leadership Academy Award in Leadership Foundations
2008: PhD in Human Genetics, University of Southampton, UK
2002: BSc (Hons) Microbial Biology and Genetics, University of Lisbon, Portugal
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 (2022- ongoing)
Publications
Publications
Key publications
Key publications are highlighted
Journals
Articles
(2023) 'Clinical findings and structural analysis involving a patient with a novel KLHL15 variant' European Journal of Medical Genetics , DOI
(2022) 'Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012' European Journal of Human Genetics 30, (10) 1100-1101 , DOI Open access
(2022) 'Germline homozygous missense <i>DEPDC5</i> variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria' Human Molecular Genetics , DOI Open access
(2022) 'Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement' American Journal of Human Genetics , DOI Open access
(2022) 'Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype' Journal of Neuromuscular Diseases 1-6 , DOI Open access
(2022) 'Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome' European Journal of Medical Genetics 65, (10) , DOI Open access
(2022) 'Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms' Life Science Alliance 5, (12) , DOI Open access
(2022) 'Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: a retrospective regional evaluation' European Journal of Medical Genetics 65, (9) , DOI Open access
(2022) 'Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans' Journal of Medical Genetics , DOI Open access
(2022) 'Dysmorphism and immunodeficiency - one of the differential diagnoses is PAX1 related Otofaciocervical Syndrome Type 2' European Journal of Medical Genetics 65, (7) , DOI Open access
(2022) 'UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking' Journal of Clinical Investigation 132, (10) , DOI Open access
(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
(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
<i>ZBTB7A</i>
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, (6) 1930-1930 , DOI
(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
(2022) 'X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing' Clinical Dysmorphology 31, (2) 101-105 , DOI Open access
(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
(2021) 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome' Genetics in Medicine 23, (11) 2122-2137 , DOI Open access
(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
(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
(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
(2021) 'L1CAM variants cause two distinct imaging phenotypes on fetal MRI' Annals of Clinical and Translational Neurology 8, (10) 2004-2012 , DOI Open access
(2021) 'Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology' The Journal of Pediatrics 236, 124-130 , DOI Open access
(2021) 'Rapid exome sequencing: revolutionises the management of acutely unwell neonates' European Journal of Pediatrics 180, (12) 3587-3591 , DOI Open access
(2021) 'Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates' Cell Reports 35, (10) 109226-109226 , DOI Open access
(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
(2021) 'The contribution of X-linked coding variation to severe developmental disorders' Nature Communications 12, (1) , DOI
(2020) 'Evidence for 28 genetic disorders discovered by combining healthcare and research data' Nature 586, (7831) 757-762 , DOI
(2020) 'Expanding the phenotypic spectrum of
<i>IFT81</i>
: Associated ciliopathy syndrome' American Journal of Medical Genetics Part A 182, (10) 2403-2408 , DOI
(2020) 'DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes' Journal of Medical Genetics 58, (7) 453-464 , DOI Open access
(2020) 'Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor' Frontiers in Molecular Neuroscience 13, , DOI Open access
(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
(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
(2019) 'Recurrent
<i>TTN</i>
metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy' Human Mutation 41, (2) 403-411 , DOI Open access
(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
(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
(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
(2018) 'NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses' Brain 142, (1) 50-58 , DOI
(2017) 'Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing' Prenatal Diagnosis 38, (1) 33-43 , DOI Open access
(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
(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 & Metabolism 93, (11) 4373-4380 , DOI
(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
(2006) 'Ultra-high resolution array painting facilitates breakpoint sequencing' Journal of Medical Genetics 44, (1) 51-58 , DOI
(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
'Evaluating the penetrance of pathogenic genetic variants associated with Premature Ovarian Insufficiency' Nature Medicine
Conference Papers
(2019) 'A gene-agnostic trio exome strategy maximises diagnostic yield by uncovering disease-causing variants in newly discovered disease genes' 1635-1635
(2019) 'Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A' 1529-1530
(2019) 'A gene-agnostic trio exome sequencing strategy outperforms gene panel analysis' 507-508
(2019) 'NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses' 751-752 Open access
(2018) 'High diagnostic yield through a gene-agnostic trio exome sequencing strategy that identifies mutations in new and old rare disease genes' 618-618
(2006) 'Breakpoint mapping in apparently balanced translocations: comparing phenotypically abnormal individuals with controls' S100-S100
(2006) 'Diabetes, very low birthweight and short stature resulting from disruption of paternally-derived IGF2 region 11p15.5' A265-A265
Internet Publications
https://www.genomicseducation.hee.nhs.uk/blog/rapid-exome-sequencing-a-look-inside-the-lab/
Presentations and posters
'eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia' , DOI
'Modeling the pathological long-range regulatory effects of human structural variation with patient-specific hiPSCs'