Dr Julia Baptista

Dr Julia Baptista

Honorary University Fellow

Peninsula Medical School (Faculty of Health)



Julia Baptista was the Programme Lead for the MSc Healthcare Management, Leadership and Innovation and for the MSc Healthcare Improvement & Patient Safety at the Faculty of Health until April 2022.

An experienced educator and 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 member at the European School of Genetic Medicine. She left the University of Plymouth to pursue her passion for genomics and is now a Scientific Training Officer (Practice Educator) and Clinical Scientist at the South East Genomics Laboratory Hub in London (King's College Hospital, Synnovis).


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 (Exome scheme lead 2021 and 2022)

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

Editorial Board European Journal of Human Genetics (2022- ongoing)



Research interests

Rare disease

Variant interpretation

Genome sequencing





Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 Jul 27;. doi: 10.1038/s41431-023-01434-5. [Epub ahead of print] PubMed PMID: 37500725.


Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A. Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat Med. 2023 Jul;29(7):1692-1699. doi: 10.1038/s41591-023-02405-5. Epub 2023 Jun 22. PubMed PMID: 37349538.


Caswell RC, Baptista J, Cairns LM, Wilson K, Stewart H. Clinical findings and structural analysis involving a patient with a novel KLHL15 variant. Eur J Med Genet. 2023 Jun;66(6):104768. doi: 10.1016/j.ejmg.2023.104768. Epub 2023 Apr 12. PubMed PMID: 37059329.


Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. J Med Genet. 2023 Mar;60(3):294-300. doi: 10.1136/jmedgenet-2022-108475. Epub 2022 Jul 5. PubMed PMID: 35790350.


Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M, Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. PubMed PMID: 36067010; PubMed Central PMCID: PMC9896472.


Baptista J. Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012. Eur J Hum Genet. 2022 Oct;30(10):1100-1101. doi: 10.1038/s41431-022-01164-0. Epub 2022 Oct 3. PubMed PMID: 36221026; PubMed Central PMCID: PMC9553872.


Jones G, Johnson K, Eason J, Hamilton M, Osio D, Kanani F, Baptista J, Suri M. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome. Eur J Med Genet. 2022 Oct;65(10):104572. doi: 10.1016/j.ejmg.2022.104572. Epub 2022 Jul 31. PubMed PMID: 35918038.


McDermott H, Sherlaw-Sturrock C, Baptista J, Hartles-Spencer L, Naik S. Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation. Eur J Med Genet. 2022 Sep;65(9):104571. doi: 10.1016/j.ejmg.2022.104571. Epub 2022 Jul 14. PubMed PMID: 35842091.


Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. PubMed PMID: 36055214; PubMed Central PMCID: PMC9502063.


Nolden KA, Egner JM, Collier JJ, Russell OM, Alston CL, Harwig MC, Widlansky ME, Sasorith S, Barbosa IA, Douglas AG, Baptista J, Walker M, Donnelly DE, Morris AA, Tan HJ, Kurian MA, Gorman K, Mordekar S, Deshpande C, Samanta R, McFarland R, Hill RB, Taylor RW, Oláhová M. Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms. Life Sci Alliance. 2022 Aug 1;5(12). doi: 10.26508/lsa.202101284. PubMed PMID: 35914810; PubMed Central PMCID: PMC9354038.


Sherlaw-Sturrock C, Austin T, Baptista J, Gilmour K, Naik S. Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2. Eur J Med Genet. 2022 Jul;65(7):104523. doi: 10.1016/j.ejmg.2022.104523. Epub 2022 May 17. PubMed PMID: 35595062.


Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking. J Clin Invest. 2022 May 16;132(10). doi: 10.1172/JCI154997. PubMed PMID: 35575086; PubMed Central PMCID: PMC9106349.


Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. Am J Hum Genet. 2022 May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. PubMed PMID: 35390279; PubMed Central PMCID: PMC9118116.


Broly M, Polevoda BV, Awayda KM, Tong N, Lentini J, Besnard T, Deb W, O'Rourke D, Baptista J, Ellard S, Almannai M, Hashem M, Abdulwahab F, Shamseldin H, Al-Tala S, Alkuraya FS, Leon A, van Loon RLE, Ferlini A, Sanchini M, Bigoni S, Ciorba A, van Bokhoven H, Iqbal Z, Al-Maawali A, Al-Murshedi F, Ganesh A, Al-Mamari W, Lim SC, Pais LS, Brown N, Riazuddin S, Bézieau S, Fu D, Isidor B, Cogné B, O'Connell MR. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder. Am J Hum Genet. 2022 Apr 7;109(4):587-600. doi: 10.1016/j.ajhg.2022.02.001. Epub 2022 Feb 22. PubMed PMID: 35196516; PubMed Central PMCID: PMC9069073.


Pickwick C, Callewaert B, van Dijk F, Harris J, Wakeling E, Hay E, Yeo M, Chakrapani A, Baptista J, Moore S, Yoong M, Chatterjee F, Ghali N. Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Clin Dysmorphol. 2022 Apr 1;31(2):66-70. doi: 10.1097/MCD.0000000000000404. PubMed PMID: 34954732.


McDermott H, Garikapati V, Baptista J, Gowda H, Naik S. X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing. Clin Dysmorphol. 2022 Apr 1;31(2):101-105. doi: 10.1097/MCD.0000000000000412. PubMed PMID: 35102032.


Sasaki E, Phelan E, O'Regan M, Kassim AH, Miletin J, McMahon C, O'Sullivan MJ, Baptista J, Lynch SA. HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family. Clin Genet. 2022 Jan;101(1):142-143. doi: 10.1111/cge.14058. Epub 2021 Sep 16. PubMed PMID: 34532855.


von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, Thorstensen WM. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Am J Med Genet A. 2022 Jan;188(1):272-282. doi: 10.1002/ajmg.a.62492. Epub 2021 Sep 13. PubMed PMID: 34515416.


Oliwa A, Joseph S, Millar E, Horrocks I, Penman D, Baptista J, Cullup T, Constantinou P, Heuchan AM, Hamilton R, Longman C. Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype. J Neuromuscul Dis. 2022;9(6):803-808. doi: 10.3233/JND-220818. PubMed PMID: 36057830.


Williamson SL, Rasanayagam CN, Glover KJ, Baptista J, Naik S, Satodia P, Gowda H. Rapid exome sequencing: revolutionises the management of acutely unwell neonates. Eur J Pediatr. 2021 Dec;180(12):3587-3591. doi: 10.1007/s00431-021-04115-x. Epub 2021 Jun 18. PubMed PMID: 34143244; PubMed Central PMCID: PMC8212268.


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, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. PubMed PMID: 34345025; PubMed Central PMCID: PMC8553606.


May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A, Carminho A Rodrigues MT, Conlon C, Fluss J, Guipponi M, Kim CA, Matsumoto N, Person R, Primiano M, Rankin J, Shinawi M, Smith-Hicks C, Telegrafi A, Toy S, Uchiyama Y, Aggarwal V, Goldstein DB, Roche KW, Anyane-Yeboa K. Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. Genet Med. 2021 Oct;23(10):1912-1921. doi: 10.1038/s41436-021-01222-w. Epub 2021 Jun 10. PubMed PMID: 34113010; PubMed Central PMCID: PMC8487955.


Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C, Fahey M, Menzies L, Baptista J, Carpineta L, Tortora D, Fulcheri E, Gaetano Vellone V, Paladini D, Spaccini L, Toto V, Trayers C, Ben Sira L, Reches A, Malinger G, Salpietro V, De Marco P, Srour M, Zara F, Capra V, Rossi A, Severino M. L1CAM variants cause two distinct imaging phenotypes on fetal MRI. Ann Clin Transl Neurol. 2021 Oct;8(10):2004-2012. doi: 10.1002/acn3.51448. Epub 2021 Sep 12. PubMed PMID: 34510796; PubMed Central PMCID: PMC8528460.


Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM, McLaughlin H, Leeuwen L, Simon MEH, van Binsbergen E, Dinulos MBP, Kaplan JD, McRae A, Superti-Furga A, Good JM, Kutsche K. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies. Eur J Hum Genet. 2021 Sep;29(9):1384-1395. doi: 10.1038/s41431-021-00818-9. Epub 2021 Feb 16. PubMed PMID: 33594261; PubMed Central PMCID: PMC8440610.


Hegarty R, Gibson P, Sambrotta M, Strautnieks S, Foskett P, Ellard S, Baptista J, Lillis S, Bansal S, Vara R, Dhawan A, Grammatikopoulos T, Thompson RJ. Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology. J Pediatr. 2021 Sep;236:124-130. doi: 10.1016/j.jpeds.2021.05.041. Epub 2021 May 21. PubMed PMID: 34023347.


Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2021 Jul;58(7):453-464. doi: 10.1136/jmedgenet-2019-106805. Epub 2020 Jul 6. PubMed PMID: 32631816; PubMed Central PMCID: PMC7785698.


MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori MR, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F, Thomas Q, Gold NB, Brucker W, Amlie-Wolf L, Gripp KW, Bodamer O, Faivre L, Muona M, Menzies L, Baptista J, Guegan K, Male A, Wei XC, He G, Long Q, Innes AM, Yang G. Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. Cell Rep. 2021 Jun 8;35(10):109226. doi: 10.1016/j.celrep.2021.109226. PubMed PMID: 34107259.


Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Wright CF, FitzPatrick DR, Firth HV, Hurles ME. The contribution of X-linked coding variation to severe developmental disorders. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. PubMed PMID: 33504798; PubMed Central PMCID: PMC7840967.


Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. PubMed PMID: 33057194; PubMed Central PMCID: PMC7116826.


Ashraf T, Vaina C, Giri D, Burren CP, James M, Offiah AC, Overton T, Baptista J, Ellard S, Smithson SF. Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. Am J Med Genet A. 2020 Oct;182(10):2403-2408. doi: 10.1002/ajmg.a.61781. Epub 2020 Aug 11. PubMed PMID: 32783357.


Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J. Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. Front Mol Neurosci. 2020;13:12. doi: 10.3389/fnmol.2020.00012. eCollection 2020. PubMed PMID: 32116545; PubMed Central PMCID: PMC7026477.


Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. 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. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30. PubMed PMID: 32004445; PubMed Central PMCID: PMC7010973.


Le Fevre A, Baptista J, Ellard S, Overton T, Oliver A, Gradhand E, Scurr I. Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. Eur J Med Genet. 2020 Feb;63(2):103657. doi: 10.1016/j.ejmg.2019.04.014. Epub 2019 Apr 23. PubMed PMID: 31026592.


Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat. 2020 Feb;41(2):403-411. doi: 10.1002/humu.23938. Epub 2019 Dec 3. PubMed PMID: 31660661; PubMed Central PMCID: PMC7306402.


Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27. PubMed PMID: 31256876; PubMed Central PMCID: PMC6698938.


Laugsch M, Bartusel M, Rehimi R, Alirzayeva H, Karaolidou A, Crispatzu G, Zentis P, Nikolic M, Bleckwehl T, Kolovos P, van Ijcken WFJ, Šarić T, Koehler K, Frommolt P, Lachlan K, Baptista J, Rada-Iglesias A. Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs. Cell Stem Cell. 2019 May 2;24(5):736-752.e12. doi: 10.1016/j.stem.2019.03.004. Epub 2019 Apr 11. PubMed PMID: 30982769.


Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I. Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. Eur J Med Genet. 2019 Feb;62(2):97-102. doi: 10.1016/j.ejmg.2018.06.009. Epub 2018 Jun 12. PubMed PMID: 29902590.


Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. PubMed PMID: 30576410.


Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn. 2018 Jan;38(1):33-43. doi: 10.1002/pd.5175. Epub 2017 Dec 3. PubMed PMID: 29096039; PubMed Central PMCID: PMC5836855.


Thomas NS, Morris JK, Baptista J, Ng BL, Crolla JA, Jacobs PA. De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age. J Med Genet. 2010 Feb;47(2):112-5. doi: 10.1136/jmg.2009.069716. Epub 2009 Jul 27. PubMed PMID: 19638350.


Murphy R, Baptista J, Holly J, Umpleby AM, Ellard S, Harries LW, Crolla J, Cundy T, Hattersley AT. Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. J Clin Endocrinol Metab. 2008 Nov;93(11):4373-80. doi: 10.1210/jc.2008-0819. Epub 2008 Aug 26. PubMed PMID: 18728168.


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