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Article

Aggarwal, D; Page, AJ; Schaefer, U; Savva, GM; Myers, R; Volz, E; Ellaby, N; ... Harrison, EM; + view all (2022) Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission. Nature Communications , 13 , Article 1012. 10.1038/s41467-022-28371-z. Green open access
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Akin, L; Rizzoti, K; Gregory, LC; Corredor, B; Le Quesne Stabej, P; Williams, H; Buonocore, F; ... Dattani, MT; + view all (2022) Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. Genetics in Medicine , 24 (2) pp. 384-397. 10.1016/j.gim.2021.09.019. Green open access
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Ali, Naseer; Maharaj, Avinaash Vickram; Buonocore, Federica; Achermann, John C; Metherell, Louise A; (2022) Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report. Frontiers in Endocrinology , 13 , Article 860055. 10.3389/fendo.2022.860055. Green open access
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Bacila, I; Lawrence, NR; Mahdi, S; Alvi, S; Cheetham, TD; Crowne, E; Das, U; ... Krone, NP; + view all (2022) Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study. European Journal of Endocrinology , 187 (4) pp. 543-553. 10.1530/EJE-21-1109. Green open access
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Bacq, A; Roussel, D; Bonduelle, T; Zagaglia, S; Maletic, M; Ribierre, T; Adle-Biassette, H; ... Baulac, S; + view all (2022) Cardiac investigations in sudden unexpected death in DEPDC5-related epilepsy. Annals of Neurology , 91 (1) pp. 101-116. 10.1002/ana.26256. Green open access
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Baptiste, C; Mellis, R; Aggarwal, V; Lord, J; Eberhardt, R; Kilby, MD; Maher, ER; ... Chitty, LS; + view all (2022) Fetal central nervous system anomalies: When should we offer exome sequencing? Prenatal Diagnosis , 42 (6) pp. 736-743. 10.1002/pd.6145. Green open access
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Bezen, Diğdem; Kutlu, Orkide; Mouilleron, Stephane; Rizzoti, Karine; Dattani, Mehul; Guran, Tulay; Yeşil, Gözde; (2022) A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy. American Journal of Medical Genetics Part A , 188 (9) pp. 2701-2706. 10.1002/ajmg.a.62888. Green open access
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Birkeland, Nina Asheim; Carlsen, Viel Nyborg; Gulati, Sasha; Gustavsson, Emil K; Aasly, Jan O; (2022) Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene. Parkinsonism & Related Disorders , 98 pp. 88-90. 10.1016/j.parkreldis.2022.01.019. Green open access
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Bolton, SC; Soran, V; Marfa, MP; Imrie, J; Gissen, P; Jahnova, H; Sharma, R; ... Geberhiwot, T; + view all (2022) Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet Journal of Rare Diseases , 17 (1) , Article 51. 10.1186/s13023-022-02200-4. Green open access
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Brunetti-Pierri, N; Gissen, P; (2022) A retrograde approach for liver gene transfer. Methods & Clinical Development , 27 pp. 488-490. 10.1016/j.omtm.2022.11.002. Green open access
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Bryant, Dale; Pauzuolyte, Valda; Ingham, Neil J; Patel, Aara; Pagarkar, Waheeda; Anderson, Lucy A; Smith, Katie E; ... Bitner-Glindzicz, Maria; + view all (2022) The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. JCI Insight , 7 (3) , Article e148586. 10.1172/jci.insight.148586. Green open access
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Buchanan, James; Hill, Melissa; Vass, Caroline M; Hammond, Jennifer; Riedijk, Sam; Klapwijk, Jasmijn E; Harding, Eleanor; ... Lewis, Celine; + view all (2022) Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey. Prenatal Diagnosis 10.1002/pd.6159. (In press). Green open access
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Burlina, A; Jones, SA; Chakrapani, A; Church, HJ; Heales, S; Wu, THY; Morton, G; ... Cheillan, D; + view all (2022) A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes. International Journal of Neonatal Screening , 8 (2) , Article 25. 10.3390/ijns8020025. Green open access
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Cerbone, Manuela; Katugampola, Harshini; Simpson, Helen L; Dattani, Mehul T; (2022) Approach to the Patient: Management of Pituitary Hormone Replacement Through Transition. The Journal of Clinical Endocrinology & Metabolism , 107 (7) pp. 2077-2091. 10.1210/clinem/dgac129. Green open access
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Chandler, Natalie J; Scotchman, Elizabeth; Mellis, Rhiannon; Ramachandran, Vijaya; Roberts, Rowenna; Chitty, Lyn S; (2022) Lessons learnt from prenatal exome sequencing. Prenatal Diagnosis 10.1002/pd.6165. (In press). Green open access
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Choi, Minee L; Chappard, Alexandre; Singh, Bhanu P; Maclachlan, Catherine; Rodrigues, Margarida; Fedotova, Evgeniya I; Berezhnov, Alexey V; ... Gandhi, Sonia; + view all (2022) Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicity. Nature Neuroscience 10.1038/s41593-022-01140-3. (In press). Green open access
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Chung, Gary Hong Chun; Lorvellec, Maëlle; Gissen, Paul; Pichaud, Franck; Burden, Jemima J; Stefan, Christopher J; (2022) The ultrastructural organization of endoplasmic reticulum-plasma membrane contacts is conserved in epithelial cells. Molecular Biology of the Cell 10.1091/mbc.E21-11-0534-T. (In press). Green open access
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Craven, Claudia L; Gissen, Paul; Bower, Rebecca; Lee, Laura; Aquilina, Kristian; Thompson, Dominic NP; (2022) A survival analysis of ventricular access devices for delivery of cerliponase alfa. Journal of Neurosurgery: Pediatrics , 29 (1) pp. 115-121. 10.3171/2021.7.PEDS21129. Green open access
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Doykov, Ivan; Baldwin, Tomas; Spiewak, Justyna; Gilmour, Kimberly C; Gibbons, Joseph M; Pade, Corinna; Reynolds, Catherine; ... Heywood, Wendy E; + view all (2022) Quantitative, multiplexed, targeted proteomics for ascertaining variant specific SARS-CoV-2 antibody response. Cell Reports Methods , 2 (9) , Article 100279. 10.1016/j.crmeth.2022.100279. Green open access
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Duff, Claire; Baruteau, Julien; (2022) Modelling urea cycle disorders using iPSCs. npj Regenerative Medicine , 7 , Article 56. 10.1038/s41536-022-00252-5. Green open access
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Eales, O; Page, AJ; De Oliveira Martins, L; Wang, H; Bodinier, B; Haw, D; Jonnerby, J; ... Elliott, P; + view all (2022) SARS-CoV-2 lineage dynamics in England from September to November 2021: high diversity of Delta sub-lineages and increased transmissibility of AY.4.2. BMC Infectious Diseases , 22 , Article 647. 10.1186/s12879-022-07628-4. Green open access
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Elangovan, Ramyia; Baruteau, Julien; (2022) Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation? Frontiers in Pharmacology , 13 , Article 972468. 10.3389/fphar.2022.972468. Green open access
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García-Ruiz, Sonia; Gustavsson, Emil K; Zhang, David; Reynolds, Regina H; Chen, Zhongbo; Fairbrother-Browne, Aine; Gil-Martínez, Ana Luisa; ... Ryten, Mina; + view all (2022) IntroVerse: a comprehensive database of introns across human tissues. Nucleic Acids Research 10.1093/nar/gkac1056. (In press). Green open access
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Gibson, Joel T; Sadeghi-Alavijeh, Omid; Gale, Daniel P; Rothe, Hansjörg; Genomics England Research Consortium; Savige, Judy; (2022) Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome. Scientific Reports , 12 , Article 11257. 10.1038/s41598-022-14928-x. Green open access
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Grant, HE; Roy, S; Williams, R; Tutill, H; Ferns, B; Cane, PA; Carswell, JW; ... Leigh Brown, AJ; + view all (2022) A large population sample of African HIV genomes from the 1980s reveals a reduction in subtype D over time associated with propensity for CXCR4 tropism. Retrovirology , 19 , Article 28. 10.1186/s12977-022-00612-5. Green open access
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Gustavsson, Emil K; Zhang, David; Reynolds, Regina H; Garcia-Ruiz, Sonia; Ryten, Mina; (2022) ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2. Bioinformatics 10.1093/bioinformatics/btac409. (In press). Green open access
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Hall, George T; Oliveto, Pietro S; Sudholt, Dirk; (2022) On the impact of the performance metric on efficient algorithm configuration. Artificial Intelligence , 303 , Article 103629. 10.1016/j.artint.2021.103629. Green open access
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Hällqvist, Jenny; Lane, Dan; Shapanis, Andrew; Davis, Kayleigh; Heywood, Wendy E; Doykov, Ivan; Śpiewak, Justyna; ... Carling, Rachel S; + view all (2022) Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use. Clinical Chemistry and Laboratory Medicine (CCLM) , 61 (2) pp. 302-310. 10.1515/cclm-2022-1000. Green open access
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Hill, Melissa; Ellard, Sian; Fisher, Jane; Fulop, Naomi; Knight, Marian; Kroese, Mark; Ledger, Jean; ... Chitty, Lyn S; + view all (2022) Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service. NIHR Open Research , 2 , Article 10. 10.3310/nihropenres.13247.2. Green open access
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Hill, Melissa; Ellard, Sian; Fisher, Jane; Fulop, Naomi; Knight, Marian; Kroese, Mark; Ledger, Jean; ... Chitty, Lyn; + view all (2022) Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service. NIHR Open Research , 2 , Article 10. 10.3310/nihropenres.13247.1. Green open access
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Jacobsen, JOB; Baudis, M; Baynam, GS; Beckmann, JS; Beltran, S; Buske, OJ; Callahan, TJ; ... Robinson, PN; + view all (2022) The GA4GH Phenopacket schema defines a computable representation of clinical data. Nature Biotechnology , 40 (6) pp. 817-820. 10.1038/s41587-022-01357-4. Green open access
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Jones, SA; Cheillan, D; Chakrapani, A; Church, HJ; Heales, S; Wu, THY; Morton, G; ... Burlina, A; + view all (2022) Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. International Journal of Neonatal Screening , 8 (1) , Article 20. 10.3390/ijns8010020. Green open access
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Kaivola, K; Shah, Z; Chia, R; Black, SE; Gan-Or, Z; Keith, J; Masellis, M; ... Scholz, SW; + view all (2022) Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. Brain , 145 (5) pp. 1757-1762. 10.1093/brain/awab402. Green open access
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Karaa, Amel; MacMullen, Laura E; Campbell, John C; Christodoulou, John; Cohen, Bruce H; Klopstock, Thomas; Koga, Yasutoshi; ... Falk, Marni J; + view all (2022) Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Advanced Genetics , 3 (1) , Article 2100047. 10.1002/ggn2.202100047. Green open access
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Keshavan, Nandaki; Wood, Michelle; Alderson, Lucy M; Cortina-Borja, Mario; Skeath, Rachel; McSweeney, Mel; Dixon, Marjorie; ... Batzios, Spyros; + view all (2022) Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency. JIMD Reports , 63 (2) pp. 123-130. 10.1002/jmd2.12266. Green open access
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Khalil, Y; Carrino, S; Lin, F; Ferlin, A; Lad, HV; Mazzacuva, F; Falcone, S; ... Clayton, PT; + view all (2022) Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation. International Journal of Molecular Sciences , 23 (2) , Article 987. 10.3390/ijms23020987. Green open access
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Kılıç Yıldırım, G; Yarar, C; Şeker Yılmaz, B; Ceylaner, S; (2022) Niemann–Pick type C disease with a novel intronic mutation: three Turkish cases from the same family. Journal of Pediatric Endocrinology and Metabolism , 35 (4) pp. 535-541. 10.1515/jpem-2021-0052. Green open access
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Kor, Deniz; Bulut, Fatma Derya; Kılavuz, Sebile; Şeker Yılmaz, Berna; Köşeci, Burcu; Kara, Esra; Kaya, Ömer; ... Önenli Mungan, Neslihan; + view all (2022) Evaluation of bone health in patients with mucopolysaccharidosis. Journal of Bone and Mineral Metabolism , 40 (3) pp. 498-507. 10.1007/s00774-021-01304-4. Green open access
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Kožich, Viktor; Schwahn, Bernd; Sokolová, Jitka; Křížková, Michaela; Ditroi, Tamas; Krijt, Jakub; Khalil, Youssef; ... Nagy, Peter; + view all (2022) Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis. Redox Biology , 58 , Article 102517. 10.1016/j.redox.2022.102517. Green open access
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Kozicz, Tamas; Rahman, Shamima; Morava, Eva; (2022) The doxycycline paradox in primary mitochondrial diseases. Journal of Inherited Metabolic Disease , 45 (4) pp. 659-660. 10.1002/jimd.12531. Green open access
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Krohn, Lynne; Heilbron, Karl; Blauwendraat, Cornelis; Reynolds, Regina H; Yu, Eric; Senkevich, Konstantin; Rudakou, Uladzislau; ... Gan-Or, Ziv; + view all (2022) Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects. Nature Communications , 13 , Article 7496. 10.1038/s41467-022-34732-5. Green open access
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Lee, Eun Jeong; Saraiva, Luis R; Hanchate, Naresh K; Ye, Xiaolan; Asher, Gregory; Ho, Jonathan; Buck, Linda B; (2022) Odor blocking of stress hormone responses. Scientific Reports , 12 (1) , Article 8773. 10.1038/s41598-022-12663-x. Green open access
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Lewis, Celine; Buchanan, James; Clarke, Angus; Clement, Emma; Friedrich, Bettina; Hastings-Ward, Jillian; Hill, Melissa; ... Lakhanpaul, Monica; + view all (2022) Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol. NIHR Open Research , 1 , Article 23. 10.3310/nihropenres.13236.2. Green open access
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Lobanov, Sergey V; McAllister, Branduff; McDade-Kumar, Mia; Landwehrmeyer, G Bernhard; Orth, Michael; Rosser, Anne E; REGISTRY Investigators of the European Huntington’s disease netw; ... Jones, Lesley; + view all (2022) Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. npj Genomic Medicine , 7 (1) , Article 53. 10.1038/s41525-022-00317-w. Green open access
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Lopez-Fabuel, Irene; Garcia-Macia, Marina; Buondelmonte, Costantina; Burmistrova, Olga; Bonora, Nicolo; Alonso-Batan, Paula; Morant-Ferrando, Brenda; ... Bolaños, Juan P; + view all (2022) Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nature Communications , 13 , Article 536. 10.1038/s41467-022-28191-1. Green open access
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Macken, William L; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E; ... Pitceathly, Robert DS; + view all (2022) Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing. Nature Communications , 13 , Article 6324. 10.1038/s41467-022-32908-7. Green open access
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Maharaj, Avinaash; Güran, Tülay; Buonocore, Federica; Achermann, John C; Metherell, Louise; Prasad, Rathi; Çetinkaya, Semra; (2022) Insights from long term follow-up of a girl with adrenal insufficiency and sphingosine-1-phosphate lyase deficiency. Journal of the Endocrine Society 10.1210/jendso/bvac020. (In press). Green open access
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Maharaj, Avinaash; Kwong, Ruth; Williams, Jack; Smith, Christopher; Storr, Helen; Krone, Ruth; Braslavsky, Debora; ... Prasad, Rathi; + view all (2022) A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. Endocrine Connections , 11 (8) , Article e220250. 10.1530/EC-22-0250. Green open access
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Maniatis, Aristides K; Carakushansky, Mauri; Galcheva, Sonya; Prakasam, Gnanagurudasan; Fox, Larry A; Dankovcikova, Adriana; Loftus, Jane; ... Lebl, Jan; + view all (2022) Treatment Burden of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Randomized Study. Journal of the Endocrine Society , 6 (10) , Article bvac117. 10.1210/jendso/bvac117. Green open access
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McGlacken-Byrne, Sinéad M; Achermann, John C; Conway, Gerard S; (2022) Management of a girl with delayed puberty and elevated gonadotropins. Journal of the Endocrine Society , Article bvac108. 10.1210/jendso/bvac108. (In press). Green open access
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McGlacken-Byrne, Sinead M; del Valle, Ignacio; Stabej, Polona Le Quesne; Bellutti, Laura; Garcia-Alonso, Luz; Ocaka, Louise A; Ishida, Miho; ... Achermann, John C; + view all (2022) Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency. JCI Insight , 7 (5) , Article e154671. 10.1172/jci.insight.154671. Green open access
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McGlacken-Byrne, SM; Abdelmaksoud, A; Haini, M; Palm, L; Ashworth, M; Li, J; Wang, W; ... Dattani, MT; + view all (2022) Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing’s syndrome and acral cutaneous mucinosis. European Journal of Endocrinology , 187 (6) K55-K61. 10.1530/EJE-22-0287. Green open access
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McShane, Annie; Mole, Sara E; (2022) Sex bias and omission exists in Batten disease research: Systematic review of the use of animal disease models. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1868 (11) , Article 166489. 10.1016/j.bbadis.2022.166489. Green open access
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Mellis, R; Eberhardt, RY; Hamilton, SJ; McMullan, DJ; Kilby, MD; Maher, ER; Hurles, ME; ... Chitty, LS; + view all (2022) Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? BJOG: An International Journal of Obstetrics & Gynaecology , 129 (1) pp. 52-61. 10.1111/1471-0528.16869. Green open access
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Mellis, Rhiannon; Oprych, Kathryn; Scotchman, Elizabeth; Hill, Melissa; Chitty, Lyn S; (2022) Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis. Prenatal Diagnosis , 42 (6) pp. 662-685. 10.1002/pd.6115. Green open access
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Mellis, Rhiannon; Tapon, Dagmar; Shannon, Nora; Dempsey, Esther; Pandya, Pranav; Chitty, Lyn S; Hill, Melissa; (2022) Implementing a rapid fetal exome sequencing service: What do parents and health professionals think? Prenatal Diagnosis , 42 (6) pp. 783-795. 10.1002/pd.6140. Green open access
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Meng, Jinhong; Moore, Marc; Counsell, John; Muntoni, Francesco; Popplewell, Linda; Morgan, Jennifer; (2022) Optimized lentiviral vector for restoration of full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy. Molecular Therapy: Methods & Clinical Development 10.1016/j.omtm.2022.04.015. (In press). Green open access
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Meoni, G; Tenori, L; Schade, S; Licari, C; Pirazzini, C; Bacalini, MG; Garagnani, P; ... Luchinat, C; + view all (2022) Metabolite and lipoprotein profiles reveal sex-related oxidative stress imbalance in de novo drug-naive Parkinson's disease patients. npj Parkinson's Disease , 8 , Article 14. 10.1038/s41531-021-00274-8. Green open access
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Mitchison, HM; Smedley, D; (2022) Primary ciliary dyskinesia: a big data genomics approach. The Lancet Respiratory Medicine , 10 (5) pp. 423-425. 10.1016/S2213-2600(22)00009-1. Green open access
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Moreno-Ruiz, N; Ambrose, JC; Arumugam, P; Baple, EL; Bleda, M; Boardman-Pretty, F; Boissiere, JM; ... Casals, F; + view all (2022) Assessing the digenic model in rare disorders using population sequencing data. European Journal of Human Genetics 10.1038/s41431-022-01191-x. (In press). Green open access
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Nickbakhsh, S; Hughes, J; Christofidis, N; Griffiths, E; Shaaban, S; Enright, J; Smollett, K; ... Simpson, DA; + view all (2022) Genomic epidemiology of SARS-CoV-2 in a university outbreak setting and implications for public health planning. Scientific Reports , 12 , Article 11735. 10.1038/s41598-022-15661-1. Green open access
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Owen, N; Toms, M; Young, RM; Eintracht, J; Sarkar, H; Brooks, BP; Moosajee, M; ... Zarowiecki, M; + view all (2022) Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis. Genetics in Medicine 10.1016/j.gim.2021.12.014. (In press). Green open access
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Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; ... Clinical cohort recruitment and characterization group, .; + view all (2022) Niemann–Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders. Developmental Medicine & Child Neurology 10.1111/dmcn.15334. (In press). Green open access
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Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; ... Hengel, Holger; + view all (2022) Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genetics in Medicine , 24 (10) pp. 2079-2090. 10.1016/j.gim.2022.07.006. Green open access
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Peter, Michelle; Hammond, Jennifer; Sanderson, Saskia C; Gurasashvili, Jana; Hunter, Amy; Searle, Beverly; Patch, Christine; ... Lewis, Celine; + view all (2022) Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study. European Journal of Human Genetics 10.1038/s41431-022-01065-2. Green open access
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Polubothu, Satyamaanasa; Bender, Nicole; Muthiah, Siobhan; Zecchin, Davide; Demetriou, Charalambos; Martin, Sara Barberan; Malhotra, Sony; ... Kinsler, Veronica A; + view all (2022) PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. Journal of Investigative Dermatology 10.1016/j.jid.2022.09.661. (In press). Green open access
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Rahman, Shamima; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes; (2022) Quo vadis now: Beyond genomics to an era of personalised medicine. Journal of Inherited Metabolic Disease , 45 (2) pp. 129-131. 10.1002/jimd.12487. Green open access
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Real, Raquel; Martinez-Carrasco, Alejandro; Reynolds, Regina H; Lawton, Michael A; Tan, Manuela MX; Shoai, Maryam; Corvol, Jean-Christophe; ... Morris, Huw R; + view all (2022) Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia. Brain , Article awac414. 10.1093/brain/awac414. (In press). Green open access
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Schreglmann, Sebastian R; Burke, Derek; Batla, Amit; Kresojevic, Nikola; Wood, Nicholas; Heales, Simon; Bhatia, Kailash P; (2022) Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia. Movement Disorders , 37 (4) , Article e28937. 10.1002/mds.28937.

Schultz, Ruediger; Elenius, Varpu; Fassad, Mahmoud R; Freke, Grace; Rogers, Andrew; Shoemark, Amelia; Koistinen, Tiina; ... Sironen, Anu I; + view all (2022) CFAP300 mutation causing primary ciliary dyskinesia in Finland. Frontiers in Genetics , 13 , Article 985227. 10.3389/fgene.2022.985227. Green open access
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Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; ... Gissen, Paul; + view all (2022) Three-Country Snapshot of Ornithine Transcarbamylase Deficiency. Life , 12 (11) , Article 1721. 10.3390/life12111721. Green open access
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Sethi, Siddharth; Zhang, David; Guelfi, Sebastian; Chen, Zhongbo; Garcia-Ruiz, Sonia; Olagbaju, Emmanuel O; Ryten, Mina; ... Botia, Juan A; + view all (2022) Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes. Nature Communications , 13 , Article 2270. 10.1038/s41467-022-30017-z. Green open access
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Shariq, OA; Lines, KE; English, KA; Jafar-Mohammadi, B; Prentice, P; Casey, R; Challis, BG; ... Thakker, RV; + view all (2022) Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes. Surgery , 171 (1) pp. 77-87. 10.1016/j.surg.2021.04.041. Green open access
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Shoemark, Amelia; Griffin, Helen; Wheway, Gabrielle; Hogg, Claire; Lucas, Jane S; Genomics England Research, Consortium; Camps, Carme; ... Wood, SM; + view all (2022) Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis. European Respiratory Journal , 60 (5) , Article 2200176. 10.1183/13993003.00176-2022. Green open access
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Soutar, Marc PM; Melandri, Daniela; O'Callaghan, Benjamin; Annuario, Emily; Monaghan, Amy E; Welsh, Natalie J; D'Sa, Karishma; ... Plun-Favreau, Hélène; + view all (2022) Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci. Brain 10.1093/brain/awac325. (In press). Green open access
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Stapley, RJ; Poulter, NS; Khan, AO; Smith, CW; Bignell, P; Fratter, C; Lester, W; ... Graham,, C; + view all (2022) Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding. Journal of Thrombosis and Haemostasis , 20 (2) pp. 478-485. 10.1111/jth.15584. Green open access
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Suntharalingham, Jenifer P; Ishida, Miho; Del Valle, Ignacio; Stalman, Susanne E; Solanky, Nita; Wakeling, Emma; Moore, Gudrun E; ... Buonocore, Federica; + view all (2022) Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome. Frontiers in Endocrinology , 13 , Article 953707. 10.3389/fendo.2022.953707. Green open access
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Teare, H; Argente, J; Dattani, M; Leger, J; Maghnie, M; Sherlock, M; Ali, GC; ... Marjanovic, S; + view all (2022) Challenges and improvement needs in the care of patients with central diabetes insipidus. Orphanet journal of rare diseases , 17 (1) , Article 58. 10.1186/s13023-022-02191-2. Green open access
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Thomas, Rhys H; Hunter, Amy; Butterworth, Lyndsey; Feeney, Catherine; Graves, Tracey D; Holmes, Sarah; Hossain, Pushpa; ... Rahman, Shamima; + view all (2022) Research priorities for mitochondrial disorders: Current landscape and patient and professional views. Journal of Inherited Metabolic Disease 10.1002/jimd.12521. (In press). Green open access
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Toomey, Christina E; Heywood, Wendy E; Evans, James R; Lachica, Joanne; Pressey, Sarah N; Foti, Sandrine C; Al Shahrani, Mesfer; ... Gandhi, Sonia; + view all (2022) Mitochondrial dysfunction is a key pathological driver of early stage Parkinson's. Acta Neuropathologica Communications , 10 (1) , Article 134. 10.1186/s40478-022-01424-6. Green open access
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Tucker, Elena J; Baker, Megan J; Hock, Daniella H; Warren, Julia T; Jaillard, Sylvie; Bell, Katrina M; Sreenivasan, Rajini; ... Sinclair, Andrew H; + view all (2022) Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights. Journal of Clinical Endocrinology and Metabolism , 107 (12) pp. 3328-3340. 10.1210/clinem/dgac528. Green open access
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van Vliet, K; van Ginkel, WG; Jahja, R; Daly, A; MacDonald, A; Santra, S; De Laet, C; ... van Spronsen, FJ; + view all (2022) Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway. Journal of Inherited Metabolic Disease 10.1002/jimd.12528. (In press). Green open access
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Vindrola-Padros, Cecilia; Ledger, Jean; Hill, Melissa; Tomini, Sonila; Spencer, Jonathan; Fulop, Naomi J; (2022) The Special Measures for Quality and Challenged Provider Regimes in the English NHS: A Rapid Evaluation of a National Improvement Initiative for Failing Healthcare Organisations. International Journal of Health Policy and Management 10.34172/ijhpm.2022.6619. (In press). Green open access
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Wahedi, Azizia; Soondram, Chandika; Murphy, Alan E; Skene, Nathan; Rahman, Shamima; (2022) Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes. Journal of Inherited Metabolic Disease 10.1002/jimd.12578. (In press). Green open access
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Whittle, Ella F; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D; ... Carroll, Christopher J; + view all (2022) Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Genetics in Medicine 10.1016/j.gim.2022.11.001. (In press). Green open access
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Wilkinson, Meredyth G Ll; Moulding, Dale; McDonnell, Thomas CR; Orford, Michael; Wincup, Chris; Ting, Joanna YJ; Otto, Georg W; ... Wedderburn, Lucy R; + view all (2022) Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis. Annals of the Rheumatic Diseases 10.1136/ard-2022-223469. (In press). Green open access
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Willett, BJ; Grove, J; MacLean, OA; Wilkie, C; De Lorenzo, G; Furnon, W; Cantoni, D; ... Thomson, EC; + view all (2022) SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway. Nature Microbiology 10.1038/s41564-022-01143-7. (In press). Green open access
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Yeo, M; Rehsi, P; Dorman, M; Grunewald, S; Baruteau, J; Chakrapani, A; Footitt, E; ... McSweeney, M; + view all (2022) Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. JIMD Reports , 63 (2) pp. 137-145. 10.1002/jmd2.12274. Green open access
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Zago, E; Dal Molin, A; Dimitri, GM; Xumerle, L; Pirazzini, C; Bacalini, MG; Maturo, MG; ... Williams, D; + view all (2022) Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients. Scientific Reports , 12 , Article 1330. 10.1038/s41598-022-05227-6. Green open access
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Zaharieva, Irina T; Scoto, Mariacristina; Aragon‐Gawinska, Karolina; Ridout, Deborah; Doreste, Bruno; Servais, Laurent; Muntoni, Francesco; (2022) Response of plasma microRNAs to nusinersen treatment in patients with SMA. Annals of Clinical and Translational Neurology 10.1002/acn3.51579. Green open access
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Zhou, Haiyan; Hong, Ying; Scoto, Mariacristina; Thomson, Alison; Pead, Emma; MacGillivray, Tom; Hernandez-Gerez, Elena; ... Muntoni, Francesco; + view all (2022) Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect. Journal of Clinical Investigation , 132 (21) , Article e153430. 10.1172/JCI153430. Green open access
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Book chapter

Aguti, Sara; Guirguis, Fady; Bönnemann, Carsten; Muntoni, Francesco; Bolduc, Veronique; Zhou, Haiyan; (2022) Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy. In: Maruyama, R and Yokota, T, (eds.) Methods in Molecular Biology. (pp. 387-407). Springer Nature: New York, NY, USA.

Working / discussion paper

Ortiz, Arturo Torres; Kendall, Michelle; Storey, Nathaniel; Hatcher, James; Dunn, Helen; Roy, Sunando; Williams, Rachel; ... Grandjean, Louis; + view all (2022) Within-host diversity improves phylogenetic and transmission reconstruction of SARS-CoV-2 outbreaks. BioRxiv: Cold Spring Harbor, NY, USA. Green open access
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Venturini, Cristina; Colston, Julia; Charles, Oscar; Best, Timothy; Atkinson, Claire; Forrest, Calum; Williams, Charlotte; ... Breuer, Judith; + view all (2022) Persistent low-level variants in a subset of HCMV genes are highly predictive of poor outcome in immunocompromised patients with cytomegalovirus infection. MedRxiv: Cold Spring Harbor, NY, USA. Green open access
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Thesis

Hällqvist, Jenny Cecilia; (2022) Biomarker discovery in Parkinson's disease and centenarians - Proteomic studies of neurodegeneration and healthy ageing by mass spectrometry and machine learning. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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This list was generated on Mon Apr 22 02:42:00 2024 BST.