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Number of items: 98.
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.
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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.
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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.
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Ashford, F;
Best, A;
Dunn, SJ;
Ahmed, Z;
Siddiqui, H;
Melville, J;
Wilkinson, S;
... Jamrozy, D; + view all
(2022)
SARS-CoV-2 Testing in the Community: Testing Positive Samples with the TaqMan SARS-CoV-2 Mutation Panel To Find Variants in Real Time.
Journal of Clinical Microbiology
, 60
(4)
, Article e02408-21. 10.1128/jcm.02408-21.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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).
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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).
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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).
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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).
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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
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Young, RM;
Eintracht, J;
Sarkar, H;
Brooks, BP;
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(2022)
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.
Genetics in Medicine
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Papandreou, Apostolos;
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Spiewak, Justyna;
Komarov, Nikita;
Habermann, Stephanie;
Kurian, Manju A;
Mills, Philippa B;
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(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.
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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
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10.1016/j.gim.2022.07.006.
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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.
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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).
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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
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10.1002/jimd.12487.
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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).
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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
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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.
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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
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, Article 1721. 10.3390/life12111721.
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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.
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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
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10.1016/j.surg.2021.04.041.
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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
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, Article 2200176. 10.1183/13993003.00176-2022.
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Smallman-Raynor, MR;
Cliff, AD;
Robson, SC;
Connor, TR;
Loman, NJ;
Golubchik, T;
Martinez Nunez, RT;
... Wong, N; + view all
(2022)
Spatial growth rate of emerging SARS-CoV-2 lineages in England, September 2020-December 2021.
Epidemiology & Infection
, 150
, Article e145. 10.1017/S0950268822001285.
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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).
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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
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10.1111/jth.15584.
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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
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, Article 953707. 10.3389/fendo.2022.953707.
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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
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, Article 58. 10.1186/s13023-022-02191-2.
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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).
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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
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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
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10.1210/clinem/dgac528.
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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).
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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.
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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).
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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).
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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).
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Willett, BJ;
Grove, J;
MacLean, OA;
Wilkie, C;
De Lorenzo, G;
Furnon, W;
Cantoni, D;
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(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).
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Wright, DW;
Harvey, WT;
Hughes, J;
Cox, M;
Peacock, TP;
Colquhoun, R;
Jackson, B;
... Hassan-Ibrahim, MO; + view all
(2022)
Tracking SARS-CoV-2 mutations and variants through the COG-UK-Mutation Explorer.
Virus Evolution
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Yeo, M;
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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
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10.1002/jmd2.12274.
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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.
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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.
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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
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Book chapter
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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.
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Working / discussion paper
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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.
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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.
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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).
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