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Number of items: 40.
Article
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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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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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
10.1016/j.parkreldis.2022.01.019.
(In press).
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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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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
, Article dgac129. 10.1210/clinem/dgac129.
(In press).
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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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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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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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Iwan, K;
Patel, N;
Heslegrave, A;
Borisova, M;
Lee, L;
Bower, R;
Mole, S;
... Heywood, W; + view all
(2022)
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 2; peer review: 1 approved, 1 approved with reservations].
F1000Research
, 10
, Article 614. 10.12688/f1000research.54556.2.
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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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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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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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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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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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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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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
10.1002/pd.6115.
(In press).
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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
10.1002/pd.6140.
(In press).
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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
10.1016/S2213-2600(22)00009-1.
(In press).
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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).
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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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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.
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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
, Article e28937. 10.1002/mds.28937.
(In press).
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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
(1)
pp. 77-87.
10.1016/j.surg.2021.04.041.
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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.
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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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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).
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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.
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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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