Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 155.
A
Abarrategi, A;
Foster, K;
Hamilton, A;
Mian, SA;
Passaro, D;
Gribben, J;
Mufti, G;
(2017)
Versatile humanized niche model enables study of normal and malignant human hematopoiesis.
Journal of Clinical Investigation
, 127
(2)
pp. 543-548.
10.1172/JCI89364.
![]() |
![]() |
Achermann, JC;
Schwabe, J;
Fairall, L;
Chatterjee, K;
(2017)
Genetic disorders of nuclear receptors.
Journal of Clinical Investigation
, 127
(4)
pp. 1181-1192.
10.1172/JCI88892.
![]() |
Al Shahrani, M;
Heales, S;
Hargreaves, I;
Orford, M;
(2017)
Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.
Journal Of Clinical Medicine
, 6
(11)
, Article 100. 10.3390/jcm6110100.
![]() |
![]() |
Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2017)
C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition.
Presented at: Great Ormond Street Hospital Conference, London, UK.
![]() |
![]() |
Antony, D;
Nampoory, N;
Bacchelli, C;
Melhem, M;
Wu, K;
James, CT;
Beales, PL;
... Alsmadi, O; + view all
(2017)
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
[Review].
European Journal of Medical Genetics
, 60
(12)
pp. 658-666.
10.1016/j.ejmg.2017.08.019.
![]() |
![]() |
Arber, C;
Angelova, PR;
Wiethoff, S;
Tsuchiya, Y;
Mazzacuva, F;
Preza, E;
Bhatia, KP;
... Wray, S; + view all
(2017)
iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.
PLoS One
, 12
(9)
, Article e0184104. 10.1371/journal.pone.0184104.
![]() |
![]() |
Arno, G;
Carss, KJ;
Hull, S;
Zihni, C;
Robson, AG;
Fiorentino, A;
Hardcastle, AJ;
... Yu, P; + view all
(2017)
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
The American Journal of Human Genetics
, 100
(2)
pp. 334-342.
10.1016/j.ajhg.2016.12.014.
![]() |
B
Bacchelli, C;
Moretti, FA;
Carmo, M;
Adams, S;
Stanescu, HC;
Pearce, K;
Madkaikar, M;
... Gaspar, HB; + view all
(2017)
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
Journal of Allergy and Clinical Immunology
, 139
(2)
pp. 634-642.
10.1016/j.jaci.2016.05.036.
![]() |
Bamber, Andrew Richard;
(2017)
A proteomic approach to determining cause of death in sudden unexpected death in infancy (SUDI).
Doctoral thesis (M.D(Res)), UCL (University College London).
![]() |
Baranski Lamback, E;
Morandi, G;
Rapti, E;
Christov, G;
Brogan, PA;
Hindmarsh, P;
(2017)
Addison's disease presenting with perimyocarditis.
Journal of Pediatric Endocrinology and Metabolism
, 31
(1)
pp. 101-105.
10.1515/jpem-2017-0278.
![]() |
Baruteau, J;
Jameson, E;
Morris, AA;
Chakrapani, A;
Santra, S;
Vijay, S;
Kocadag, H;
... Davison, JE; + view all
(2017)
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 357-368.
10.1007/s10545-017-0022-x.
![]() |
![]() |
Baruteau, J;
Waddington, SN;
Alexander, IE;
Gissen, P;
(2017)
Delivering efficient liver-directed AAV-mediated gene therapy.
Gene Therapy
, 24
(5)
pp. 263-264.
10.1038/gt.2016.90.
![]() |
Baruteau, J;
Waddington, SN;
Alexander, IE;
Gissen, P;
(2017)
Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.
Journal of Inherited Metabolic Disease
, 40
(4)
pp. 497-517.
10.1007/s10545-017-0053-3.
![]() |
![]() |
Baruteau, JC;
(2017)
A gene therapy approach for Argininosuccinic aciduria.
Doctoral thesis , UCL (University College London).
![]() |
Batllori, M;
Molero-Luis, M;
Ormazabal, A;
Casado, M;
Sierra, C;
Garcia-Cazorla, A;
Kurian, M;
... Artuch, R; + view all
(2017)
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.
Nature Protocols
, 12
(11)
pp. 2359-2375.
10.1038/nprot.2017.103.
![]() |
![]() |
Baud, A;
Wessely, F;
Mazzacuva, F;
McCormick, J;
Camuzeaux, S;
Heywood, WE;
Little, D;
... Mills, K; + view all
(2017)
Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells.
Analytical Chemistry
, 89
(4)
pp. 2440-2448.
10.1021/acs.analchem.6b04368.
![]() |
Beesley, C;
Guerreiro, RJ;
Bras, JT;
Williams, RE;
Taratuto, AL;
Eltze, C;
Mole, SE;
(2017)
CLN8 disease caused by large genomic deletions.
Molecular Genetics & Genomic Medicine
, 5
(1)
pp. 85-91.
10.1002/mgg3.263.
![]() |
![]() |
Bernabò, P;
Tebaldi, T;
Groen, EJN;
Lane, FM;
Perenthaler, E;
Mattedi, F;
Newbery, HJ;
... Viero, G; + view all
(2017)
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology.
Cell Reports
, 21
(4)
pp. 953-965.
10.1016/j.celrep.2017.10.010.
![]() |
![]() |
Blauwendraat, C;
Faghri, F;
Pihlstrom, L;
Geiger, JT;
Elbaz, A;
Lesage, S;
Corvol, J-C;
... Scholz, S; + view all
(2017)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Neurobiology of Aging
, 57
247.e9-247.e13.
10.1016/j.neurobiolaging.2017.05.009.
![]() |
Boldrin, L;
Ross, JA;
Whitmore, C;
Doreste, B;
Beaver, C;
Eddaoudi, A;
Pearce, DJ;
(2017)
The effect of calorie restriction on mouse skeletal muscle is sex, strain and time-dependent.
Science Reports
, 7
(1)
, Article 5160. 10.1038/s41598-017-04896-y.
![]() |
![]() |
Botía, JA;
Vandrovcova, J;
Forabosco, P;
Guelfi, S;
D'Sa, K;
United Kingdom Brain Expression Consortium, .;
Hardy, J;
... Weale, ME; + view all
(2017)
An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.
BMC Systems Biology
, 11
, Article 47. 10.1186/s12918-017-0420-6.
![]() |
Brown, JR;
Roy, S;
Tutill, H;
Williams, R;
Breuer, J;
(2017)
Super-infections and relapses occur in chronic norovirus infections.
Journal of Clinical Virology
, 96
pp. 44-48.
10.1016/j.jcv.2017.09.009.
![]() |
Bryant, DT;
Landles, C;
Papadopoulou, AS;
Benjamin, AC;
Duckworth, JK;
Rosahl, T;
Benn, CL;
(2017)
Disruption to schizophrenia-associated gene Fez1 in the hippocampus of HDAC11 knockout mice.
Scientific Reports
, 7
(1)
, Article 11900. 10.1038/s41598-017-11630-1.
![]() |
![]() |
Buonocore, F;
Kühnen, P;
Suntharalingham, JP;
Del Valle, I;
Digweed, M;
Stachelscheid, H;
Khajavi, N;
... Achermann, JC; + view all
(2017)
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Journal of Clinical Investigation
, 127
(5)
pp. 1700-1713.
10.1172/JCI91913.
![]() |
Burke, Derek Gerard;
(2017)
Interplay between Glucocerebrosidase 1 and Glucocerebrosidase 2; potential implications for the pathogenesis of Gaucher and Parkinson's diseases.
Doctoral thesis , UCL (University College London).
![]() |
![]() |
Busam, KJ;
Shah, KN;
Gerami, P;
Sitzman, T;
Jungbluth, AA;
Kinsler, V;
(2017)
Reduced H3K27me3 Expression Is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules.
The American Journal of Surgical Pathology
, 41
(3)
pp. 396-404.
10.1097/PAS.0000000000000769.
![]() |
![]() |
C
Carss, KJ;
Arno, G;
Erwood, M;
Stephens, J;
Sanchis-Juan, A;
Hull, S;
Megy, K;
... Raymond, FL; + view all
(2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
American Journal of Human Genetics
, 100
(1)
pp. 75-90.
10.1016/j.ajhg.2016.12.003.
![]() |
![]() |
Casanova, MA;
Monteagudo-Sánchez, A;
Guerineau, LR;
Court, F;
Serrano, IG;
Martorell, L;
Zurriaga, CR;
... Hernando, JM; + view all
(2017)
Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted.
Human Mutation
, 38
(6)
pp. 615-620.
10.1002/humu.23213.
![]() |
Cerbone, M;
Dattani, MT;
(2017)
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.
Growth Hormone and IGF Research
, 37
pp. 19-25.
10.1016/j.ghir.2017.10.005.
![]() |
Chelban, V;
Patel, N;
Vandrovcova, J;
Zanetti, MN;
Lynch, DS;
Ryten, M;
Botia, JA;
... Houlden, H; + view all
(2017)
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
American Journal of Human Genetics
, 100
(6)
pp. 969-977.
10.1016/j.ajhg.2017.05.009.
![]() |
Chow, J;
Rahman, J;
Achermann, JC;
Dattani, MT;
Rahman, S;
(2017)
Mitochondrial disease and endocrine dysfunction.
Nature Reviews Endocrinology
, 13
(2)
pp. 92-104.
10.1038/nrendo.2016.151.
![]() |
Christiansen, MT;
Hullegie, SJ;
Schutten, M;
Einer-Jensen, K;
Tutill, HJ;
Breuer, J;
Rijnders, BJA;
(2017)
Use of whole genome sequencing in the Dutch Acute HCV in HIV study: focus on transmitted antiviral resistance.
Clinical Microbiology and Infection
, 23
(2)
123.e1-123.e4.
10.1016/j.cmi.2016.09.018.
![]() |
Clayton, PT;
(2017)
Inherited disorders of transition metal metabolism: an update.
Journal of Inherited Metabolic Disease
, 40
(4)
pp. 519-529.
10.1007/s10545-017-0030-x.
![]() |
Counsell, JR;
Asgarian, Z;
Meng, J;
Ferrer, V;
Vink, CA;
Howe, SJ;
Waddington, SN;
... Danos, O; + view all
(2017)
Lentiviral vectors can be used for full-length dystrophin gene therapy.
Scientific Reports
, 7
, Article 44775. 10.1038/srep44775.
![]() |
![]() |
D
Dattani, M;
Hawton, K;
Walton-Bethancourth, S;
Rumsby, G;
Raine, J;
(2017)
Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia.
Pediatrics
, 139
(2)
, Article e20160730. 10.1542/peds.2016-0730.
![]() |
Daudvohra, F;
Fassad, MR;
Dixon, M;
Burgoyne, T;
Rogers, AV;
Loebinger, MR;
Hogg, C;
... Shoemark, A; + view all
(2017)
Genetic and structural characterisation of outer dynein arm variants causing primary ciliary dyskinesia.
In:
(Proceedings) Winter Meeting of the British-Thoracic-Society.
(pp. A44-A44).
BMJ PUBLISHING GROUP
![]() |
Davison, JE;
Rahman, S;
(2017)
Recognition, investigation and management of mitochondrial disease.
Archives of Disease in Childhood
, 102
(11)
pp. 1082-1090.
10.1136/archdischild-2016-311370.
![]() |
![]() |
De La Fuente Barrigon, C;
Burke, D;
Eaton, SJ;
Heales, S;
(2017)
Inhibition of Neuronal Mitochondrial Complex I or Lysosomal Glucocerebrosidase is associated with Increased Dopamine and Serotonin Turnover.
Neurochemistry International
, 109
pp. 94-100.
10.1016/j.neuint.2017.02.013.
![]() |
Del Valle, I;
Buonocore, F;
Duncan, AJ;
Lin, L;
Barenco, M;
Parnaik, R;
Shah, S;
... Achermann, JC; + view all
(2017)
A genomic atlas of human adrenal and gonad development [version 1; referees: awaiting peer review].
Wellcome Open Research
, 2
, Article 25. 10.12688/wellcomeopenres.11253.1.
![]() |
![]() |
del Valle, I;
Buonocore, F;
Duncan, AJ;
Lin, L;
Barenco, M;
Parnaik, R;
Shah, S;
... Achermann, JC; + view all
(2017)
A genomic atlas of human adrenal and gonad development [version 2; referees: 4 approved].
Wellcome Open Research
, 2
, Article 25. 10.12688/wellcomeopenres.11253.2.
![]() |
![]() |
Delhove, JM;
Buckley, SM;
Perocheau, DP;
Karda, R;
Arbuthnot, P;
Henderson, NC;
Waddington, SN;
(2017)
Longitudinal in vivo bioimaging of hepatocyte transcription factor activity following cholestatic liver injury in mice.
Scientific Reports
, 7
, Article 41874. 10.1038/srep41874.
![]() |
![]() ![]() |
Desai, R;
Frazier, AE;
Durigon, R;
Patel, H;
Jones, AW;
Rosa, ID;
Lake, NJ;
... Spinazzola, A; + view all
(2017)
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
, 140
(6)
pp. 1595-1610.
10.1093/brain/awx094.
![]() |
![]() |
Di Tullio, A;
Rouault-Pierre, K;
Abarrategi, A;
Mian, S;
Grey, W;
Gribben, J;
Stewart, A;
... Bonnet, D; + view all
(2017)
The combination of CHK1 inhibitor with G-CSF overrides cytarabine resistance in human acute myeloid leukemia.
Nature Communications
, 8
, Article 1679. 10.1038/s41467-017-01834-4.
![]() |
![]() |
Dubruc, E;
Nadaud, B;
Ruchelli, E;
Heissat, S;
Baruteau, J;
Broue, P;
Debray, D;
... Collardeau-Frachon, S; + view all
(2017)
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.
Pediatric Research
, 81
(5)
pp. 712-721.
10.1038/pr.2017.8.
![]() |
![]() |
E
Eastlake, K;
Heywood, WE;
Tracey-White, D;
Aquino, E;
Bliss, E;
Vasta, GR;
Mills, K;
... Limb, GA; + view all
(2017)
Comparison of proteomic profiles in the zebrafish retina during experimental degeneration and regeneration.
Scientific Reports
, 7
, Article 44601. 10.1038/srep44601.
![]() |
![]() |
Eichler, F;
Duncan, C;
Musolino, PL;
Orchard, PJ;
De Oliveira, S;
Thrasher, AJ;
Armant, M;
... Williams, DA; + view all
(2017)
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
The New England Journal of Medicine
, 377
pp. 1630-1638.
10.1056/NEJMoa1700554.
![]() |
F
Fazal, SV;
Gomez-Sanchez, JA;
Wagstaff, LJ;
Musner, N;
Otto, G;
Janz, M;
Mirsky, R;
(2017)
Graded elevation of c-Jun in Schwann cells in vivo: gene dosage determines effects on development, re-myelination, tumorigenesis and hypomyelination.
Journal of Neuroscience
, 37
(50)
pp. 12297-12313.
10.1523/JNEUROSCI.0986-17.2017.
![]() |
![]() |
Forsythe, E;
Sparks, K;
Best, S;
Borrows, S;
Hoskins, B;
Sabir, A;
Barrett, T;
... Beales, PL; + view all
(2017)
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
Journal of the American Society of Nephrology
, 28
(3)
pp. 963-970.
10.1681/ASN.2015091029.
![]() |
![]() |
G
Geissler, JM;
International Parkinson Disease Genomics Consortium members;
Romanos, M;
Gerlach, M;
Berg, D;
Schulte, C;
(2017)
No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs.
ADHD Attention Deficit and Hyperactivity Disorders
, 9
(2)
pp. 121-127.
10.1007/s12402-017-0219-8.
![]() |
Gevers, EF;
Meredith, S;
Shah, P;
Torpiano, J;
Peters, C;
Sebire, NJ;
Slater, O;
... Dattani, MT; + view all
(2017)
Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.
Eur J Endocrinol
, 176
(2)
K1-K7.
10.1530/EJE-16-0776.
![]() |
![]() |
Gregory, LC;
(2017)
Investigation of new candidate genes in a cohort of patients with familial congenital hypopituitarism and associated disorders.
Doctoral thesis , UCL (University College London).
![]() |
![]() |
Griffiths, WJ;
Abdel-Khalik, J;
Crick, PJ;
Ogundare, M;
Shackleton, CH;
Tuschl, K;
Kwok, MK;
... Wang, Y; + view all
(2017)
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.
The Journal of Steroid Biochemistry and Molecular Biology
, 169
pp. 77-87.
10.1016/j.jsbmb.2016.03.018.
![]() |
Gruber, R;
Rogerson, C;
Windpassinger, C;
Banushi, B;
Straatman-Iwanowska, A;
Hanley, J;
Forneris, F;
... Gissen, P; + view all
(2017)
Autosomal Recessive Keratoderma-Ichthyosis- Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
, 137
(4)
pp. 845-854.
10.1016/j.jid.2016.12.010.
![]() |
H
Hanley, J;
Kumar Dhar, D;
Mazzacuva, F;
Fiadeiro, R;
Burden, JJ;
Lyne, AM;
Smith, H;
... Gissen, P; + view all
(2017)
Vps33b is Crucial for Structural and Functional Hepatocyte Polarity.
Journal of Hepatology
, 66
(5)
pp. 1001-1011.
10.1016/j.jhep.2017.01.001.
![]() |
Hart, SL;
(2017)
Prospects for RNA delivery with nanotechnologies.
[Editorial comment].
Gene Therapy
, 24
(3)
p. 121.
10.1038/gt.2017.15.
![]() |
Hart, SL;
Harrison, PT;
(2017)
Genetic therapies for cystic fibrosis lung disease.
Current Opinion in Pharmacology
, 34
pp. 119-124.
10.1016/j.coph.2017.10.006.
![]() |
Hartill, VL;
van de Hoek, G;
Patel, MP;
Little, R;
Watson, CM;
Berry, IR;
Shoemark, A;
... Johnson, CA; + view all
(2017)
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Human Molecular Genetics
10.1093/hmg/ddx422.
(In press).
![]() |
![]() |
He, CH;
Black, DS;
Allan, CM;
Meunier, B;
Rahman, S;
Clarke, CF;
(2017)
Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome.
Frontiers in Physiology
, 8
, Article 463. 10.3389/fphys.2017.00463.
![]() |
![]() |
Hendricks, AE;
Bochukova, EG;
Marenne, G;
Keogh, JM;
Atanassova, N;
Bounds, R;
Wheeler, E;
... Bhattacharyaa, S; + view all
(2017)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Scientific Reports
, 7
(1)
, Article 4394. 10.1038/s41598-017-03054-8.
![]() |
![]() |
Heywood, W;
Preece, RL;
Pryce, J;
Clayton, R;
Hallqvist, J;
Virasami, A;
Mills, K;
(2017)
Proteomic profiling reveals sub proteomes of the human placenta.
Placenta
, 59
pp. 69-72.
10.1016/j.placenta.2017.09.014.
![]() |
![]() |
Hibar, DP;
Adams, HH;
Jahanshad, N;
Chauhan, G;
Stein, JL;
Hofer, E;
Renteria, ME;
... Ikram, MA; + view all
(2017)
Novel genetic loci associated with hippocampal volume.
Nature Communications
, 8
, Article 13624. 10.1038/ncomms13624.
![]() |
![]() |
Hikmat, O;
Charalampos, T;
Klingenberg, C;
Rasmussen, M;
Tallaksen, CME;
Brodtkorb, E;
Fiskerstrand, T;
... Bindoff, LA; + view all
(2017)
The presence of anaemia negatively influences survival in patients with POLG disease.
Journal of Inherited Metabolic Disease
, 40
(6)
pp. 861-866.
10.1007/s10545-017-0084-9.
![]() |
Hikmat, O;
Tzoulis, C;
Chong, WK;
Chentouf, L;
Klingenberg, C;
Fratter, C;
Carr, LJ;
... Rahman, S; + view all
(2017)
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genetics in Medicine
, 19
(11)
pp. 1217-1225.
10.1038/gim.2017.35.
![]() |
Hill, M;
Oteng-Ntim, E;
Forya, F;
Petrou, M;
Morris, S;
Chitty, LS;
(2017)
Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.
Health Expectations
, 20
(6)
pp. 1289-1295.
10.1111/hex.12568.
![]() |
I
Illingworth, CJR;
Roy, S;
Beale, MA;
Tutill, H;
Williams, R;
Breuer, J;
(2017)
On the effective depth of viral sequence data.
Virus Evolution
, 3
(2)
, Article vex030. 10.1093/ve/vex030.
![]() |
Improda, N;
Ponmani, C;
Schoenmakers, N;
Senniappan, S;
Atterbury, A;
Barnicoat, A;
Chatterjee, K;
(2017)
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family.
Hormone Research in Paediatrics
, 88
(2)
pp. 172-178.
10.1159/000465521.
![]() |
J
Jansen, IE;
Ye, H;
Heetveld, S;
Lechler, MC;
Michels, H;
Seinstra, RI;
Lubbe, SJ;
... Heutink, P; + view all
(2017)
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Genome Biology
, 18
, Article 22. 10.1186/s13059-017-1147-9.
![]() |
K
Kammermeier, J;
Dziubak, R;
Pescarin, M;
Drury, S;
Godwin, H;
Reeve, K;
Chadokufa, S;
... Shah, N; + view all
(2017)
Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years.
Journal of Crohn's and Colitis
, 11
(1)
pp. 60-69.
10.1093/ecco-jcc/jjw118.
![]() |
Karaa, A;
Rahman, S;
Lombes, A;
Yu-Wai-Man, P;
Sheikh, MK;
Alai-Hansen, S;
Cohen, BH;
... Goldstein, A; + view all
(2017)
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 403-414.
10.1007/s10545-017-0035-5.
![]() |
Karda, R;
Perocheau, DP;
Suff, N;
Ng, J;
Delhove, JMKM;
Buckley, SMK;
Richards, S;
... Waddington, SN; + view all
(2017)
Continual conscious bioluminescent imaging in freely moving somatotransgenic mice.
Sci Rep
, 7
(1)
, Article 6374. 10.1038/s41598-017-06696-w.
![]() |
![]() |
Katugampola, H;
King, PJ;
Chatterjee, S;
Meso, M;
Duncan, AJ;
Achermann, JC;
Guasti, L;
... Storr, HL; + view all
(2017)
Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit.
The Journal of Clinical Endocrinology & Metabolism
, 102
(9)
pp. 3349-3359.
10.1210/jc.2017-00763.
![]() |
![]() |
Kenny, J;
Bacchelli, C;
Forsythe, E;
Beales, P;
(2017)
Toward personalized medicine in Bardet-Biedl syndrome.
Personalized Medicine
10.2217/pme-2017-0019.
(In press).
![]() |
Kenny, J;
Woollacott, I;
Koriath, C;
Hosszu, L;
Adamson, G;
Rudge, P;
Rossor, MN;
... Mead, S; + view all
(2017)
A novel prion protein variant in a patient with semantic dementia.
[Letter].
Journal of Neurology Neurosurgery and Psychiatry
, 2017
(88)
pp. 890-892.
10.1136/jnnp-2017-315577.
![]() |
![]() |
Khabbush, A;
Orford, M;
Tsai, Y-C;
Rutherford, T;
O'Donnell, M;
Eaton, S;
Heales, SJR;
(2017)
Neuronal decanoic acid oxidation is markedly lower than that of octanoic acid: A mechanistic insight into the medium-chain triglyceride ketogenic diet.
Epilepsia
, 58
(8)
pp. 1423-1429.
10.1111/epi.13833.
![]() |
Kilpinen, H;
Goncalves, A;
Leha, A;
Afzal, V;
Alasoo, K;
Ashford, S;
Bala, S;
... Gaffney, DJ; + view all
(2017)
Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature
, 546
(7658)
pp. 370-375.
10.1038/nature22403.
![]() |
![]() |
Kinsler, VA;
Larue, L;
(2017)
The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation.
Pigment Cell and Melanoma Research
10.1111/pcmr.12645.
(In press).
![]() |
![]() |
Kinsler, VA;
O'Hare, P;
Bulstrode, N;
Calonje, JE;
Chong, WK;
Hargrave, D;
Jacques, T;
... Slater, O; + view all
(2017)
Melanoma in congenital melanocytic naevi.
British Journal of Dermatology
, 176
(5)
pp. 1131-1143.
10.1111/bjd.15301.
![]() |
![]() |
Kinsler, VA;
O'Hare, P;
Jacques, T;
Hargrave, D;
Slater, O;
(2017)
MEK inhibition appears to improve symptom control in primary NRAS-driven CNS melanoma in children.
British Journal of Cancer
10.1038/bjc.2017.49.
(In press).
![]() |
![]() |
Kör, D;
Yılmaz, BŞ;
Bulut, FD;
Ceylaner, S;
Mungan, NÖ;
(2017)
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
Journal of Pediatric Endocrinology and Metabolism
, 30
(7)
pp. 713-718.
10.1515/jpem-2016-0461.
![]() |
![]() |
Kyriakakis, N;
Shonibare, T;
Kyaw-Tun, J;
Lynch, J;
Lagos, CF;
Achermann, JC;
Murray, RD;
(2017)
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
Pituitary
, 20
(5)
pp. 585-593.
10.1007/s11102-017-0822-x.
![]() |
![]() |
L
Le Quesne Stabej, P;
James, C;
Ocaka, L;
Tekman, M;
Grunewald, S;
Clement, E;
Stanescu, HC;
... Bitner-Glindzicz, M; + view all
(2017)
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet Journal of Rare Diseases
, 12
, Article 24. 10.1186/s13023-017-0582-8.
![]() |
![]() |
Lewis, C;
Hill, M;
Chitty, LS;
(2017)
Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?
Prenatal Diagnosis
, 37
(11)
pp. 1130-1137.
10.1002/pd.5154.
![]() |
Liao, L;
Gan, H-W;
Hwa, V;
Dattani, M;
Dauber, A;
(2017)
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.
Hormone Research in Paediatrics
, 88
pp. 364-370.
10.1159/000477907.
![]() |
Lorvellec, M;
Scottoni, F;
Crowley, C;
Fiadeiro, R;
Maghsoudlou, P;
Pellegata, AF;
Mazzacuva, F;
... Gissen, P; + view all
(2017)
Mouse decellularised liver scaffold improves human embryonic and induced pluripotent stem cells differentiation into hepatocyte-like cells.
PLoS One
, 12
(12)
, Article e0189586. 10.1371/journal.pone.0189586.
![]() |
M
Maas, RR;
Iwanicka-Pronicka, K;
Ucar, SK;
Alhaddad, B;
AlSayed, M;
Al-Owain, MA;
Al-Zaidan, HI;
... Wortmann, SB; + view all
(2017)
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Annals of Neurology
, 82
(6)
pp. 1004-1015.
10.1002/ana.25110.
![]() |
Maldonado, EM;
Leoncikas, V;
Fisher, CP;
Moore, JB;
Plant, NJ;
Kierzek, AM;
(2017)
Integration of Genome Scale Metabolic Networks and Gene Regulation of Metabolic Enzymes With Physiologically Based Pharmacokinetics.
CPT: Pharmacometrics & Systems Pharmacology
, 6
(11)
pp. 732-746.
10.1002/psp4.12230.
![]() |
![]() |
Manole, A;
Jaunmuktane, Z;
Hargreaves, I;
Ludtmann, MHR;
Salpietro, V;
Bello, OD;
Pope, S;
... Houlden, H; + view all
(2017)
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Brain
, 140
(11)
pp. 2820-2837.
10.1093/brain/awx231.
![]() |
Manunta, MDI;
Tagalakis, AD;
Attwood, M;
Aldossary, AM;
Barnes, JL;
Munye, MM;
Weng, A;
... Hart, SL; + view all
(2017)
Delivery of ENaC siRNA to epithelial cells mediated by a targeted nanocomplex: a therapeutic strategy for cystic fibrosis.
Scientific Reports
, 7
, Article 700. 10.1038/s41598-017-00662-2.
![]() |
Marotta, D;
Tinelli, E;
Mole, SE;
(2017)
NCLs and ER: A stressful relationship.
Biochim Biophys Acta
, 1863
(6)
pp. 1273-1281.
10.1016/j.bbadis.2017.04.003.
![]() |
Marrosu, E;
Ala, P;
Muntoni, F;
Zhou, H;
(2017)
Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy.
Molecular Therapy - Nucleic Acids
, 8
pp. 416-427.
10.1016/j.omtn.2017.07.006.
![]() |
![]() |
Martin, MD;
Jay, F;
Castellano, S;
Slatkin, M;
(2017)
Determination of genetic relatedness from low- coverage human genome sequences using pedigree simulations.
Molecular ecology
, 26
(16)
pp. 4145-4157.
10.1111/mec.14188.
![]() |
![]() |
Matalonga, L;
Bravo, M;
Serra-Peinado, C;
García-Pelegrí, E;
Ugarteburu, O;
Vidal, S;
Llambrich, M;
... Girós, M; + view all
(2017)
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Human Mutation
, 38
(2)
pp. 148-151.
10.1002/humu.23145.
![]() |
Melhem, M;
Abu-Farha, M;
Antony, D;
Al Madhoun, A;
Bacchelli, C;
Alkayal, F;
AlKhairi, I;
... Alsmadi, O; + view all
(2017)
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.
European Journal of Haematology
, 98
(3)
pp. 218-227.
10.1111/ejh.12819.
![]() |
![]() |
Meyer, E;
Carss, KJ;
Rankin, J;
Nichols, JM;
Grozeva, D;
Joseph, AP;
Mencacci, NE;
... Kurian, MA; + view all
(2017)
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature Genetics
, 49
(2)
pp. 223-237.
10.1038/ng.3740.
![]() |
Mishra, A;
Ferrari, R;
Heutink, P;
Hardy, J;
Pijnenburg, Y;
Posthuma, D;
(2017)
Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.
Brain
, 140
(5)
pp. 1437-1446.
10.1093/brain/awx066.
![]() |
Mitchison, HM;
Shoemark, A;
(2017)
Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.
Ultrastructural Pathology
, 41
(6)
pp. 415-427.
10.1080/01913123.2017.1370050.
![]() |
![]() ![]() |
Mitchison, HM;
Valente, EM;
(2017)
Motile and non-motile cilia in human pathology: from function to phenotypes.
The Journal of Pathology
, 241
(2)
pp. 294-309.
10.1002/path.4843.
![]() |
Mohamed-Ahmed, AHA;
Wilson, MP;
Albuera, M;
Chen, T;
Mills, PB;
Footitt, PB;
Clayton, PT;
(2017)
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.
Journal of Pharmacy and Pharmacology
, 69
(4)
pp. 480-488.
10.1111/jphp.12701.
![]() |
![]() |
Mole, SE;
(2017)
The value of a comprehensive natural history in late infantile CLN5 disease.
Developmental Medicine and Child Neurology
, 59
(8)
pp. 777-778.
10.1111/dmcn.13472.
![]() |
Moran, C;
Habeb, AM;
Kahaly, GJ;
Kampmann, C;
Hughes, M;
Marek, J;
Rajanayagam, O;
... Chatterjee, K; + view all
(2017)
Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
Journal of the Endocrine Society
, 1
(9)
pp. 1203-1212.
10.1210/js.2017-00204.
![]() |
Muggenthaler, MM;
Chowdhury, B;
Hasan, SN;
Cross, HE;
Mark, B;
Harlalka, GV;
Patton, MA;
... Chioza, BA; + view all
(2017)
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS Genetics
, 13
(1)
, Article e1006470. 10.1371/journal.pgen.1006470.
![]() |
![]() |
Munye, MM;
Diaz-Font, A;
Ocaka, L;
Henriksen, ML;
Lees, M;
Brady, A;
Jenkins, D;
... Hernandez-Hernandez, V; + view all
(2017)
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
PLoS Genet
, 13
(3)
, Article e1006679. 10.1371/journal.pgen.1006679.
![]() |
![]() |
Munye, MM;
Shoemark, A;
Hirst, RA;
Delhove, JM;
Sharp, TV;
McKay, TR;
O'Callaghan, C;
... Hart, SL; + view all
(2017)
BMI-1 extends proliferative potential of human bronchial epithelial cells whilst retaining their mucociliary differentiation capacity.
American Journal of Physiology - Lung Cellular and Molecular Physiology
, 312
(2)
L258-L267.
10.1152/ajplung.00471.2016.
![]() |
O
Olcese, C;
Patel, MP;
Shoemark, A;
Kiviluoto, S;
Legendre, M;
Williams, HJ;
Vaughan, CK;
... Mitchison, HM; + view all
(2017)
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Nature Communications
, 8
, Article 14279. 10.1038/ncomms14279.
![]() |
![]() ![]() |
Oud, MM;
Tuijnenburg, P;
Hempel, M;
van Vlies, N;
Ren, Z;
Ferdinandusse, S;
Jansen, MH;
... Kuijpers, TW; + view all
(2017)
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
American Journal of Human Genetics
, 100
(2)
pp. 281-296.
10.1016/j.ajhg.2017.01.013.
![]() |
Oxenford, K;
Daley, R;
Lewis, C;
Hill, M;
Chitty, LS;
(2017)
Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study.
BMC Pregnancy and Childbirth
, 17
, Article 132. 10.1186/s12884-017-1315-7.
![]() |
![]() |
P
Paillusson, S;
Gomez-Suaga, P;
Stoica, R;
Little, D;
Gissen, P;
Devine, MJ;
Noble, W;
... Miller, CCJ; + view all
(2017)
α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca(2+) homeostasis and mitochondrial ATP production.
Acta Neuropathol
10.1007/s00401-017-1704-z.
(In press).
![]() |
Parikh, S;
Goldstein, A;
Karaa, A;
Koenig, MK;
Anselm, I;
Brunel-Guitton, C;
Christodoulou, J;
... Chinnery, PF; + view all
(2017)
Response to Newman et al.
Genetics in Medicine
, 19
(12)
, Article 1380. 10.1038/gim.2017.164.
![]() |
![]() |
Parikh, S;
Goldstein, A;
Karaa, A;
Koenig, MK;
Anselm, I;
Brunel-Guitton, C;
Christodoulou, J;
... Chinnery, PF; + view all
(2017)
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genetics in Medicine
, 19
, Article 1380. 10.1038/gim.2017.107.
![]() |
Parviainen, L;
Dihanich, S;
Anderson, GW;
Wong, AM;
Brooks, HR;
Abeti, R;
Rezaie, P;
... Cooper, JD; + view all
(2017)
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.
Acta Neuropathologica Communications
, 5
, Article 74. 10.1186/s40478-017-0476-y.
![]() |
Passaro, D;
Abarrategi, A;
Foster, K;
Ariza-McNaughton, L;
Bonnet, D;
(2017)
Bioengineering of Humanized Bone Marrow Microenvironments in Mouse and Their Visualization by Live Imaging.
Journal of Visualized Experiments
, 126
, Article e55914. 10.3791/55914.
![]() |
![]() |
Passaro, D;
Di Tullio, A;
Abarrategi, A;
Rouault-Pierre, K;
Foster, K;
Ariza-McNaughton, L;
Montaner, B;
... Bonnet, D; + view all
(2017)
Increased Vascular Permeability in the Bone Marrow Microenvironment Contributes to Disease Progression and Drug Response in Acute Myeloid Leukemia.
Cancer Cell
, 32
(3)
324-341.e6.
10.1016/j.ccell.2017.08.001.
![]() |
![]() |
Patterson, MC;
Clayton, P;
Gissen, P;
Anheim, M;
Bauer, P;
Bonnot, O;
Dardis, A;
... Marquardt, T; + view all
(2017)
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Neurol Clin Pract
, 7
(6)
pp. 499-511.
10.1212/CPJ.0000000000000399.
![]() |
![]() |
Peall, KJ;
Ng, J;
Dy, ME;
Sharma, N;
Pope, S;
Heales, S;
Friedman, JR;
(2017)
Low CSF 5-HIAA in Myoclonus Dystonia.
Movement Disorder
, 32
(11)
pp. 1647-1649.
10.1002/mds.27117.
![]() |
Peskett, E;
Kumar, S;
Baird, W;
Jaiswal, J;
Li, M;
Patel, P;
Britto, JA;
(2017)
Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme.
Biol Open
10.1242/bio.022178.
![]() |
![]() |
Peters, H;
Francis, K;
Sconza, R;
Horn, A;
Peckham, C;
Tookey, PA;
Thorne, C;
(2017)
UK Mother to Child HIV Transmission Rates Continue to Decline: 2012-2014.
Clinical Infectious Diseases
, 64
(4)
pp. 527-528.
10.1093/cid/ciw791.
![]() |
Plumptre, I;
Polubothu, S;
Thomas, D;
Kinsler, V;
(2017)
White Eyelashes and Red Eyes in a 7‐Year‐Old Boy.
Pediatric Dermatology
, 34
(5)
pp. 612-613.
10.1111/pde.13213.
![]() |
Polubothu, S;
Kinsler, VA;
(2017)
The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics.
[Letter].
British Journal of Dermatology
, 176
(5)
pp. 1385-1387.
10.1111/bjd.15260.
![]() |
![]() |
Polubothu, S;
Scott, RH;
Vabres, P;
Kinsler, VA;
(2017)
Atypical dermal melanocytosis: A diagnostic clue in constitutional mismatch repair deficiency syndrome.
British Journal of Dermatology
10.1111/bjd.15532.
(In press).
![]() |
![]() |
Prasad, R;
Hadjidemetriou, I;
Maharaj, A;
Meimaridou, E;
Buonocore, F;
Saleem, M;
Hurcombe, J;
... Metherell, LA; + view all
(2017)
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Journal of Clinical Investigation
, 127
(3)
pp. 942-953.
10.1172/JCI90171.
![]() |
![]() |
Pronicka, E;
Ropacka-Lesiak, M;
Trubicka, J;
Pajdowska, M;
Linke, M;
Ostergaard, E;
Saunders, C;
... Additional individual contributors, .; + view all
(2017)
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Journal of Inherited Metabolic Disease
10.1007/s10545-017-0057-z.
(In press).
![]() |
![]() |
R
Rahman, J;
Noronha, A;
Thiele, I;
Rahman, S;
(2017)
Leigh map: A novel computational diagnostic resource for mitochondrial disease.
Annals of Neurology
, 81
(1)
pp. 9-16.
10.1002/ana.24835.
![]() |
![]() |
Reid, ES;
Williams, H;
Anderson, G;
Benatti, M;
Chong, K;
James, C;
Ocaka, L;
... Clayton, PT; + view all
(2017)
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 385-394.
10.1007/s10545-017-0025-7.
![]() |
Ritchie, DL;
Adlard, P;
Peden, AH;
Lowrie, S;
Le Grice, M;
Burns, K;
Jackson, RJ;
... Ironside, JW; + view all
(2017)
Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK.
Acta Neuropathologica
, 134
(2)
pp. 221-240.
10.1007/s00401-017-1703-0.
![]() |
Ritchie, DL;
Barria, MA;
Peden, AH;
Yull, HM;
Kirkpatrick, J;
Adlard, P;
Ironside, JW;
(2017)
UK Iatrogenic Creutzfeldt-Jakob disease: investigating human prion transmission across genotypic barriers using human tissue-based and molecular approaches.
Acta Neuropathol
, 133
(4)
pp. 579-595.
10.1007/s00401-016-1638-x.
![]() |
Robak, LA;
Jansen, IE;
van Rooij, J;
Uitterlinden, AG;
Kraaij, R;
Jankovic, J;
Heutink, P;
(2017)
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Brain
, 140
(12)
pp. 3191-3203.
10.1093/brain/awx285.
![]() |
Robson, EA;
Chetcuti, P;
Hirst, RA;
Mitchison, H;
Moya, E;
Peckham, D;
Robinson, PJ;
... O'Callaghan, C; + view all
(2017)
Update on primary ciliary dyskinesia.
Paediatrics and Child Health
, 27
(7)
pp. 337-342.
10.1016/j.paed.2017.03.007.
![]() |
Rouault-Pierre, K;
Mian, SA;
Goulard, M;
Abarrategi, A;
Di Tulio, A;
Smith, AE;
Mohamedali, A;
... Bonnet, D; + view all
(2017)
Preclinical modeling of myelodysplastic syndromes.
Leukemia
, 31
(12)
pp. 2702-2708.
10.1038/leu.2017.172.
![]() |
![]() |
S
Salpietro, V;
Efthymiou, S;
Manole, A;
Maurya, B;
Wiethoff, S;
Ashokkumar, B;
Cutrupi, MC;
... Houlden, H; + view all
(2017)
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Hum Mutat
10.1002/humu.23368.
(In press).
![]() |
![]() |
Salpietro, V;
Zollo, M;
Vandrovcova, J;
Ryten, M;
Botia, JA;
Ferrucci, V;
Manole, A;
... Houlden, H; + view all
(2017)
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
Brain
, 140
(8)
e49.
10.1093/brain/awx155.
![]() |
Sardone, V;
Zhou, H;
Muntoni, F;
Ferlini, A;
Falzarano, MS;
(2017)
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease.
Molecules
, 22
(4)
, Article 563. 10.3390/molecules22040563.
![]() |
![]() |
Savastano, CP;
Brito, LA;
Faria, ÁC;
Setó-Salvia, N;
Peskett, E;
Musso, CM;
Alvizi, L;
... Passos-Bueno, MR; + view all
(2017)
Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.
Clinical Genetics
, 91
(5)
pp. 683-689.
10.1111/cge.12823.
![]() |
Schoeler, NE;
Bell, G;
Yuen, A;
Kapelner, AD;
Heales, SJR;
Cross, JH;
Sisodiya, S;
(2017)
An examination of biochemical parameters and their association with response to ketogenic dietary therapies.
Epilepsia
, 58
(5)
pp. 893-900.
10.1111/epi.13729.
![]() |
Scott, TA;
Quintaneiro, LM;
Norvaisas, P;
Lui, PP;
Wilson, MP;
Leung, K-Y;
Herrera-Dominguez, L;
... Cabreiro, F; + view all
(2017)
Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans.
Cell
, 169
(3)
442-456.e18.
10.1016/j.cell.2017.03.040.
![]() |
Shimizu, H;
Langenbacher, AD;
Huang, J;
Wang, K;
Otto, G;
Geisler, R;
Wang, Y;
(2017)
The Calcineurin-FoxO-MuRF1 signaling pathway regulates myofibril integrity in cardiomyocytes.
eLife
, 6
, Article e27955. 10.7554/eLife.27955.
![]() |
![]() |
Shoemark, A;
Frost, E;
Dixon, M;
Ollosson, S;
Kilpin, K;
Patel, M;
Scully, J;
... Hogg, C; + view all
(2017)
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
American Journal of Respiratory and Critical Care Medicine
, 196
(1)
pp. 94-101.
10.1164/rccm.201607-1351OC.
![]() |
![]() |
Soreq, L;
UK Brain Expression Consortium, .;
North American Brain Expression Consortium, .;
Rose, J;
Soreq, E;
Hardy, J;
Trabzuni, D;
... Ule, J; + view all
(2017)
Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging.
Cell Reports
, 18
(2)
pp. 557-570.
10.1016/j.celrep.2016.12.011.
![]() |
Sweeney, NP;
Meng, J;
Patterson, H;
Morgan, JE;
McClure, M;
(2017)
Delivery of large transgene cassettes by foamy virus vector.
Scientific Reports
, 7
(1)
, Article 8085. 10.1038/s41598-017-08312-3.
![]() |
![]() |
T
Tagalakis, AD;
Maeshima, R;
Yu-Wai-Man, C;
Meng, J;
Syed, F;
Wu, LP;
Aldossary, AM;
... Hart, SL; + view all
(2017)
Peptide and nucleic acid-directed self-assembly of cationic nanovehicles through giant unilamellar vesicle modification: targetable nanocomplexes for in vivo nucleic acid delivery.
Acta Biomaterialia
10.1016/j.actbio.2017.01.048.
(In press).
![]() |
Thompson, CL;
Plant, JC;
Wann, AK;
Bishop, CL;
Novak, P;
Mitchison, HM;
Beales, PL;
... Knight, MM; + view all
(2017)
Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling.
European Cells and Materials
, 34
pp. 128-141.
10.22203/eCM.v034a09.
![]() |
Titre-Johnson, S;
Schoeler, N;
Eltze, C;
Williams, R;
Vezyroglou, K;
McCullagh, H;
Freemantle, N;
... Cross, JH; + view all
(2017)
Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial.
Trials
, 18
, Article 195. 10.1186/s13063-017-1918-3.
![]() |
Tomaz, RA;
Harman, JL;
Karimlou, D;
Weavers, L;
Fritsch, L;
Bou-Kheir, T;
Bell, E;
... Azuara, V; + view all
(2017)
Jmjd2c facilitates the assembly of essential enhancer-protein complexes at the onset of embryonic stem cell differentiation.
Development
, 144
(4)
pp. 567-579.
10.1242/dev.142489.
![]() |
![]() |
Tuschl, K;
(2017)
Zebrafish disease models to study the pathogenesis of inherited manganese transporter defects and provide a route for drug discovery.
Doctoral thesis , UCL (University College London).
![]() |
Tuschl, K;
Gregory, A;
Meyer, E;
Clayton, PT;
Hayflick, SJ;
Mills, PB;
Kurian, MA;
(2017)
SLC39A14 Deficiency.
GeneReviews
![]() |
![]() |
V
Viner, RM;
White, B;
Amin, R;
Peters, C;
Khanolkar, A;
Christie, D;
Hindmarsh, PC;
(2017)
Impact of deprivation, ethnicity, and insulin pump therapy on developmental trajectories of diabetes control in COB type 1 diabetes.
Pediatric Diabetes
, 18
(5)
pp. 384-391.
10.1111/pedi.12407.
![]() |
Vink, CA;
Counsell, JR;
Perocheau, DP;
Karda, R;
Buckley, SMK;
Brugman, MH;
Galla, M;
... Howe, SJ; + view all
(2017)
Eliminating HIV-1 Packaging Sequences from Lentiviral Vector Proviruses Enhances Safety and Expedites Gene Transfer for Gene Therapy.
Molecular Therapy
, 25
(8)
pp. 1790-1804.
10.1016/j.ymthe.2017.04.028.
![]() |
W
Wassenberg, T;
Molero-Luis, M;
Jeltsch, K;
Hoffmann, GF;
Assmann, B;
Blau, N;
Garcia-Cazorla, A;
... Opladen, T; + view all
(2017)
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Orphanet Journal of Rare Diseases
, 12
, Article 12. 10.1186/s13023-016-0522-z.
![]() |
![]() |
Williams, DM;
Buxton, JL;
Kantomaa, MT;
Tammelin, TH;
Blakemore, AIF;
Järvelin, M-R;
(2017)
Associations of Leukocyte Telomere Length With Aerobic and Muscular Fitness in Young Adults.
American Journal of Epidemiology
, 185
(7)
pp. 529-537.
10.1093/aje/kww123.
![]() |
Wilson, MP;
Footitt, EJ;
Papandreou, A;
Uudelepp, M-L;
Pressler, R;
Stevenson, DC;
Gabriel, C;
... Mills, PB; + view all
(2017)
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Analytical Chemistry
, 89
(17)
pp. 8892-8900.
10.1021/acs.analchem.7b01358.
![]() |
![]() |
Witoelar, A;
Jansen, IE;
Wang, Y;
Desikan, RS;
Gibbs, JR;
Blauwendraat, C;
Thompson, WK;
... International Parkinson’s Disease Genomics Consortium (IPDGC), N, .; + view all
(2017)
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.
JAMA Neurology
, 74
(7)
pp. 780-792.
10.1001/jamaneurol.2017.0469.
![]() |
Wortmann, SB;
Chen, MA;
Colombo, R;
Pontoglio, A;
Alhaddad, B;
Botto, LD;
Yuzyuk, T;
... and additional individual contributors, .; + view all
(2017)
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 423-431.
10.1007/s10545-017-0015-9.
![]() |
![]() |
Y
Yokoyama, JS;
Karch, CM;
Fan, CC;
Bonham, LW;
Kouri, N;
Ross, OA;
Rademakers, R;
... Desikan, RS; + view all
(2017)
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.
Acta Neuropathologica
, 133
(5)
pp. 825-837.
10.1007/s00401-017-1693-y.
![]() |
Yu Wai Man, C;
Tagalakis, AD;
Meng, JH;
Bouremel, Y;
Lee, RM;
Virasami, A;
Hart, SL;
(2017)
Genotype-Phenotype Associations of IL6 and PRG4 With Conjunctival Fibrosis After Glaucoma Surgery.
JAMA Ophthalmology
, 135
(11)
pp. 1147-1155.
10.1001/jamaophthalmol.2017.3407.
|
Yu-Wai-Man, C;
Owen, N;
Lees, J;
Tagalakis, AD;
Hart, SL;
Webster, AR;
Orengo, CA;
(2017)
Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery.
Scientific Reports
, 7
, Article 5644. 10.1038/s41598-017-05780-5.
![]() |
![]() |