Browse by UCL people
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Number of items: 64.
Article
Ansari, M;
Rainger, J;
Hanson, IM;
Williamson, KA;
Sharkey, F;
Harewood, L;
Sandilands, A;
... FitzPatrick, DR; + view all
(2016)
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
PLoS One
, 11
(4)
, Article e0153757. 10.1371/journal.pone.0153757.
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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.
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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.
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Bakey, Zeineb;
Cabrera, Oscar A;
Hoefele, Julia;
Antony, Dinu;
Wu, Kaman;
Stuck, Michael W;
Micha, Dimitra;
... Pazour, Gregory J; + view all
(2023)
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
PLoS Genetics
, 19
(6)
, Article e1010796. 10.1371/journal.pgen.1010796.
(In press).
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Barrell, WB;
Griffin, JN;
Harvey, J-L;
Danovi, D;
Beales, P;
Grigoriadis, AE;
Liu, KJ;
(2019)
Induction of Neural Crest Stem Cells From Bardet-Biedl Syndrome Patient Derived hiPSCs.
Frontiers In Molecular Neuroscience
, 12
, Article 139. 10.3389/fnmol.2019.00139.
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Boldt, K;
Van Reeuwijk, J;
Lu, Q;
Koutroumpas, K;
Nguyen, TM;
Texier, Y;
Van Beersum, SE;
... UK10K Rare Diseases Group; + view all
(2016)
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nature Communications
, 7
, Article 11491. 10.1038/ncomms11491.
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Cuomo, ASE;
Seaton, DD;
McCarthy, DJ;
Martinez, I;
Bonder, MJ;
Garcia-Bernardo, J;
Amatya, S;
... Stegle, O; + view all
(2020)
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression.
Nature Communications
, 11
(1)
p. 810.
10.1038/s41467-020-14457-z.
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Forsythe, E;
Haws, RM;
Argente, J;
Beales, P;
Martos-Moreno, G;
Dollfus, H;
Chirila, C;
... Haqq, AM; + view all
(2023)
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results.
Orphanet Journal of Rare Diseases
, 18
(1)
, Article 12. 10.1186/s13023-022-02602-4.
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Forsythe, E;
Kenny, J;
Bacchelli, C;
Beales, PL;
(2018)
Managing Bardet-Biedl Syndrome-Now and in the Future.
Frontiers in Pediatrics
, 6
, Article 23. 10.3389/fped.2018.00023.
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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.
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Forsythe, E;
Sparks, K;
Hoskins, BE;
Bagkeris, E;
McGowan, BM;
Carroll, PV;
Huda, MS;
... Beales, PL; + view all
(2015)
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
Clin Genet
, 87
(4)
343 - 349.
10.1111/cge.12373.
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Freke, Grace Mercedes;
Martins, Tiago;
Davies, Rosalind Jane;
Beyer, Tina;
Seda, Marian;
Peskett, Emma;
Haq, Naila;
... Jenkins, Dagan; + view all
(2023)
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
Cells
, 12
(22)
, Article 2662. 10.3390/cells12222662.
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Fu Md, S;
Thompson PhD, CL;
Ali, A;
Wang PhD, W;
Chapple PhD, P;
Mitchison Phd, HM;
Beales, PL;
... Knight PhD, MM; + view all
(2019)
Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation.
Osteoarthritis Cartilage
10.1016/j.joca.2019.03.003.
(In press).
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Gagunashvili, AN;
Ocaka, L;
Kelberman, D;
Munot, P;
Bacchelli, C;
Beales, PL;
Ganesan, V;
(2019)
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
Human Genome Variation
, 6
, Article 35. 10.1038/s41439-019-0066-6.
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Gorman, KM;
Meyer, E;
Grozeva, D;
Spinelli, E;
McTague, A;
Sanchis-Juan, A;
Carss, KJ;
... Kurian, MA; + view all
(2019)
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
American Journal of Human Genetics
, 104
(5)
pp. 948-956.
10.1016/j.ajhg.2019.03.005.
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Halbritter, J;
Bizet, AA;
Schmidts, M;
Porath, JD;
Braun, DA;
Gee, HY;
McInerney-Leo, AM;
... Hildebrandt, F; + view all
(2013)
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.
Am J Hum Genet
, 93
(5)
pp. 915-925.
10.1016/j.ajhg.2013.09.012.
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Haq, N;
Schmidt-Hieber, C;
Sialana, FJ;
Ciani, L;
Heller, JP;
Stewart, M;
Bentley, L;
... Christou-Savina, S; + view all
(2019)
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
PLoS Biology
, 17
(9)
, Article e3000414. 10.1371/journal.pbio.3000414.
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Haworth, S;
Shapland, CY;
Hayward, C;
Prins, BP;
Felix, JF;
Medina-Gomez, C;
Rivadeneira, F;
... St Pourcain, B; + view all
(2019)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nature Communications
, 10
, Article 357. 10.1038/s41467-018-07863-x.
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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.
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Hernandez-Hernandez, V;
Pravincumar, P;
Diaz-Font, A;
May-Simera, H;
Jenkins, D;
Knight, M;
Beales, PL;
(2013)
Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation.
Human Molecular Genetics
, 22
(19)
pp. 3858-3868.
10.1093/hmg/ddt241.
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Huang, J;
Howie, B;
McCarthy, S;
Memari, Y;
Walter, K;
Min, JL;
Danecek, P;
... Soranzo, N; + view all
(2015)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature Communications
, 6
(811)
10.1038/ncomms9111.
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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.
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Kantaputra, Piranit;
Dejkhamron, Prapai;
Sittiwangkul, Rekwan;
Katanyuwong, Kamornwan;
Ngamphiw, Chumpol;
Sonsuwan, Nuntigar;
Intachai, Worrachet;
... Buranaphatthana, Worakanya; + view all
(2023)
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
Genes
, 14
(1)
, Article 84. 10.3390/genes14010084.
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Kelberman, D;
Islam, L;
Lakowski, J;
Bacchelli, C;
Chanudet, E;
Lescai, F;
Patel, A;
... Sowden, JC; + view all
(2014)
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Hum Mol Genet
, 23
(10)
pp. 2511-2526.
10.1093/hmg/ddt643.
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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).
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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.
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Lee, DDH;
Cardinale, D;
Nigro, E;
Butler, CR;
Rutman, A;
Fassad, MR;
Hirst, RA;
... O'Callaghan, C; + view all
(2021)
Higher throughput drug screening for rare respiratory diseases: Readthrough therapy in primary ciliary dyskinesia.
European Respiratory Journal
10.1183/13993003.00455-2020.
(In press).
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Lescai, F;
Bonfiglio, S;
Bacchelli, C;
Chanudet, E;
Waters, A;
Sisodiya, SM;
Kasperavičiūtė, D;
... Stupka, E; + view all
(2012)
Characterisation and validation of insertions and deletions in 173 patient exomes.
PLoS One
, 7
(12)
, Article e51292. 10.1371/journal.pone.0051292.
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Maria, M;
Lamers, IJC;
Schmidts, M;
Ajmal, M;
Jaffar, S;
Ullah, E;
Mustafa, B;
... Qamar, R; + view all
(2016)
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Scientific Reports
, 6
, Article 34764. 10.1038/srep34764.
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McCarthy, DJ;
Rostom, R;
Huang, Y;
Kunz, DJ;
Danecek, P;
Bonder, MJ;
Hagai, T;
... Teichmann, SA; + view all
(2020)
Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes.
Nature Methods
, 17
pp. 414-421.
10.1038/s41592-020-0766-3.
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McInerney-Leo, AM;
Schmidts, M;
Cortés, CR;
Leo, PJ;
Gener, B;
Courtney, AD;
Gardiner, B;
... Wicking, C; + view all
(2013)
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60.
Am J Hum Genet
, 93
(3)
pp. 515-523.
10.1016/j.ajhg.2013.06.022.
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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.
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Mestek-Boukhibar, L;
Clement, E;
Jones, WD;
Drury, S;
Ocaka, L;
Gagunashvili, A;
Le Quesne Stabej, P;
... Williams, HJ; + view all
(2018)
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
Journal of Medical Genetics
, 55
(11)
pp. 721-728.
10.1136/jmedgenet-2018-105396.
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Mirauta, BA;
Seaton, DD;
Bensaddek, D;
Brenes, A;
Bonder, MJ;
Kilpinen, H;
HipSci Consortium;
... Lamond, AI; + view all
(2020)
Population-scale proteome variation in human induced pluripotent stem cells.
eLife
, 9
, Article e57390. 10.7554/eLife.57390.
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Mujahid, S;
Hunt, KF;
Cheah, YS;
Forsythe, E;
Hazlehurst, JM;
Sparks, K;
Mohammed, S;
... McGowan, BM; + view all
(2018)
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.
Journal of Clinical Endocrinology & Metabolism
, 103
(5)
pp. 1834-1841.
10.1210/jc.2017-01459.
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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.
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Nazmutdinova, Katia;
Man, Cheuk Yan;
Carter, Martyn;
Beales, Philip L;
Winyard, Paul JD;
Walsh, Stephen B;
Price, Karen L;
(2024)
Cell Catcher: A New Method to Extract and Preserve Live
Renal Cells from Urine.
Kidney360
, 5
(9)
pp. 1359-1363.
10.34067/KID.0000000000000503.
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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.
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Onoufriadis, A;
Shoemark, A;
Munye, MM;
James, CT;
Schmidts, M;
Patel, M;
Rosser, EM;
... Mitchison, HM; + view all
(2013)
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Journal of Medical Genetics
10.1136/jmedgenet-2013-101938.
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Onoufriadis, A;
Shoemark, A;
Schmidts, M;
Patel, M;
Jimenez, G;
Liu, H;
Thomas, B;
... Mitchison, HM; + view all
(2014)
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects.
Hum Mol Genet
, 23
(13)
pp. 3362-3374.
10.1093/hmg/ddu046.
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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.
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Piper, CJM;
Wilkinson, MGL;
Deakin, CT;
Otto, GW;
Dowle, S;
Duurland, CL;
Adams, S;
... Marques, R; + view all
(2018)
CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.
Frontiers in Immunology
, 9
, Article 1372. 10.3389/fimmu.2018.01372.
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Renkema, KY;
Giles, RH;
Lilien, MR;
Beales, PL;
Roepman, R;
Oud, MM;
Arts, HH;
(2018)
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.
Frontiers in Pediatrics
, 6
, Article 131. 10.3389/fped.2018.00131.
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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.
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Schmidts, M;
Arts, HH;
Bongers, EM;
Yap, Z;
Oud, MM;
Antony, D;
Duijkers, L;
... Mitchison, HM; + view all
(2013)
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
, 50
(5)
309 - 323.
10.1136/jmedgenet-2012-101284.
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Schmidts, M;
Hou, Y;
Cortés, CR;
Mans, DA;
Huber, C;
Boldt, K;
Patel, M;
... Witman, GB; + view all
(2015)
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nature Communications
, 6
, Article 7074. 10.1038/ncomms8074.
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Schmidts, M;
Vodopiutz, J;
Christou-Savina, S;
Cortés, CR;
McInerney-Leo, AM;
Emes, RD;
Arts, HH;
... Mitchison, HM; + view all
(2013)
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.
The American Journal of Human Genetics
, 93
(5)
932 - 944.
10.1016/j.ajhg.2013.10.003.
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Seda, M;
Geerlings, M;
Lim, P;
Jayabalan-Srikaran, J;
Cichon, A-C;
Scambler, PJ;
Beales, PL;
... Jenkins, D; + view all
(2019)
An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.
Molecuar Syndromology
, 10
(1-2)
10.1159/000491567.
(In press).
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Selman, L;
Henriksen, ML;
Brandt, J;
Palarasah, Y;
Waters, A;
Beales, PL;
Holmskov, U;
... Hansen, S; + view all
(2012)
An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1).
Journal of Immunological Methods
, 375
(1-2)
182 - 188.
10.1016/j.jim.2011.10.010.
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Shaheen, R;
Schmidts, M;
Faqeih, E;
Hashem, A;
Lausch, E;
Holder, I;
Superti-Furga, A;
... Alkuraya, FS; + view all
(2015)
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Hum Mol Genet
, 24
(5)
1410 - 1419.
10.1093/hmg/ddu555.
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Stokman, MF;
van der Zwaag, B;
van de Kar, NCAJ;
van Haelst, MM;
van Eerde, AM;
van der Heijden, JW;
Kroes, HY;
... Lilien, MR; + view all
(2018)
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatric Nephrology
, 33
(10)
pp. 1701-1712.
10.1007/s00467-018-3958-7.
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Thompson, CL;
McFie, M;
Chapple, JP;
Beales, P;
Knight, MM;
(2021)
Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation.
International Journal of Molecular Sciences
, 22
(9)
, Article 4313. 10.3390/ijms22094313.
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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.
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Tsyklauri, O;
Niederlova, V;
Forsythe, E;
Prasai, A;
Drobek, A;
Kasparek, P;
Sparks, K;
... Stepanek, O; + view all
(2021)
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.
EMBO Reports
, 3
(2)
, Article e50785. 10.15252/embr.202050785.
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Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
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Van Dam, TJP;
Kennedy, J;
Van der Lee, R;
De Vrieze, E;
Wunderlich, KA;
Rix, S;
Dougherty, GW;
... Huynen, MA; + view all
(2019)
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLOS ONE
, 14
(5)
, Article e0216705. 10.1371/journal.pone.0216705.
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Walter, K;
Min, JL;
Huang, J;
Crooks, L;
Memari, Y;
McCarthy, S;
Perry, JRB;
... Zhang, W; + view all
(2015)
The UK10K project identifies rare variants in health and disease.
Nature
, 526
(7571)
pp. 82-90.
10.1038/nature14962.
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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2016)
Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes (vol 52, pg 147, 2015).
Journal of Medical Genetics
, 53
(12)
p. 845.
10.1136/jmedgenet-2014-102691corr1.
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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2015)
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Journal of Medical Genetics
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pp. 147-156.
10.1136/jmedgenet-2014-102691.
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Wei, W;
Tuna, S;
Keogh, MJ;
Smith, KR;
Aitman, TJ;
Beales, PL;
Bennett, DL;
... Chinnery, PF; + view all
(2019)
Germline selection shapes human mitochondrial DNA diversity.
Science
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Williams, HJ;
Hurst, JR;
Ocaka, L;
James, C;
Pao, C;
Chanudet, E;
Lescai, F;
... Beales, P; + view all
(2016)
The use of whole-exome sequencing to disentangle complex phenotypes.
European Journal of Human Genetics
, 24
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pp. 298-301.
10.1038/ejhg.2015.121.
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Yang, Y;
van der Klaauw, AA;
Zhu, L;
Cacciottolo, TM;
He, Y;
Stadler, LKJ;
Wang, C;
... Zhang, W; + view all
(2019)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Nature Communications
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, Article 1718. 10.1038/s41467-019-08737-6.
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Report
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Twigg, SR;
Lloyd, D;
Jenkins, D;
Elçioglu, NE;
Cooper, CD;
Al-Sannaa, N;
Annagür, A;
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(2012)
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
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Thesis
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Kenny, Joanna;
(2019)
Genomics and Personalised Medicine: Diagnostics, Deep Phenotyping and Pharmacogenomics in Cohorts of Rare Disease Patients.
Doctoral thesis (Ph.D), UCL (University College London).
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