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The photopic negative response in autism spectrum disorder.
Constable PA, Lee IO, Marmolejo-Ramos F, Skuse DH, Thompson DA. Constable PA, et al. Among authors: lee io. Clin Exp Optom. 2021 Nov;104(8):841-847. doi: 10.1080/08164622.2021.1903808. Epub 2021 Apr 7. Clin Exp Optom. 2021. PMID: 33826873 Free article.
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.
Curran S, Bolton P, Rozsnyai K, Chiocchetti A, Klauck SM, Duketis E, Poustka F, Schlitt S, Freitag CM, Lee I, Muglia P; ITAN; Poot M, Staal W, de Jonge MV, Ophoff RA, Lewis C, Skuse D, Mandy W, Vassos E, Fossdal R, Magnusson P, Hreidarsson S, Saemundsen E, Stefansson H, Stefansson K, Collier D. Curran S, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Sep;156B(6):633-9. doi: 10.1002/ajmg.b.31201. Epub 2011 Jun 8. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21656903
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K; Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. Schmidts M, et al. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Nat Commun. 2015. PMID: 26044572 Free PMC article.
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium. Hendricks AE, et al. Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8. Sci Rep. 2017. PMID: 28663568 Free PMC article.
Evaluating social (pragmatic) communication disorder.
Mandy W, Wang A, Lee I, Skuse D. Mandy W, et al. J Child Psychol Psychiatry. 2017 Oct;58(10):1166-1175. doi: 10.1111/jcpp.12785. Epub 2017 Jul 25. J Child Psychol Psychiatry. 2017. PMID: 28741680
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium; Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Haworth S, et al. Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x. Nat Commun. 2019. PMID: 30664637 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder.
Constable PA, Ritvo ER, Ritvo AR, Lee IO, McNair ML, Stahl D, Sowden J, Quinn S, Skuse DH, Thompson DA, McPartland JC. Constable PA, et al. Among authors: lee io. J Autism Dev Disord. 2020 Aug;50(8):2874-2885. doi: 10.1007/s10803-020-04396-5. J Autism Dev Disord. 2020. PMID: 32034650
Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals.
Adhya D, Swarup V, Nagy R, Dutan L, Shum C, Valencia-Alarcón EP, Jozwik KM, Mendez MA, Horder J, Loth E, Nowosiad P, Lee I, Skuse D, Flinter FA, Murphy D, McAlonan G, Geschwind DH, Price J, Carroll J, Srivastava DP, Baron-Cohen S. Adhya D, et al. Biol Psychiatry. 2021 Mar 1;89(5):486-496. doi: 10.1016/j.biopsych.2020.06.014. Epub 2020 Jun 23. Biol Psychiatry. 2021. PMID: 32826066 Free PMC article.
113 results