المؤلفون: Khalaf-Nazzal, R., Fasham, J., Inskeep, K. A., Blizzard, L. E., Leslie, J. S., Wakeling, M. N., Ubeyratna, N., Mitani, T., Griffith, J. L., Baker, W., Al-Hijawi, F., Keough, K. C., Gezdirici, A., Pena, L., Spaeth, C. G., Turnpenny, P. D., Walsh, J. R., Ray, R., Neilson, A., Kouranova, E., Cui, X., Curiel, D. T., Pehlivan, D., Akdemir, Z. C., Posey, J. E., Lupski, J. R., Dobyns, W. B., Stottmann, R. W., Crosby, A. H., Baple, E. L.

مصطلحات موضوعية: Humans, Animals, Mice, Lissencephaly/genetics, Alleles, Tubulin/genetics, Phenotype, Nervous System Malformations/genetics, Classical Lissencephalies and Subcortical Band Heterotopias/genetics, Knockout, Microtubule-Associated Proteins/genetics, Mark2, agyria, autosomal recessive, lissencephaly, neurodevelopmental disorder, pachygyria, patronin, tubulinopathy

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(22)00415-3; Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi:10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.; https://rde.dspace-express.com/handle/11287/622694; American journal of human genetics; PMC9674946

الاتاحة: https://doi.org/10.1016/j.ajhg.2022.09.012
https://rde.dspace-express.com/handle/11287/622694

المؤلفون: Laver, T. W., Wakeling, M. N., Knox, O., Colclough, K., Wright, C. F., Ellard, S., Hattersley, A. T., Weedon, M. N., Patel, K. A.

Relation: Diabetes. 2022 Feb 2:db210844. doi:10.2337/db21-0844.; https://rde.dspace-express.com/handle/11287/622456; Diabetes

الاتاحة: https://doi.org/10.2337/db21-0844
https://rde.dspace-express.com/handle/11287/622456

المؤلفون: Männistö, J. M. E., Hopkins, J. J., Hewat, T. I., Nasser, F., Burrage, J., Dastamani, A., Mirante, A., Murphy, N., Rzasa, J., Kerkhof, J., Relator, R., Johnson, M. B., Laver, T. W., Weymouth, L., Houghton, J. A. L., Wakeling, M. N., Sadikovic, B., Dempster, E. L., Flanagan, S. E.

المساهمون: Exeter Genomics Laboratory, Houghton, Jayne A L

مصطلحات موضوعية: Kdm6a, DNA methylation, Kabuki syndrome, congenital hyperinsulinism, episignature, whole genome sequencing

Relation: The Journal of clinical endocrinology and metabolism; https://hdl.handle.net/11287/623378

الاتاحة: https://hdl.handle.net/11287/623378
https://doi.org/10.1210/clinem/dgae524

المؤلفون: De Franco, E., Owens, N. D. L., Montaser, H., Wakeling, M. N., Saarimäki-Vire, J., Triantou, A., Ibrahim, H., Balboa, D., Caswell, R. C., Jennings, R. E., Kvist, J. A., Johnson, M. B., Muralidharan, S., Ellard, S., Wright, C. F., Maddirevula, S., Alkuraya, F. S., Hanley, N. A., Flanagan, S. E., Otonkoski, T., Hattersley, A. T., Imbeault, M.

Relation: https://doi.org/10.1038/s41588-023-01565-x; De Franco E, Owens NDL, Montaser H, Wakeling MN, Saarimäki-Vire J, Triantou A, et al. Primate-specific ZNF808 is essential for pancreatic development in humans. Nat Genet. 2023.; Nature genetics; https://hdl.handle.net/11287/623104

الاتاحة: https://hdl.handle.net/11287/623104
https://doi.org/10.1038/s41588-023-01565-x

المؤلفون: Laver, T. W., Wakeling, M. N., Caswell, R. C., Bunce, B., Yau, D., Männistö, J. M. E., Houghton, J. A. L., Hopkins, J. J., Weedon, M. N., Saraff, V., Kershaw, M., Honey, E. M., Murphy, N., Giri, D., Nath, S., Tangari Saredo, A., Banerjee, I., Hussain, K., Owens, N. D. L., Flanagan, S. E.

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38605124/; Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, et al. Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG. 2024.; European journal of human genetics; https://hdl.handle.net/11287/623292

الاتاحة: https://hdl.handle.net/11287/623292
https://doi.org/10.1038/s41431-024-01593-z

المؤلفون: Johnson, M. B., Ogishi, M., Domingo-Vila, C., De Franco, E., Wakeling, M. N., Imane, Z., Resnick, B., Williams, E., Galão, R. P., Caswell, R., Russ-Silsby, J., Seeleuthner, Y., Rinchai, D., Fagniez, I., Benson, B., Dufort, M. J., Speake, C., Smithmyer, M. E., Hudson, M., Dobbs, R., Quandt, Z., Hattersley, A. T., Zhang, P., Boisson-Dupuis, S., Anderson, M. S., Casanova, J. L., Tree, T. I., Oram, R. A.

مصطلحات موضوعية: Child, Preschool, Humans, Infant, Newborn, Autoimmunity, B7-H1 Antigen/deficiency/genetics/immunology, Diabetes Mellitus, Type 1/genetics/immunology, Homozygote, Programmed Cell Death 1 Receptor/deficiency/genetics/immunology

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38634869/; Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, et al. Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine. 2024;221(6).; The Journal of experimental medicine; PMC11032109 GentiBio outside the submitted work. M.S. Anderson reported other from Merck, Inc. outside the submitted work. R.A. Oram reported grants from Randox, and personal fees from Sanofi, Provention Bio, and Janssen outside the submitted work; and that Randox are licensing knowhow relating to T1D polygenic scores from the University of Exeter. No other disclosures were reported.; https://hdl.handle.net/11287/623330

الاتاحة: https://hdl.handle.net/11287/623330
https://doi.org/10.1084/jem.20231704

المؤلفون: De Franco, Elisa, Wakeling, M. N., Ellard, Sian, Hattersley, Andrew T., Patel, Kashyap, Laver, T. W., Johnson, M. B., Flanagan, Sarah

مصطلحات موضوعية: Cell Biology, Cell stress, Diabetes, Genetics, Human stem cells, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: https://doi.org/10.1172/JCI141455; De Franco E et al. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. J Clin Invest. 2020 Dec 1;130(12):6338-6353.; https://rde.dspace-express.com/handle/11287/621790; The Journal of Clinical Invesitigation; PMC7685733

الاتاحة: https://doi.org/10.1172/JCI141455
https://rde.dspace-express.com/handle/11287/621790

المؤلفون: Laver, T. W., Caswell, R., Wakeling, M. N., Weedon, M. N., Ellard, Sian, Flanagan, Sarah

مصطلحات موضوعية: Chromosome 9p, Deletions, Hyperinsulinism, Hypoglycaemia

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/32832699/; Banerjee I et al. Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. Wellcome Open Res. 2020 Aug 4;4:149.; https://rde.dspace-express.com/handle/11287/621686; Wellcome Open Research; PMC7422856

الاتاحة: https://doi.org/10.12688/wellcomeopenres.15465.2
https://rde.dspace-express.com/handle/11287/621686

المؤلفون: Yaghootkar, H., Abbasi, F., Ghaemi, N., Rabbani, A., Wakeling, M. N., Eshraghi, P., Enayati, S., Vakili, S., Heidari, S., Patel, K., Sayarifard, F., Borhan‐Dayani, S., McDonald, T. J., Ellard, S., Hattersley, A. T., Amoli, M. M., Vakili, R., Colclough, K.

المساهمون: Wellcome Trust, Diabetes UK

المصدر: Diabetic Medicine ; volume 36, issue 12, page 1694-1702 ; ISSN 0742-3071 1464-5491

الاتاحة: http://dx.doi.org/10.1111/dme.14071
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fdme.14071
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dme.14071
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/dme.14071

المؤلفون: Fasham, J., Huebner, A. K., Liebmann, L., Khalaf-Nazzal, R., Maroofian, R., Kryeziu, N., Wortmann, S. B., Leslie, J. S., Ubeyratna, N., Mancini, G. M. S., van Slegtenhorst, M., Wilke, M., Haack, T. B., Shamseldin, H., Gleeson, J. G., Almuhaizea, M., Dweikat, I., Abu-Libdeh, B., Daana, M., Zaki, M. S., Wakeling, M. N., McGavin, L., Turnpenny, P. D., Alkuraya, F. S., Houlden, H., Schlattmann, P., Kaila, K., Crosby, A. H., Baple, E. L., Hübner, C. A.

مصطلحات موضوعية: Nbcn2, Ncbe, acid-base, gamma aminobutyric acid, intellectual disability

Relation: Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, et al. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain : a journal of neurology. 2023.; Brain : a journal of neurology; https://hdl.handle.net/11287/622913

الاتاحة: https://hdl.handle.net/11287/622913
https://doi.org/10.1093/brain/awad235

المؤلفون: Wakeling, M. N., Owens, N. D. L., Hopkinson, J. R., Johnson, M. B., Houghton, J. A. L., Dastamani, A., Flaxman, C. S., Wyatt, R. C., Hewat, T. I., Hopkins, J. J., Laver, T. W., van Heugten, R., Weedon, M. N., De Franco, E., Patel, K. A., Ellard, S., Morgan, N. G., Cheesman, E., Banerjee, I., Hattersley, A. T., Dunne, M. J., Richardson, S. J., Flanagan, S. E.

مصطلحات موضوعية: Humans, Hexokinase/genetics/metabolism, Congenital Hyperinsulinism/genetics/metabolism, Insulin Secretion, Insulin-Secreting Cells/metabolism, Regulatory Sequences, Nucleic Acid/genetics

Relation: https://doi.org/10.1038/s41588-022-01204-x; Nat Genet. 2022 Nov;54(11):1615-1620. doi:10.1038/s41588-022-01204-x. Epub 2022 Nov 4.; Nature genetics; https://hdl.handle.net/11287/622754

الاتاحة: https://hdl.handle.net/11287/622754
https://doi.org/10.1038/s41588-022-01204-x

المؤلفون: Laver, T. W., Wakeling, M. N., Hua, J. H.Y., Houghton, Jayne A. L., Hussain, K., Ellard, Sian, Flanagan, S. E.

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: https://doi.org/10.1111/cen.13841; Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. 2018 Nov;89(5):621-627 Clin. Endocrinol. (Oxf); http://hdl.handle.net/11287/620864; Clinical endocrinology

الاتاحة: http://hdl.handle.net/11287/620864
https://doi.org/10.1111/cen.13841

المؤلفون: Wakeling, M. N., Laver, T. W., Wright, C. F., De Franco, Elisa, Stals, Karen, Patch, A-M, Hattersley, Andrew T., Flanagan, S. E., Ellard, Sian

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: http://dx.doi.org/10.1038/s41436-018-0281-4; Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. 2019 Apr;21(4):982-986 Epub 2018 Oct 3. Genet. Med.; Genetics in medicine : official journal of the American College of Medical Genetics; http://hdl.handle.net/11287/620883

الاتاحة: http://hdl.handle.net/11287/620883
https://doi.org/10.1038/s41436-018-0281-4

المؤلفون: Stals, Karen, Wakeling, M. N., Baptista, Júlia, Caswell, R., Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C, Lango-Allen, H., Bradley, L., Brady, A. F., Carley, H., Carmichael, J. A., Castle, B., Cilliers, D., Cox, H., Deshpande, C., Dixit, A., Eason, J., Elmslie, F., Fry, A. E., Fryer, A., Holder, M., Homfray, T., Kivuva, Emma, McKay, V., Newbury-Ecob, R., Parker, Michael, Savarirayan, Ravi, Searle, C., Shannon, N., Shears, D., Smithson, S., Thomas, E., Turnpenny, Peter D., Varghese, V., Vasudevan, P., Wakeling, E., Baple, E. L., Ellard, Sian

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: http://dx.doi.org/10.1002/pd.5175; Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. 2018 Jan;38(1):33-43. Epub 2017 Dec 3. Prenat. Diagn.; http://hdl.handle.net/11287/620517; Prenatal diagnosis

الاتاحة: http://hdl.handle.net/11287/620517
https://doi.org/10.1002/pd.5175