Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Authors: Liu, Z. G., Xin, B. Z., Smith, I. N., Sency, V., Szekely, J., Alkelai, A., Shuldiner, A., Efthymiou, S., Rajabi, F., Coury, S., Brownstein, C. A., Rudnik-Schoeneborn, S., Bruel, A. L., Thevenon, J., Zeidler, S., Jayakar, P., Schmidt, A., Cremer, K., Engels, H., Peters, S. O., Zaki, M. S., Duan, R. Z., Zhu, Changlian, 1964, Xu, Y. R., Gao, C., Sepulveda-Morales, T., Maroofian, R., Alkhawaja, I. A., Khawaja, M., Alhalasah, H., Houlden, H., Madden, J. A., Turchetti, V., Marafi, D., Agrawal, P. B., Schatz, U., Rotenberg, A., Rotenberg, J., Mancini, G. M. S., Bakhtiari, S., Kruer, M., Thiffault, I., Hirsch, S., Hempel, M., Stuehn, L. G., Haack, T. B., Posey, J. E., Lupski, J. R., Lee, H. Y. P., Sarn, N. B., Eng, C., Gonzaga-Jauregui, C., Zhang, B., Wang, H.

Source: Human Molecular Genetics. 32(20):2981-2995

Subject Terms: Medical Genetics and Genomics, Medicinsk genetik och genomik, X-linked, protein phosphatase 1, glycogen metabolism, developmental, delay, intellectual disability, seizureautism, glycogen-targeting subunit, ectodermal dysplasia, mutations, insulin, glucose, cells, gene, g(m), ptg, Biochemistry & Molecular Biology, Genetics & Heredity

Access URL: https://gup.ub.gu.se/publication/328655

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Authors: Scala, M., Wortmann, S.B., Kaya, N., Stellingwerff, M.D., Pistorio, A., Glamuzina, E., van Karnebeek, C.D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T.B., Prokisch, H., Aldhalaan, H., Karimiani, E.G., Yildiz, Y., Ceylan, A.C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M.B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H.S., Maqbool, S., Farid, A., Al-Muhaizea, M.A., Alshwameen, M.O., Aldowsari, L., Alsagob, M., Alyousef, A., Almass, R., AlHargan, A., Alwadei, A.H., AlRasheed, M.M., Colak, D., Alqudairy, H., Khan, S., Lines, M.A., Cazorla, M., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M.P., Taylor, J.C., Alsaif, H.S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q.S., Schmitt-Mechelke, T., Ziegler, A., Issa, M.Y., Elbendary, H.M., Striano, P., Alkuraya, F.S., Zaki, M.S., Gleeson, J.G., Barakat, T.S., Bierau, J., van der Knaap, M.S., Maroofian, R., Houlden, H.

Source: Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, 'Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency', Human Mutation, vol. 43, no. 3, pp. 403-419. https://doi.org/10.1002/humu.24326
Human Mutation, 43, 3, pp. 403-419
Hum. Mutat. 43, 403-419 (2022)

Subject Terms: Exome sequencing, FOS: Computer and information sciences, 0301 basic medicine, Physiology, heart disease, white matter abnormalities, Encephalopathy, Pediatrics, Gene, Pyrophosphatases, Internal medicine, Research Articles, 0303 health sciences, ATP Synthase Function and Regulation, Life Sciences, ASSOCIATION, Prognosis, 3. Good health, Phenotype, Inosine Triphosphatase, Microcephaly, GROWTH, Medicine, ITPase, Epilepsy, Generalized, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, congenital microcephaly, developmental and epileptic encephalopathy 35, ITPA, Humans, Inosine, Inosine Triphosphate, Mutation, Lysosomal Storage Disorders in Human Health and Disease, Genotype, Bioinformatics, Enzyme Regulation, Itpa, Itpase, Congenital Microcephaly, Developmental And Epileptic Encephalopathy 35, Heart Disease, White Matter Abnormalities, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Biochemistry, Genetics and Molecular Biology, Health Sciences, Ribavirin, Genetics, NUCLEOTIDE POOLS, Molecular Biology, Biology, Epilepsy, MUTATIONS, Nucleotide Metabolism and Enzyme Regulation, FOS: Biological sciences, RETARDATION, Neuroscience

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https://pubmed.ncbi.nlm.nih.gov/34989426
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https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21458
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/283128
https://doi.org/10.1002/humu.24326
https://pure.eur.nl/en/publications/8f44f678-de01-492d-b764-468bcda6b382
https://doi.org/10.1002/humu.24326
https://research.vu.nl/en/publications/f1895b2e-8f94-4932-a37a-30cbfce24676
https://hdl.handle.net/1871.1/f1895b2e-8f94-4932-a37a-30cbfce24676
https://doi.org/10.1002/humu.24326
https://cris.maastrichtuniversity.nl/en/publications/4a65fa63-9e65-4f68-9186-ac4e7e5c9167
https://doi.org/10.1002/humu.24326
https://research.vumc.nl/en/publications/ab0f523f-283b-4ff5-9638-a2480282ed32
https://pure.amsterdamumc.nl/en/publications/0e5d7491-e119-43f8-b6ec-1f3d858b5dfe
https://doi.org/10.1002/humu.24326
https://repository.ubn.ru.nl/handle/2066/283128
https://repository.ubn.ru.nl//bitstream/handle/2066/283128/283128.pdf
https://avesis.aybu.edu.tr/publication/details/80b5dd8c-2355-4842-bc5c-81ec5bccb092/oai
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64010
https://hdl.handle.net/11567/1095864
https://doi.org/10.1002/humu.24326
https://discovery-pp.ucl.ac.uk/id/eprint/10142352/

Comparative reliability analysis of publicly available software packages for automatic intracranial volume estimation

Authors: Sargolzaei, S., Goryawala, M., Cabrerizo, M., Chen, G., Jayakar, P., Duara, R., Barker, W., Adjouadi, M.

Source: 2014 36th Annual International Conference of the IEEE Engineering in Medicine and Biology Society Engineering in Medicine and Biology Society (EMBC), 2014 36th Annual International Conference of the IEEE. :2342-2345 Aug, 2014

Relation: 2014 36th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)

Early vagus nerve stimulator implantation as a main predictor of positive outcome in pediatric patients with epileptic encephalopathy

Authors: Russo A., Hyslop A., Gentile V., Boni A., Miller I., Chiarello D., Pellino G., Zenesini C., Martinoni M., Lima M., Ragheb J., Cordelli D. M., Pini A., Jayakar P., Duchowny M.

Source: Epileptic Disorders. 23:563-571

Subject Terms: Adolescent, Vagus Nerve Stimulation, outcome predictors, epileptic encephalopathies, vagus nerve stimulation, Vagus Nerve, 3. Good health, 03 medical and health sciences, Treatment Outcome, 0302 clinical medicine, Seizures, Quality of Life, Humans, Epilepsy, Generalized, Child, 10. No inequality, Retrospective Studies

Access URL: https://pubmed.ncbi.nlm.nih.gov/34184987
https://hdl.handle.net/11585/830907
https://doi.org/10.1684/epd.2021.1299

Application of the Walsh Transform in an integrated algoritm for the detection of interictal spikes

Authors: Sanchez, D., Adjouadi, M., Barreto, A., Jayakar, P., Yaylali, I.

Source: 2001 Conference Proceedings of the 23rd Annual International Conference of the IEEE Engineering in Medicine and Biology Society Engineering in medicine and biology Engineering in Medicine and Biology Society, 2001. Proceedings of the 23rd Annual International Conference of the IEEE. 1:939-942 vol.1 2001

Relation: 2001 Conference Proceedings of the 23rd Annual International Conference of the IEEE Engineering n Medicine and Biology Society

Interictal spike detection using the Walsh transform

Authors: Adjouadi, M., Sanchez, D., Cabrerizo, M., Ayala, M., Jayakar, P., Yaylali, I., Barreto, A.

Source: IEEE Transactions on Biomedical Engineering IEEE Trans. Biomed. Eng. Biomedical Engineering, IEEE Transactions on. 51(5):868-872 May, 2004

Interpreting EEG functional brain activity

Authors: Adjouadi, M., Cabrerizo, M., Yaylali, I., Jayakar, P.

Source: IEEE Potentials Potentials, IEEE. 23(1):8-13 Jan, 2004

Detection of seizures from small samples using nonlinear dynamic system theory

Authors: Yaylali, I., Kocak, H., Jayakar, P.

Source: IEEE Transactions on Biomedical Engineering IEEE Trans. Biomed. Eng. Biomedical Engineering, IEEE Transactions on. 43(7):743-751 Jul, 1996

Epilepsy surgery near or in eloquent cortex in children—Practice patterns and recommendations for minimizing and reporting deficits

Authors: Jayakar, P, Jayakar, A, Libenson, M, Arzimanoglou, A, Rydenhag, B, Cross, JH, Bhatia, S, Tassi, L, Lachhwani, D, Gaillard, WD

Source: Epilepsia. 59:1484-1491

Subject Terms: Cerebral Cortex, Male, Epilepsy, epilepsy surgery strategies, critical cortex, Magnetic Resonance Imaging, deficit scale, Neurosurgical Procedures, 03 medical and health sciences, Neurosurgeons, 0302 clinical medicine, Child, Preschool, Surveys and Questionnaires, Humans, Female, Child, epileptogenic zone

Access URL: https://discovery.ucl.ac.uk/10059070/1/Cross_Epilepsy%20surgery%20near%20or%20in%20eloquent%20cortex%20in%20children_AAM.pdf
https://pubmed.ncbi.nlm.nih.gov/30033517
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.14510
https://www.ncbi.nlm.nih.gov/pubmed/30033517
https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/2850/
https://onlinelibrary.wiley.com/doi/full/10.1111/epi.14510
http://europepmc.org/abstract/MED/30033517
https://discovery-pp.ucl.ac.uk/id/eprint/10059070/

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Authors: Neuser, S, Brechmann, B, Heimer, G, Brösse, I, Schubert, S, O'Grady, L, Zech, M, Srivastava, S, Sweetser, DA, Dincer, Y, Mall, V, Winkelmann, J, Behrends, C, Darras, BT, Graham, RJ, Jayakar, P, Byrne, B, Bar-Aluma, BE, Haberman, Y, Szeinberg, A, Aldhalaan, HM, Hashem, M, Al Tenaiji, A, Ismayl, O, Al Nuaimi, AE, Maher, K, Ibrahim, S, Khan, F, Houlden, H, Ramakumaran, VS, Pagnamenta, AT, Posey, JE, Lupski, JR, Tan, W-H, ElGhazali, G, Herman, I, Muñoz, T, Repetto, GM, Seitz, A, Krumbiegel, M, Poli, MC, Kini, U, Efthymiou, S, Meiler, J, Maroofian, R, Alkuraya, FS, Abou Jamra, R, Popp, B, Ben-Zeev, B, Ebrahimi-Fakhari, D

Source: Human Mutation (2021) (In press).

Subject Terms: Human Phenotype Ontology, TECPR2, neurodevelopmental disorder, sensory autonomic neuropathy, spastic paraplegia

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Relation: https://discovery.ucl.ac.uk/id/eprint/10127587/7/Houlden_humu.24206_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10127587/

Availability: https://discovery.ucl.ac.uk/id/eprint/10127587/7/Houlden_humu.24206_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10127587/

National Responses to International Satellite Television.

Authors: Jayakar, Krishna P.

Peer Reviewed: N

Page Count: 20

Descriptors: Advertising, Audience Response, Broadcast Television, Business, Cable Television, Case Studies, Communications Satellites, Foreign Countries, Government Role, International Law, Legislation, Problems

Geographic Terms: Asia, India

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Authors: Minatogawa, M., Unzaki, A., Morisaki, H., Syx, D., Sonoda, T., Janecke, A.R., Slavotinek, A., Voermans, N.C., Lacassie, Y., Mendoza-Londono, R., Wierenga, K.J., Jayakar, P., Gahl, W.A., Tifft, C.J., Figuera, L.E., Hilhorst-Hofstee, Y., Maugeri, A., Ishikawa, K., Kobayashi, T., Aoki, Y., Ohura, T., Kawame, H., Kono, M., Mochida, K., Tokorodani, C., Kikkawa, K., Morisaki, T., Nakane, T., Kubo, A., Ranells, J.D., Migita, O., Sobey, G., Kaur, A., Ishikawa, M., Yamaguchi, T., Matsumoto, N., Malfait, F., Miyake, N., Kosho, T.

Subject Terms: musculoskeletal diseases, human genetics

File Description: application/pdf

Access URL: https://hdl.handle.net/1887/3270974

Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force

Authors: Gaillard, WD, Jette, N, Arnold, ST, Arzimanoglou, A, Braun, KPJ, Cukiert, A, Dick, A, Harvey, AS, Jacobs, J, Rydenhag, B, Udani, V, Wilmshurst, JM, Cross, JH, Jayakar, P

Source: Epilepsia , 61 (12) pp. 2629-2642. (2020)

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Relation: https://discovery.ucl.ac.uk/id/eprint/10118857/3/Cross_Main%20Document%20epilepsy%20surgery.pdf; https://discovery.ucl.ac.uk/id/eprint/10118857/

Availability: https://discovery.ucl.ac.uk/id/eprint/10118857/3/Cross_Main%20Document%20epilepsy%20surgery.pdf
https://discovery.ucl.ac.uk/id/eprint/10118857/

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum

Authors: Pingault, V., Neiva-Vaz, C., Oliveira, J. de, Martínez-Gil, N., Lasa-Aranzasti, A., Campos, B., Lakeman, I.M.M., Nibbeling, E.A.R., Stoeva, R., Jayakar, P., Dabir, T., Elloumi, H.Z., Strong, A., Hanein, S., Picard, A., Ochsenbein, F., Blanc, P., Amiel, J.

Source: European Journal of Human Genetics

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Relation: https://hdl.handle.net/1887/4180324

Availability: https://hdl.handle.net/1887/4180324
https://www.nature.com/articles/s41431-024-01698-5
https://doi.org/10.1038/s41431-024-01698-5

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Authors: Picketts, D., Mirzaa, G., Yan, K., Relator, R., Timpano, S., Yalcin, B., Collins, S., Ziegler, A., Pao, E., Oyama, N., Brischoux-Boucher, E., Piard, J., Monaghan, K., Sacoto, M. G., Dobyns, W., Park, K., Fernández-Mayoralas, D., Fernández-Jaén, A., Jayakar, P., Brusco, A., Antona, V., Giorgio, E., Kvarnung, M., Isidor, B., Conrad, S., Cogné, B., Deb, W., Stuurman, K. E., Sterbova, K., Smal, N., Weckhuysen, S., Oegema, R., Innes, M., Latsko, M., Ben-Omran, T., Yeh, R., Kruer, M., Bakhtiari, S., Papavasiliou, A., Moutton, S., Nambot, S., Chanprasert, S., Paolucci, S., Miller, K., Burton, B., Kim, K., O'Heir, E., Bruwer, Z., Donald, K., Kleefstra, T., Goldstein, A., Angle, B., Bontempo, K., Miny, P., Joset, P., Demurger, F., Hobson, E., Pang, L., Carpenter, L., Li, D., Bonneau, D., Sadikovic, B.

Subject Terms: NURF complex, Smarca1, brain overgrowth, epigenetics, exome sequencing, competing financial interests

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/37841849/; Research square; PMC10571636; https://hdl.handle.net/11287/623061

Availability: https://hdl.handle.net/11287/623061
https://doi.org/10.21203/rs.3.rs-3317938/v1

Malformations of Cortical Development and Epilepsy in Children

Authors: Luna, B., primary, Felty, Q., additional, Roy, D., additional, Bhatia, S., additional, Ragheb, J., additional, Miller, I., additional, Jayakar, P., additional

Source: Encyclopedia of Environmental Health. 2019/01/01

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Authors: Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT

Source: GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Subject Terms: craniofacial development, patent ductus arteriosus, TRAF7, intellectual disability, blepharophimosis

Access URL: http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718
https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718
https://www.sciencedirect.com/science/article/pii/S1098360021011874?via=ihub

Distinctive MRI features of the epileptogenic zone in children with tuberous sclerosis

Authors: Jahodova, A. ^a, Krsek, P. ^a, Kyncl, M. ^{b, 1}, Jezdik, P. ^{c, 2}, Kudr, M. ^a, Komarek, V. ^a, Jayakar, P. ^d, Miller, I. ^d, Resnick, T. ^{d, e}, Duchowny, M. ^{d, e, ⁎}

Source: In European Journal of Radiology April 2014 83(4):703-709

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Authors: Dijck, A. van, Vulto-van Silfhout, A.T., Cappuyns, E., Werf, I.M. van der, Mancini, G.M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E.E., Romano, C., Lindstrand, A., Nordgren, A., Kvarnung, M., Kleefstra, T., Vries, B.B.A. de, Kury, S., Rosenfeld, J.A., Meuwissen, M.E., Vandeweyer, G., Kooy, R.F., Bakshi, M., Wilson, M., Berman, Y., Dickson, R., Fransen, E., Helsmoortel, C., Ende, J. van den, Aa, N. van der, Wijdeven, M.J. van de, Rosenblum, J., Monteiro, F., Kok, F., Quercia, N., Bowdin, S., Dyment, D., Chitayat, D., Alkhunaizi, E., Boonen, S.E., Keren, B., Jacquette, A., Faivre, L., Bezieau, S., Isidor, B., Riess, A., Moog, U., Lynch, S.A., McVeigh, T., Elpeleg, O., Smeland, M.F., Fannemel, M., Haeringen, A. van, Maas, S.M., Veenstra-Knol, H.E., Schouten, M., Willemsen, M.H., Marcelis, C.L., Ockeloen, C., Burgt, I. van der, Feenstra, I., Smagt, J. van der, Jezela-Stanek, A., Krajewska-Walasek, M., Gonzalez-Lamuno, D., Anderlid, B.M., Malmgren, H., Nordenskjold, M., Clement, E., Hurst, J., Metcalfe, K., Mansour, S., Lachlan, K., Clayton-Smith, J., Hendon, L.G., Abdulrahman, O.A., Morrow, E., McMillan, C., Gerdts, J., Peeden, J., Vergano, S.A.S., Valentino, C., Chung, W.K., Ozmore, J.R., Bedrosian-Sermone, S., Dennis, A., Treat, K., Hughes, S.S., Safina, N., Pichon, J.B. le, McGuire, M., Infante, E., Madan-Khetarpal, S., Desai, S., Benke, P., Krokosky, A., Cristian, I., Baker, L., Gripp, K., Stessman, H.A., Eichenberger, J., Jayakar, P., Pizzino, A., Manning, M.A., Slattery, L., ADNP Consortium

Subject Terms: Neurodevelopmental disorder, Autism, Helsmoortel-Van der Aa syndrome, Genetics, Intellectual disability, ADNP

Access URL: https://hdl.handle.net/1887/122773

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Authors: Cheng, H, Dharmadhikari, AV, Varland, S, Ma, N, Domingo, D, Kleyner, R, Rope, AF, Yoon, M, Stray-Pedersen, A, Posey, JE, Crews, SR, Eldomery, MK, Akdemir, ZC, Lewis, AM, Sutton, VR, Rosenfeld, JA, Conboy, E, Agre, K, Xia, F, Walkiewicz, M, Longoni, M, High, FA, van Slegtenhorst, MA, Mancini, GMS, Finnila, CR, van Haeringen, A, den Hollander, N, Ruivenkamp, C, Naidu, S, Mahida, S, Palmer, EE, Murray, L, Lim, D, Jayakar, P, Parker, MJ, Giusto, S, Stracuzzi, E, Romano, C, Beighley, JS, Bernier, RA, Küry, S, Nizon, M, Corbett, MA, Shaw, M, Gardner, A, Barnett, C, Armstrong, R, Kassahn, KS, Van Dijck, A, Vandeweyer, G, Kleefstra, T, Schieving, J, Jongmans, MJ, de Vries, BBA, Pfundt, R, Kerr, B, Rojas, SK, Boycott, KM, Person, R, Willaert, R, Eichler, EE, Kooy, RF, Yang, Y, Wu, JC, Lupski, JR, Arnesen, T, Cooper, GM, Chung, WK, Gecz, J, Stessman, HAF, Meng, L, Lyon, GJ, Palmer, Elizabeth

Source: urn:ISSN:0002-9297 ; urn:ISSN:1537-6605 ; American Journal of Human Genetics, 102, 5, 985-994

Subject Terms: 31 Biological Sciences, 3102 Bioinformatics and Computational Biology, 32 Biomedical and Clinical Sciences, 3105 Genetics, Clinical Research, Human Genome, Rare Diseases, Genetics, Brain Disorders, Congenital Structural Anomalies, Pediatric, Autism, Mental Health, Intellectual and Developmental Disabilities (IDD), Biotechnology, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Abnormalities, Multiple, Adolescent, Adult, Autism Spectrum Disorder, Cell Line, Child, Exons, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genetic Variation, Humans

File Description: application/pdf

Relation: https://hdl.handle.net/1959.4/unsworks_61912; https://doi.org/10.1016/j.ajhg.2018.03.004

Availability: https://hdl.handle.net/1959.4/unsworks_61912
https://unsworks.unsw.edu.au/bitstreams/28630ebc-7263-4783-bd7f-0782492d3e58/download
https://doi.org/10.1016/j.ajhg.2018.03.004