المؤلفون: Danecek, Petr, Gardner, Eugene J., Fitzgerald, Tomas W., Gallone, Giuseppe, Kaplanis, Joanna, Eberhardt, Ruth Y., Wright, Caroline F., Firth, Helen V., Hurles, Matthew E.

المصدر: In Genetics in Medicine Open 2024 2

المؤلفون: Soskic, Blagoje^{Aff1, Aff2}, Cano-Gamez, Eddie^{Aff1, Aff2}, Smyth, Deborah J., Ambridge, Kirsty, Ke, Ziying, Matte, Julie C., Bossini-Castillo, Lara, Kaplanis, Joanna^{Aff1, Aff2}, Ramirez-Navarro, Lucia, Lorenc, Anna, Nakic, Nikolina, Esparza-Gordillo, Jorge, Rowan, Wendy, Wille, David, Tough, David F., Bronson, Paola G., Trynka, Gosia^{Aff1, Aff2, IDs41588022010663_cor17}

المصدر: Nature Genetics. 54(6):817-826

المؤلفون: Kaplanis, Joanna, Ide, Benjamin, Sanghvi, Rashesh, Neville, Matthew, Danecek, Petr, Coorens, Tim, Prigmore, Elena, Short, Patrick, Gallone, Giuseppe, McRae, Jeremy, Carmichael, Jenny, Barnicoat, Angela, Firth, Helen^{Aff1, Aff3}, O’Brien, Patrick, Rahbari, Raheleh, Hurles, Matthew^{Aff1, IDs41586022047122_cor17}

المصدر: Nature: International weekly journal of science. 605(7910):503-508

المؤلفون: O’Donnell-Luria, Anne H, Pais, Lynn S, Faundes, Víctor, Wood, Jordan C, Sveden, Abigail, Luria, Victor, Jamra, Rami Abou, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A, Bianchini, Claudia, Bird, Lynne M, Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Study, Deciphering Developmental Disorders, McRae, Jeremy F, Clayton, Stephen, Fitzgerald, Tomas W, Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D, King, Daniel, Krishnappa, Netravathi, Mason, Laura E, Singh, Tarjinder, Tivey, Adrian R, Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J, Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N, Connell, Fiona, Cooper, Nicola, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Autism, Neurosciences, Brain Disorders, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Clinical Research, Epilepsy, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Variation, Haploinsufficiency, Heterozygote, Humans, Infant, Male, Neurodevelopmental Disorders, Pedigree, Phenotype, Young Adult, Deciphering Developmental Disorders (DDD) Study, H3K4 methylation, KMT2E, autism, epilepsy, epileptic encephalopathy, global developmental delay, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5jj1c7fw

المؤلفون: Kaplanis, Joanna, Gordon, Assaf, Shor, Tal, Weissbrod, Omer, Geiger, Dan, Wahl, Mary, Gershovits, Michael, Markus, Barak, Sheikh, Mona, Gymrek, Melissa, Bhatia, Gaurav, MacArthur, Daniel G, Price, Alkes L, Erlich, Yaniv

المصدر: Science. 360(6385)

مصطلحات موضوعية: Genetics, Generic health relevance, Datasets as Topic, Family, Genealogy and Heraldry, Humans, Longevity, Models, Genetic, Pedigree, Population, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5f06f036

المؤلفون: Deciphering Developmental Disorders Study, Martin, Hilary C., Jones, Wendy D., McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D., Jones, Carla P., Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F., Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J., Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S., Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G., Morton, Jenny, Parker, Michael J., Splitt, Miranda, Turnpenny, Peter D., Vasudevan, Pradeep C., Wright, Michael, Bassett, Andrew, Gerety, Sebastian S., Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Barrett, Jeffrey C.

المصدر: Science, 2018 Dec 01. 362(6419), 1161-1164.

URL الوصول: https://www.jstor.org/stable/26569195

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المؤلفون: Lindsay, Sarah J., Rahbari, Raheleh, Kaplanis, Joanna, Keane, Thomas, Hurles, Matthew E.^Aff1

المصدر: Nature Communications. 10(1)

المؤلفون: Wright, Caroline F, Campbell, Patrick, Eberhardt, Ruth Y., Aitken, Stuart, Perrett, Daniel, Brent, Simon, Danecek, Petr, Gardner, Eugene J., Chundru, V Kartik, Lindsay, Sarah J, Andrews, Katrina A, Hampstead, Juliet, Kaplanis, Joanna, Samocha, Kaitlin E., Middleton, Anna, Foreman, Julia, Hobson, Rachel J., Parker, Michael J., Martin, Hilary C, FitzPatrick, David R, Hurles, Matthew E, Firth, Helen V.

المصدر: Wright, C F, Campbell, P, Eberhardt, R Y, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, E J, Chundru, V K, Lindsay, S J, Andrews, K A, Hampstead, J, Kaplanis, J, Samocha, K E, Middleton, A, Foreman, J, Hobson, R J, Parker, M J, Martin, H C, FitzPatrick, D R, Hurles, M E & Firth, H V 2023, ' Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland ', New England Journal of Medicine .

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3094::82a946077b9d08839b0fbf99e61deb33
https://hdl.handle.net/20.500.11820/d084f6cb-646e-47f8-a4d7-829582d2b1b5

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