المؤلفون: Alanna Strong, Hui‐Qi Qu, Sinéad Cullina, Morgan L. McManus, Elaine H. Zackai, Joseph Glessner, Eimear E. Kenny, Hakon Hakonarson

المصدر: American Journal of Medical Genetics Part A.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6b743127408d33e784e7c374be43caa2
https://doi.org/10.1002/ajmg.a.63303

المؤلفون: Ian M, Campbell, T Blaine, Crowley, Beth, Keena, Sarah, Donoghue, Morgan L, McManus, Elaine H, Zackai

المصدر: American Journal of Medical Genetics Part A. 188:3416-3422

مصطلحات موضوعية: Physicians, Genetics, Humans, COVID-19, Child, Pandemics, Telemedicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbbbf8ba4364e4f4326821c1abf040e8
https://doi.org/10.1002/ajmg.a.62920

المؤلفون: Mandi Liu, Christopher L. Smith, David M. Biko, Dong Li, Erin Pinto, Nora O’Connor, Cara Skraban, Elaine H. Zackai, Hakon Hakonarson, Yoav Dori, Sarah E. Sheppard

المصدر: European Journal of Human Genetics. 30:1022-1028

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8acfeacf5ec134ce55a27dbafc2ac9bd
https://doi.org/10.1038/s41431-022-01123-9

المؤلفون: Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska

المصدر: Genes; Volume 14; Issue 3; Pages: 680

مصطلحات موضوعية: 22q11.2DS, genomic disorder, copy number variation, CNV, single nucleotide variant, SNV, array, exome sequencing, Genetics, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b575ffeee0fdefc1ded58b857c397cdc

المؤلفون: Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA Klinische Genetica (5), Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Snijders Blok, L, Verseput, J, Rots, D, Venselaar, H, Innes, A M, Stumpel, C, Õunap, K, Reinson, K, Seaby, E G, McKee, S, Burton, B, Kim, K, van Hagen, J M, Waisfisz, Q, Joset, P, Steindl, K, Rauch, A, Li, D, Zackai, E H, Sheppard, S E, Keena, B, Hakonarson, H, Roos, A, Kohlschmidt, N, Cereda, A, Iascone, M, Rebessi, E, Kernohan, K D, Campeau, P M, Millan, F, Taylor, J A, Lochmüller, H, Higgs, M R, Goula, A, Bernhard, B, Velasco, D J, Schmanski, A A, Stark, Z, Gallacher, L, Pais, L, Marcogliese, P C, Yamamoto, S, Raun, N, Jakub, T E, Kramer, J M, den Hoed, J, Fisher, S E, Brunner, H G & Kleefstra, T 2023, ' A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder ', Human Genetics and Genomics Advances, vol. 4, no. 1, 100157 . https://doi.org/10.1016/j.xhgg.2022.100157
Human Genetics and Genomics Advances
HGG advances, 4(1):100157. Cell Press
Human Genetics and Genomics Advances, 4(1):100157. Cell Press
HGG Advances, 4
HGG Advances, 4, 1

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Medizin, Molecular Medicine, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::640be29535a8f0b1ba574efb6389b7be
https://doi.org/10.1016/j.xhgg.2022.100157

المؤلفون: Dena R. Matalon, Elizabeth J. Bhoj, Dong Li, Carey McDougall, Erica Schindewolf, Nahla Khalek, Alisha Wilkens, Morgan McManus, Matthew A. Deardorff, Elaine H. Zackai

المصدر: American journal of medical genetics. Part AREFERENCES.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10da89e42671a73acb32ec7d7e80217c
https://pubmed.ncbi.nlm.nih.gov/36610046

المؤلفون: Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett

المساهمون: MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Polikliniek (9), Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

المصدر: Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group

مصطلحات موضوعية: Phenotype, Neurodevelopmental Disorders, Autism, Intellectual Disability, Familial exudative vitreoretinopathy, Microcephaly, Cerebral palsy, Humans, Genomics, Wnt Signaling Pathway, Genetics (clinical), Wnt beta catenin signaling pathway, beta Catenin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc

المؤلفون: Alanna Strong, Christopher J. Cardinale, Deborah Watson, Hakon Hakonarson, Jamie Merves, Cuiping Hou, Sophia E. Kim, Lawrence Copelovitch, Jeffrey T. Billheimer, Leslie Raffini, Elaine H. Zackai, Hilary B. Whitworth, Diana J. Slater, Michael E. March, Courtney Vaccaro, Christopher Larosa

المصدر: American Journal of Medical Genetics Part A. 188:463-472

مصطلحات موضوعية: Photophobia, Ichthyosis, business.industry, Endoplasmic reticulum, medicine.disease, Phenotype, Immunology, Genetics, Unfolded protein response, medicine, Missense mutation, medicine.symptom, business, Transcription factor, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e14e747c733c434f474abe4d8472d98d
https://doi.org/10.1002/ajmg.a.62537

المؤلفون: Kevin E.C. Meyers, Susan L. Furth, Sonya Lopez, Jessica Gold, Jacqueline Leonard, Elaine H. Zackai, Lauren Galea, Stacey Drant, Wendy Hsiao, Alanna Strong, Sandra Amaral, Nina B. Gold, Cara M. Skraban, Reed E. Pyeritz

المصدر: Am J Med Genet A

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Contracture, Adolescent, Fibrillin-2, Receptor, Transforming Growth Factor-beta Type I, Connective tissue, Smad2 Protein, Kidney, Kidney cysts, Article, Cystic kidney disease, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Congenital contractural arachnodactyly, Child, Connective Tissue Diseases, Genetics (clinical), Exome sequencing, Cystic kidney, Loeys-Dietz Syndrome, business.industry, Kidney Diseases, Cystic, medicine.disease, Connective tissue disease, Arachnodactyly, Phenotype, medicine.anatomical_structure, Connective Tissue, Mutation, Skin Abnormalities, medicine.symptom, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f36577b97694156ccd888e607eaefd
https://doi.org/10.1002/ajmg.a.62449

المؤلفون: Daniel E. McGinn, T. Blaine Crowley, Tracy Heung, Oanh Tran, Edward Moss, Elaine H. Zackai, Beverly S. Emanuel, Eva W. C. Chow, Bernice E. Morrow, Ann Swillen, Anne S. Bassett, Donna M. McDonald-McGinn

المصدر: Genes; Volume 13; Issue 10; Pages: 1800

مصطلحات موضوعية: Genetics & Heredity, intellect, de novo, Science & Technology, familial, CHILDREN, 22q, FSIQ, Chromosomes, chromosome, deletion, DiGeorge, parent-of-origin, Intellectual Disability, PSYCHOSOCIAL ADJUSTMENT, DiGeorge Syndrome, Genetics, Humans, Chromosome Deletion, Life Sciences & Biomedicine, Genetics (clinical)

وصف الملف: Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6468bab070fc9796f70a3930443f19d3
https://lirias.kuleuven.be/handle/20.500.12942/706653