Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Edwin J. Young"'
Autor:
Kathleen M B Vinette, Michelle Furman, Nina Lenherr-Taube, Alan Daneman, Kenneth E. Thummel, Esther Assor, Susan M. Kirwin, Yesmino Elia, Etienne Sochett, Michael A. Levine, Edwin J. Young, Katherine M. Robbins, Christian R. Marshall, David Chitayat, Tami Uster, Carol Collins
Publikováno v:
J Clin Endocrinol Metab
Context Idiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH)2D) and low parathyroid hormone (PTH) levels, may present with mild to severe hypercalcemia duri
Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D’abate, Clarissa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma’n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires whole-genome sequencing (WGS), which theoretically allows the detection of all types of genetic variants. With the aim of generating an unprecedented resource
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b717e0844196ee000bbf7582208abb19
https://doi.org/10.1101/2022.05.05.22274031
https://doi.org/10.1101/2022.05.05.22274031
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D'Abate, Clarrisa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma'n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
Publikováno v:
Cell. 185:4409-4427.e18
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents a
Autor:
Christian R. Marshall, Edwin J. Young, Wilson W L Sung, Richard M. Zur, Dimitri J. Stavropoulos, Kate Tsiplova, Daniele Merico, Wendy J. Ungar, Sergio L. Pereira, Stephen W. Scherer
Publikováno v:
Genetics in Medicine. 19:1268-1275
PurposeWhole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but there have been no comprehensive cost analyses. The objective was to perform such
Autor:
Matteo Vietri Rudan, Edwin J. Young, Petra C. Schwalie, Jüri Reimand, Anne-Claude Gingras, Huayun Hou, Suzana Hadjur, Alejandra Medina-Rivera, Payman Samavarchi-Tehrani, Hisham Mohammed, Minggao Liang, Michael D. Wilson, Liis Uusküla-Reimand, Dominic Schmidt
Publikováno v:
Genome Biology
Background Type II DNA topoisomerases (TOP2) regulate DNA topology by generating transient double stranded breaks during replication and transcription. Topoisomerase II beta (TOP2B) facilitates rapid gene expression and functions at the later stages
Autor:
Christian R. Marshall, Wayne Loo, Lucy R. Osborne, Stephen W. Scherer, Colleen A. Morris, Edwin J. Young, Elaine Tam, Carolyn B. Mervis
Publikováno v:
American Journal of Medical Genetics Part A. :1797-1806
Williams-Beuren syndrome (WBS) is caused by a approximately 1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, sugg
Autor:
Kristi K. Fitzgerald, Paige Kaplan, Manuela Priolo, Patrick Edery, Maarit Peippo, Kate Shane, Holly H. Hobart, Esra Manguoğlu, Edwin J. Young, Carolyn B. Mervis, Yves Lacassie, Masafumi Morimoto, Cédric Howald, Lucy R. Osborne, Sibel Berker-Karauzum, Ariel M. Pani, Alexandre Reymond, Colleen A. Morris, Ronald G. Gregg, Christian R. Marshall, Orsetta Zuffardi, May Tassabehji, Ikuko Kondo, Stephen W. Scherer, Mary Louise Freckmann
Publikováno v:
The American Journal of Human Genetics. 83(1):106-111
Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a l
Autor:
Jennifer A. Chan, Uri Tabori, James T. Rutka, Keith L. Ligon, Patricia Rakopoulos, Peter N. Ray, Cynthia Hawkins, Jason D. Pole, Rahul Krishnatry, Cindy Zhang, James Stavropoulos, Vilma Navickiene, Annie Huang, Michael D. Taylor, Ana Guerreiro Stucklin, Adam Shlien, Eric Bouffet, Mary Shago, Mark T. Greenberg, Marc Remke, Pawel Buczkowicz, Martin Li, Doua Bakry, Vijay Ramaswamy, Peter B. Dirks, Edwin J. Young, Noa Alon, Daniele Merico, Pedro Castelo-Branco, Matthew Mistry, Suzanne Laughlin, Nataliya Zhukova, Joshua Mangerel, David Malkin
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Purpose To uncover the genetic events leading to transformation of pediatric low-grade glioma (PLGG) to secondary high-grade glioma (sHGG). Patients and Methods We retrospectively identified patients with sHGG from a population-based cohort of 886 pa
Autor:
Martin J. Somerville, Edwin J. Young, Carolyn B. Mervis, Margaret Lilley, Wayne Loo, Ella Peregrine, Stephen Bamforth, Stephen W. Scherer, Eul-Ju Seo, Miguel Del Campo, Luis A. Pérez-Jurado, Lucy R. Osborne, Colleen A. Morris
Publikováno v:
New England Journal of Medicine. 353:1694-1701
The Williams–Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It
Autor:
Liguo Wang, Edwin J. Young, Michael T. Zimmermann, Junsheng Chen, Huihuang Yan, Liis Uusküla-Reimand, Michael D. Wilson, Zhifu Sun, Stephen Wu, Haojie Huang, Chen Wang, Alejandra Medina-Rivera, Yuji Zhang, Jean Pierre A. Kocher, Kaifu Chen, Wei Li
Publikováno v:
Nucleic Acids Research
Understanding the role of a given transcription factor (TF) in regulating gene expression requires precise mapping of its binding sites in the genome. Chromatin immunoprecipitation-exo, an emerging technique using λ exonuclease to digest TF unbound