Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Margaret H. Harr"'
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
Autor:
Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100122- (2022)
Externí odkaz:
https://doaj.org/article/2933846d32ba4a2faa49561ba57d523c
Autor:
Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj
Publikováno v:
HGG Advances, Vol 2, Iss 2, Pp 100024- (2021)
Summary: Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) is part of the four-part ASC-1 transcriptional cointegrator complex. This complex includes ASCC1 (associated with spinal muscular atrophy with congenital bone fractures 2), TRIP4 (a
Externí odkaz:
https://doaj.org/article/cb443ab29c294cd38ee393efc5038a34
Autor:
Amy A. Blumling, Cynthia A. Prows, Margaret H. Harr, Wendy K. Chung, Ellen Wright Clayton, Ingrid A. Holm, Georgia L. Wiesner, John J. Connolly, John B. Harley, Hakon Hakonarson, Michelle L. McGowan, Erin M. Miller, Melanie F. Myers
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 11; Pages: 1910
Purpose: The electronic Medical Records and Genomics (eMERGE) Phase III study was undertaken to assess clinical utility of returning medically actionable genomic screening results. We assessed pediatric clinical outcomes following return of pathogeni
Autor:
Kathleen A. Leppig, Alanna Kulchak Rahm, Paul Appelbaum, Sharon Aufox, Sarah T. Bland, Adam Buchanan, Kurt D. Christensen, Wendy K. Chung, Ellen Wright Clayton, David Crosslin, Josh Denny, Shannon DeVange, Adam Gordon, Robert C. Green, Hakon Hakonarson, Margaret H. Harr, Nora Henrikson, Christin Hoell, Ingrid A. Holm, Iftikhar J. Kullo, Gail P. Jarvik, Philip E. Lammers, Eric B. Larson, Noralane M. Lindor, Maddalena Marasa, Melanie F. Myers, Emma Perez, Josh F. Peterson, Siddharth Pratap, Cynthia A. Prows, James D. Ralston, Hila Milo Rasouly, Dan M. Roden, Richard R. Sharp, Rajbir Singh, Gabriel Shaibi, Maureen E. Smith, Amy Sturm, Heidi A. Thiese, Sara L. Van Driest, Janet Williams, Marc S. Williams, Julia Wynn, Carrie L. Blout Zawatsky, Georgia L. Wiesner
Publikováno v:
Genet Med
PURPOSE: The goal of Electronic Medical Records and Genomics (eMERGE) Phase III Network was to return actionable sequence variants to 25,084 consenting participants from 10 different health care institutions across the United States. The purpose of t
Autor:
Susannah Brydges, Kelly A. Frazer, Boris Hügle, Xun Xu, Shawn Yost, Niraj C. Patel, Hakon Hakonarson, Dong Li, Ben A. Croker, Lori Broderick, Matthew D. McGeough, Corinna Gebauer, Caroline A. Austin, Jian Wang, Marisela Guaderrama, Jian-Guo Zhang, Margaret H. Harr, Laela M. Booshehri, Ian G. Cowell, Hal M. Hoffman, Christopher D. Putnam, Karolina Kucharova, Elaine H. Zackai
Publikováno v:
Nature Communications
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in
Autor:
Christin Hoell, Maddalena Marasa, Noralane M. Lindor, Richard R. Sharp, Nora B. Henrikson, Sarah T. Bland, Janet L. Williams, Cynthia A. Prows, James D. Ralston, Hila Milo Rasouly, Sharon Aufox, Alanna Kulchak Rahm, Eric B. Larson, Ellen Wright Clayton, Paul S. Appelbaum, Josh F. Peterson, Carrie L. Blout, Sara L. Van Driest, Ingrid A. Holm, Philip E. Lammers, Wendy K. Chung, Maureen E. Smith, Robert C. Green, Iftikhar J. Kullo, Gail P. Jarvik, Marc S. Williams, Kurt D. Christensen, Margaret H. Harr, Julia Wynn, Georgia L. Wiesner, Kathleen A. Leppig, Melanie F. Myers
Publikováno v:
Journal of Personalized Medicine
Volume 10
Issue 2
Journal of Personalized Medicine, Vol 10, Iss 30, p 30 (2020)
Volume 10
Issue 2
Journal of Personalized Medicine, Vol 10, Iss 30, p 30 (2020)
A goal of the 3rd phase of the Electronic Medical Records and Genomics (eMERGE3) Network was to examine the return of results (RoR) of actionable variants in more than 100 genes to consenting participants and their healthcare providers. Each of the 1
Autor:
Jenny Morton, Francine Pinheiro Favaro, Deborah J. Shears, Fabiola Quintero-Rivera, Art Grix, Shelagh Joss, Margaret H. Harr, Antonie D. Kline, William B. Dobyns, Vanesa López-González, Josh Silver, John C. Johnson, I. Karen Temple, Angela E. Scheuerle, Julie Lauzon, Jane Estrella, Amanda C. Smith, Himanshu Goel, Elaine H. Zackai, Judith Allanson, Ghayda M. Mirzaa, Matthew Osmond, Kym M. Boycott, Julie Richer, Taila Hartley, Matthew A. Lines, Laura A. Baker, Alasdair G. W. Hunter, Usha Kini, Johanna Martinezmoles, Louise C. Pyle, Cindy Hudson, Hanna Faghfoury, Susan M. White, Jiddeke M. van de Kamp, Megan R. Vanstone, Dorte L Lildballe, Dennis E. Bulman, Chantal F. Morel, Bitten Schönewolf-Greulich, Tabib Dabir, Cliff J Meldrum, Nick Barrowman, Maria Leine Guion-Almeida, Katrina M. Dipple, Ruobing Zou, Fleur S van Dijk, Lijia Huang, Pernille Axel Gregersen, Anthony Vandersteen, Amy S. Kimball, Karen W. Gripp
Publikováno v:
Huang, L, Vanstone, M R, Hartley, T, Osmond, M, Barrowman, N, Allanson, J, Baker, L, Dabir, T A, Dipple, K M, Dobyns, W B, Estrella, J, Faghfoury, H, Favaro, F P, Goel, H, Gregersen, P A, Gripp, K W, Grix, A, Guion-Almeida, M L, Harr, M H, Hudson, C, Hunter, A G W, Johnson, J, Joss, S K, Kimball, A, Kini, U, Kline, A D, Lauzon, J, Lildballe, D L, López-González, V, Martinezmoles, J, Meldrum, C, Mirzaa, G M, Morel, C F, Morton, J E V, Pyle, L C, Quintero-Rivera, F, Richer, J, Scheuerle, A E, Schönewolf-Greulich, B, Shears, D J, Silver, J, Smith, A C, Temple, I K, van de Kamp, J M, van Dijk, F S, Vandersteen, A M, White, S M, Zackai, E H, Zou, R, Bulman, D E, Care4Rare Canada Consortium & UCLA Clinical Genomics Center 2016, ' Mandibulofacial Dysostosis with Microcephaly : Mutation and Database Update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Care4Rare Canada Consortium 2016, ' Mandibulofacial dysostosis with microcephaly : Mutation and database update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB7, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK,; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Consortium CC, Bulman DE1, Boycott KM, Lines MA. 2016, ' Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update ', Human Mutation, vol. 37, no. 2 . https://doi.org/10.1002/humu.22924
Care4Rare Canada Consortium 2016, ' Mandibulofacial dysostosis with microcephaly : Mutation and database update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB7, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK,; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Consortium CC, Bulman DE1, Boycott KM, Lines MA. 2016, ' Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update ', Human Mutation, vol. 37, no. 2 . https://doi.org/10.1002/humu.22924
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1db163302728a8b33ad72971076fcc
https://research.vumc.nl/en/publications/c8ea0851-1536-452e-81b0-89cf246d03b0
https://research.vumc.nl/en/publications/c8ea0851-1536-452e-81b0-89cf246d03b0
Autor:
Tjitske Kleefstra, Katherine G. Keating, Marie Shaw, Lisenka E.L.M. Vissers, Sascha Vermeer, Jane Juusola, Barbara K. Burton, Margaret H. Harr, Hanka Venselaar, Kevin A. Strauss, Angela Myers, Antonie D. Kline, Karlla W. Brigatti, Koen L.I. van Gassen, Wendy K. Chung, E. Smeets, Willemijn M. Wissink-Lindhout, Usha Kini, Katrina Tatton-Brown, Alexander Hoischen, Amy S. Kimball, C Jensen, Hilde Van Esch, Christian Gilissen, Maaike Vreeburg, Patrick Reed, Perciliz L. Tan, M Bienek, Diana Baralle, Julie McLaughlin, Joyce Fox, Stefan A. Haas, Nicholas Katsanis, Tom S. Koemans, Jolanda H. Schieving, Janneke H M Schuurs-Hoeijmakers, Jennifer Norman, Vera M. Kalscheuer, Sally Ann Lynch, Sarju G. Mehta, Anke Van Dijck, Megan T. Cho, Alison Male, Erik C. Madsen, Katrina Haude, Marvin R. Natowicz, Pradeep Vasudevan, Jacques C. Giltay, Kyle Retterer, Alison Ross, Kristin Lindstrom, Han G. Brunner, Katherine H. Kim, Michael Parker, A. Micheil Innes, Bart Loeys, R. Frank Kooy, Joel Charrow, Kristin G. Monaghan, Eric Haan, Michael C. Kruer, Margot R.F. Reijnders, Andreas Rump, Rolph Pfundt, Lot Snijders Blok, Quinn Stein, Jozef Gecz, Audrey Foster-Barber, Elaine H. Zackai, Karin Oberndorff, Kees E. P. van Roozendaal, Alan Fryer, Ruth Newbury-Ecob, Nataliya Di Donato, Kate Chandler, Alex Henderson, Céline Helsmoortel, Igor Pediaditakis, Bregje W.M. van Bon, Eden Haverfield, Corrado Romano, Sybe Dijkstra, Evan E. Eichler, Connie T.R.M. Stumpel, Hilary Racher
Publikováno v:
The American journal of human genetics
American Journal of Human Genetics, 97, 2, pp. 343-52
American Journal of Human Genetics, 97(2), 343. Cell Press
American Journal of Human Genetics, 97(2), 343-352. Cell Press
Europe PubMed Central
The American Journal of Human Genetics
American Journal of Human Genetics, 97, 343-52
American Journal of Human Genetics, 97(2), 343-352. CELL PRESS
American journal of human genetics, vol 97, iss 2
American Journal of Human Genetics, 97, 2, pp. 343-52
American Journal of Human Genetics, 97(2), 343. Cell Press
American Journal of Human Genetics, 97(2), 343-352. Cell Press
Europe PubMed Central
The American Journal of Human Genetics
American Journal of Human Genetics, 97, 343-52
American Journal of Human Genetics, 97(2), 343-352. CELL PRESS
American journal of human genetics, vol 97, iss 2
Contains fulltext : 153453.pdf (Publisher’s version ) (Open Access) Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chrom