Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Elizabeth A. Geiger"'
Autor:
Lisanne Vervoort, Tamim H. Shaikh, Beverly S. Emanuel, Elfi Vergaelen, Ming Xiao, Steven Pastor, Wolfram Demaerel, Donna M. McDonald-McGinn, Matthew S. Hestand, Ann Swillen, Yulia Mostovoy, Elizabeth A. Geiger, Pui-Yan Kwok, Joris Vermeesch, Bernice E. Morrow, Curtis R. Coughlin, Stephen K. Chow, Feyza Yilmaz
Publikováno v:
Genome research, vol 29, iss 9
Low copy repeats (LCRs) are recognized as a significant source of genomic instability, driving genome variability and evolution. The Chromosome 22 LCRs (LCR22s) mediate nonallelic homologous recombination (NAHR) leading to the 22q11 deletion syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce69d30c7c07cbca901d9297cc285853
https://doi.org/10.1101/gr.248682.119
https://doi.org/10.1101/gr.248682.119
Autor:
Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield
Publikováno v:
Genetics, vol 217, iss 2
Genetics
Genetics
Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs share a high level of sequence similarity with each other. SDs mediate chromosomal rearrangements that lead to structural variation in the general population as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4e
https://escholarship.org/uc/item/15562671
https://escholarship.org/uc/item/15562671
Autor:
Pui-Yan Kwok, Elizabeth A. Geiger, Kathryn C. Chatfield, Yulia Mostovoy, Catherine J. Chu, Meeks Njl, Chris Lin, Feyza Yilmaz, Tamim H. Shaikh, Curtis R. Coughlin, Stephen K. Chow
Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs share a high level of sequence similarity with each other. SDs mediate chromosomal rearrangements that lead to structural variation in the general population as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42841a8936620bb2e8756f0eefa13b94
Autor:
Rwik Sen, Kristin Bruk Artinger, Tamim H. Shaikh, Kenneth L. Jones, Elizabeth A. Geiger, Ezra Lencer
KMT2D and KDM6A are epigenetic regulators that have been implicated in Kabuki Syndrome, a rare congenital birth defect with multiple tissue and organ abnormalities, including craniofacial and heart defects. Our previous study identified human familie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d611bb0205a273e6d526d3d2d5284e9
https://doi.org/10.1101/2020.04.03.024646
https://doi.org/10.1101/2020.04.03.024646
Autor:
David Watkins, Abigail Watson, Hung-Chun Yu, Tomi Pastinen, Anita M. Quintana, Warren A. Cheung, Shu-Huang Chen, Mihaela Pupavac, Victoria L. Castro, Flemming Skovby, Elizabeth A. Geiger, Alison Brebner, Tamim H. Shaikh, Bruce Appel, David S. Rosenblatt
Publikováno v:
Human Molecular Genetics. 26:2838-2849
CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8b8aeeea8544c59285fc7d2cffa4f6b
https://doi.org/10.1093/hmg/ddx157
https://doi.org/10.1093/hmg/ddx157
Autor:
Feyza Yilmaz, Bernice E. Morrow, Beverly S. Emanuel, Joris Vermeesch, Lisanne Vervoort, Tamim H. Shaikh, Steven Pastor, Elfi Vergaelen, Ann Swillen, Curtis R. Coughlin, Yulia Mostovoy, Wolfram Demaerel, Donna M. McDonald-McGinn, Stephen K. Chow, Pui-Yan Kwok, Matthew S. Hestand, Ming Xiao, Elizabeth A. Geiger
Low copy repeats (LCRs) are recognized as a significant source of genomic instability, driving genome variability and evolution. The chromosome 22 LCRs (LCR22s) are amongst the most complex regions in the genome and their structure remains unresolved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07c754015d8911ea8564f0f3a3ed1290
Autor:
Anita M. Quintana, Elizabeth A. Geiger, Kristin Bruk Artinger, David E. Clouthier, Jeffrey E. Ming, Peter M. Van Laarhoven, Elaine H. Zackai, Tamim H. Shaikh, Leif R. Neitzel
Publikováno v:
Human Molecular Genetics. 24:4443-4453
Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by distinctive facial features, global developmental delay, intellectual disability and cardiovascular and musculoskeletal abnormalities. While mutations in KMT2D have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b80778ff0530c50381d15ba4085fda28
https://doi.org/10.1093/hmg/ddv180
https://doi.org/10.1093/hmg/ddv180
Autor:
Christopher A. Powell, Michael A. Swanson, Arnaud Vanlander, Michal Minczuk, Elizabeth A. Geiger, Johan L.K. Van Hove, Geralyn Creadon-Swindell, Tamim H. Shaikh, Abigail Collins, Hung-Chun Yu, Curtis R. Coughlin, Gunter Scharer, Rudy Van Coster, Marisa W. Friederich
Publikováno v:
JOURNAL OF MEDICAL GENETICS
Background Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present. Although mutations in either mitochon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10db7aeff3e6b2a7d0b5a5e492303be1
https://doi.org/10.1136/jmedgenet-2015-103049
https://doi.org/10.1136/jmedgenet-2015-103049
Autor:
Melissa P. Wasserstein, Alison G. Compton, Peter Procopis, Tamim H. Shaikh, Marisa W. Friederich, Wang-Tso Lee, Malene B. Rasmussen, Michael A. Swanson, Elizabeth A. Geiger, Kenneth N. Maclean, Geralyn Creadon-Swindell, Brian H. Robinson, Charu Deshpande, Elaine B. Spector, Renata Collard, Gunter Scharer, Carol L. Dieckmann, Allan M. Lund, Joseph K. Aicher, Mary Louise Freckmann, Jessie M. Cameron, Ruth M. Brown, Peter R. Baker, Garry K. Brown, Michael F. Wempe, Johan L.K. Van Hove, Kaustuv Bhattacharya, Ling Yu Shih, Curtis R. Coughlin
Publikováno v:
Brain. 137:366-379
Patients with nonketotic hyperglycinemia and deficient glycine cleavage enzyme activity, but without mutations in AMT, GLDC or GCSH, the genes encoding its constituent proteins, constitute a clinical group which we call 'variant nonketotic hyperglyci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f6cb072af0358bed89fce406f828046
https://doi.org/10.1093/brain/awt328
https://doi.org/10.1093/brain/awt328
Autor:
Terttu Suormala, Alison Brebner, Anita M. Quintana, Jennifer L. Sloan, Tamim H. Shaikh, David S. Rosenblatt, Matthias R. Baumgartner, Elizabeth A. Geiger, Gunter Scharer, Charles P. Venditti, Curtis R. Coughlin, Una Schneck, Brian Fowler, Nathan P. Achilly, Hung-Chun Yu, Johan L.K. Van Hove, David Watkins, Irini Manoli
Publikováno v:
American Journal of Human Genetics
Derivatives of vitamin B12 (cobalamin) are essential cofactors for enzymes required in intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by the accumulation of methylmalonic acid and/or homocysteine in blood and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33376f9fb279a574075ced42c7ea8585