Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Sandesh Nagamani"'
Autor:
Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background The RPGR gene has been associated with X‐linked cone‐rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been included in panel‐based testing and thus g
Externí odkaz:
https://doaj.org/article/644af10dc66f4c1cac283df6900e335b
Autor:
Christiana Wang, Shenglan Li, Sen Zhao, Jefferson Sinson, Nhi Ho, Blake Vuocolo, Gary Clark, Sandesh Nagamani, Pengfei Liu
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101017- (2024)
Externí odkaz:
https://doaj.org/article/3cfb569dd53c478ab149d90a8ea8cc5e
Autor:
Kara Simpson, Nicholas Ah. Mew, Ljubica Caldovic, William Craigen, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalker, McKenna Kyriss, Uta Lichter-Konecki, Sandesh Nagamani, Elaine Spector, Amanda Thomas-Wilson, Manya Warrier, Meredith Weaver, Diane Zastrow
Publikováno v:
Molecular Genetics and Metabolism. 138:107488
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9973690bc22440ca145e72c75da7cf31
https://doi.org/10.1016/j.ymgme.2023.107488
https://doi.org/10.1016/j.ymgme.2023.107488
Autor:
Nadia Merchant, Nishitha Pillai, Chase Miller, Trevor Hadley, Lefkothea Karaviti, Alan Schlesinger, Sandesh Nagamani, Lindsay Burrage, Members of Brittle Bone Disorders Consortium, Brendan Lee
Publikováno v:
Journal of the Endocrine Society
OBJECTIVE: Dual-energy X-ray absorptiometry (DXA) is routinely used to assess areal bone mineral density (aBMD) and to monitor the response to therapy. However, the interpretation of aBMD as assessed by DXA can be limited by many factors in individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7108c9198fbb53a5b299bc737b44583
http://europepmc.org/articles/PMC6552135
http://europepmc.org/articles/PMC6552135
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary figure presenting CNVs in CSMD1, including de novo (red), inherited (blue), and deletions of unknown inheritance (green). (PPTX 95 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49a7cdbc5ea98210dbaada9c2a372867
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary table reporting de novo or hemizygous deletions or intragenic duplications encompassing 2â 5 genes in recently proposed candidate or not yet associated disease genes. (DOCX 29 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17c888bb5f23f80e6d4b4903fa58e50e
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary table containing clinical information on patients with AGBL4 variants. (DOCX 19 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c0b96c0ba4410a3619a7b1786fe1041
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary table containing clinical information on patients with CSMD1 variants. (DOCX 21 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16ec1a97cbbbb65253284814780c581b
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary text discussing AGBL4 and CSMD1 as potential novel candidate disease genes. (DOCX 40 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76a98df06ce76fa7fcad02fc52708ec8
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary table containing clinical information on patients with additional variants in ARGLU1/EFNB2. (DOCX 14 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5bc0d665d8b12178ef6e0cc14f3e4af7