Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Christin D Collins"'
Autor:
Sek Won Kong, Christin D Collins, Yuko Shimizu-Motohashi, Ingrid A Holm, Malcolm G Campbell, In-Hee Lee, Stephanie J Brewster, Ellen Hanson, Heather K Harris, Kathryn R Lowe, Adrianna Saada, Andrea Mora, Kimberly Madison, Rachel Hundley, Jessica Egan, Jillian McCarthy, Ally Eran, Michal Galdzicki, Leonard Rappaport, Louis M Kunkel, Isaac S Kohane
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e49475 (2012)
Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome study to date that aims
Externí odkaz:
https://doaj.org/article/bd29388a58af4c0ebd3d7730491c691a
Autor:
Fen Guo, Ruby Liu, Yinghong Pan, Christin D. Collins, Lora Bean, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Ephrem Chin, Cristina da Silva, Abhinav Mathur, Zeqiang Ma, Jorune Balciuniene, Madhuri Hegde
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100425- (2023)
Externí odkaz:
https://doaj.org/article/bb65bd1c873948899aacfe604fed82df
Autor:
Joseph J. Shen, Johannes Koch, Lonneke de Boer, Saskia B. Wortmann, Leo A. J. Kluijtmans, Christin D. Collins, Marleen C. D. G. Huigen, Clara D.M. van Karnebeek, Madhuri R Hegde, Robin van der Lee, Stephanie Ross
Publikováno v:
Genetics in Medicine, 23, 3, pp. 581-585
Genetics in Medicine, 23, 581-585
Genetics in medicine, 23(3), 581-585. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 581-585
Genetics in medicine, 23(3), 581-585. Lippincott Williams and Wilkins
Contains fulltext : 231549.pdf (Publisher’s version ) (Closed access) PURPOSE: The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the interpretation of sequence variants provide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c7b5dfc2de50bbdb453a20f799c094
https://doi.org/10.1038/s41436-020-00996-9
https://doi.org/10.1038/s41436-020-00996-9
Autor:
Randall Beadling, Cristina da Silva, Matthew B. Harms, Tahseen Mozaffar, Zachary Whitt, Laura E. Rufibach, John J. Alexander, Matthew Wicklund, Syed Hussain Askree, Christin D. Collins, Lora J. H. Bean, Rashna S Dastur, Arunkanth Ankala, Samya Chakravorty, Plavi Mittal, Satish V Khadilkar, Akanchha Kesari, Pradnya S Gaitonde, Alice K. Tanner, Madhuri Hegde, Babi Ramesh Reddy Nallamilli, Thomas Schneider
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 5, iss 12
Annals of clinical and translational neurology, vol 5, iss 12
Author(s): Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Tanner, Alice; Ankala, Arunkanth; Schneider, Thomas; da Silva, Cristina; Beadling, Randall; Alexander, John J; Askree, Syed Hussain; Whitt, Zachary; Bean, Lora; Collins,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f38c102c2daccf0e20be92c7be195a62
https://doi.org/10.1002/acn3.649
https://doi.org/10.1002/acn3.649
Autor:
Joseph J, Shen, Saskia B, Wortmann, Leo A J, Kluijtmans, Christin D, Collins, Robin, van der Lee, Clara D M, van Karnebeek, Madhuri R, Hegde
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a450f29097e4aa06ff25c460faead0a
https://pubmed.ncbi.nlm.nih.gov/33154565
https://pubmed.ncbi.nlm.nih.gov/33154565
Autor:
Avni Santani, Stefan Rentas, Eija H. Seppälä, Steven M. Harrison, Lisa M. Vincent, Andrew S. McFaddin, Christin D. Collins, Juha Koskenvuo, Brian H. Shirts, Hane Lee, Rong Mao, Scott Topper, Soma Das, Olga Jarinova, Wenjie Chen, Heidi L. Rehm, Krista Moyer, Rebecca Mar-Heyming, John Garcia, Kathy M. B. Vinette, Kathryn B. Garber, Joshua L. Deignan, Amy E. Knight Johnson, Timothy Tidwell, Narasimhan Nagan, Jill S. Dolinksy
Publikováno v:
Human Mutation. 39:1641-1649
ClinVar provides open access to variant classifications shared from many clinical laboratories. While most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::870f174084982c589fbfe3660e785533
https://doi.org/10.1002/humu.23643
https://doi.org/10.1002/humu.23643
Autor:
Babi Ramesh Reddy Nallamilli, Christin D. Collins, Madhuri Hegde, Leah Stansberry, Andrea Behlmann
Publikováno v:
Molecular Genetics and Metabolism. 132:S255-S256
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da113d7bf204b8b4a78ee068a7c58cd1
https://doi.org/10.1016/s1096-7192(21)00475-3
https://doi.org/10.1016/s1096-7192(21)00475-3
Autor:
Zeqiang Ma, Madhuri Hegde, Arul Duraisamy, Ruby Liu, Leah Stansberry, Andrea Behlmann, Abhinav Mathur, Christin D. Collins
Publikováno v:
Molecular Genetics and Metabolism. 132:S236-S237
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af83f3c0b60c0edee89ddb7362f5aaef
https://doi.org/10.1016/s1096-7192(21)00449-2
https://doi.org/10.1016/s1096-7192(21)00449-2
Autor:
Leo A. J. Kluijtmans, Saskia B. Wortmann, Clara D.M. van Karnebeek, Robin van der Lee, Madhuri R Hegde, Joseph J. Shen, Christin D. Collins
Publikováno v:
Genetics in Medicine
Genetics in medicine, 23(4), 793-794. Lippincott Williams and Wilkins
Genetics in medicine, 23(4), 793-794. Lippincott Williams and Wilkins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe91d7237e56d2be4a0b31925f8788e
https://doi.org/10.1038/s41436-020-01055-z
https://doi.org/10.1038/s41436-020-01055-z
Autor:
Babi Ramesh Reddy Nallamilli, Andrew McCarty, Abhinav Mathur, Madhuri Hegde, Christin D. Collins, Allison Mitchell, Yang Wang, Lora J. H. Bean, Akanchha Kesari, Ruby Liu
Publikováno v:
Molecular Genetics and Metabolism. 132:S277
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10d94924c2a64b12ef015cfcba6b6261
https://doi.org/10.1016/s1096-7192(21)00509-6
https://doi.org/10.1016/s1096-7192(21)00509-6