Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Lindsey Mighion"'
1
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods
Autor: Katelynn Beattie, Lindsey Mighion, Linyan Meng, Maria Helgeson, Izabela Karbassi, Dianalee A. McKnight, John Chrisodoulou, Jeffrey L. Neul, Ping Fang, Hope Bonin, Michael J. Friez, Rahul Krishnaraj, Alan K. Percy, Huda Y. Zoghbi, Soma Das, Thierry Bienvenu, Simon C Ramsden, Lora Jh Bean
Publikováno v: Human Mutation. 43:1097-1113
The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. To address those challenges, the Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) dr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4614de9d1107b66817f1df37eebbc73
https://doi.org/10.1002/humu.24302
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3
Evaluating parental genetic knowledge of hearing loss with and without pre-test genetic counseling in a pediatric otolaryngology clinic
Autor: Nikhila Raol, Lisa Oakes, Kavita Dedhia, Dillon Davis, Lindsey Mighion
Publikováno v: Journal of genetic counselingREFERENCES. 30(5)
This study evaluated parental knowledge of genetics of sensorineural hearing loss (SNHL) and satisfaction following pre-test consult with and without genetic counseling (GC). A survey evaluating parents' knowledge of genetics for SNHL with and withou
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27d6dad7049b4e01a509e31c45ba6859
https://pubmed.ncbi.nlm.nih.gov/33734538
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5
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder
Autor: Alessandro Pontoglio, Lora J. H. Bean, Zachary Whitt, Lindsey Mighion, Madhuri Hegde, Zunyan Dai, Roberto Colombo
Publikováno v: European Journal of Medical Genetics. 60:312-316
To date, the NM_002472.2(MYH8):c.2021G>A (p.Arg674Gln) missense variant in the MYH8 gene is the only known genetic change in individuals with autosomal dominant trismus-pseudocamptodactyly syndrome with unknown molecular mechanism. Next-generation se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e60cad53d837e684e217ed7e95b415
https://doi.org/10.1016/j.ejmg.2017.03.012
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6
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Autor: Amy K. Johnson, Heidi L. Rehm, Madhuri Hegde, Kevin M. Bowling, C. Sue Richards, Wendy K. Chung, Gail P. Jarvik, Susan M. Wolf, Karen E. Weck, Michele C. Gornick, Joshua L. Deignan, Brian H. Shirts, James P. Evans, Soma Das, Sumit Punj, Lindsey Mighion, Sharon E. Plon, Massimo Morra, Julianne M. O’Daniel, Arezou A. Ghazani, Katrina A.B. Goddard, Sherri J. Bale, Tina Hambuch, Sha Tang, Gregory M. Cooper, Lucia A. Hindorff, Kelly D. Farwell Hagman, Ingrid A. Holm, Elizabeth C. Chao, Heather M. McLaughlin, Laura K. Conlin, Nancy B. Spinner, Avni Santani, David P. Bick, Yaping Yang, Jonathan S. Berg, Laura M. Amendola, Michael O. Dorschner
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
O'Daniel, Julianne M; McLaughlin, Heather M; Amendola, Laura M; Bale, Sherri J; Berg, Jonathan S; Bick, David; et al.(2017). A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.. Genetics in medicine : official journal of the American College of Medical Genetics, 19(5), 575-582. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/36w1z6tw
While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant var
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889af21b96e0c10168658f258ca287db
https://doi.org/10.1038/gim.2016.152
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7
Regulating whole exome sequencing as a diagnostic test
Autor: Lindsey Mighion, Madhuri Hegde, Lora J. H. Bean, Ymkje Cuperus, Valentina Lapin, Cristina da Silva
Publikováno v: Human Genetics. 135:655-673
In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in the vast increase in genetic diagnostic testing available to the ordering physician. Whole
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b93b9510366e7f3b96dd0540d4fb0f08
https://doi.org/10.1007/s00439-016-1677-3
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8
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome
Autor: Kara E. Boodhansingh, Laura K. Conlin, Charles A. Stanley, N. Scott Adzick, Susan A. Becker, Diva D. De León, Jennifer M. Kalish, Arupa Ganguly, Lindsey Mighion, Andrew A. Palladino, Stephanie Givler, Matthew A. Deardorff, Tricia R. Bhatti
Publikováno v: Journal of medical genetics. 53(1)
Background Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith–Wiedemann syndrome (BWS), the underlying mechanism is not known. Methods We characterised
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6fecf471733a4f1230793db30ae9a2f
https://pubmed.ncbi.nlm.nih.gov/26545876
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