Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Amanda Lindy"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101046- (2024)
Externí odkaz:
https://doaj.org/article/48df3259114744dcb708e00c0320dd34
Autor:
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affecte
Externí odkaz:
https://doaj.org/article/711cfaa4bbdd40c88cf90df5e876adc6
Autor:
Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macroc
Externí odkaz:
https://doaj.org/article/7ea31eb997db422aa3beb7b35aae7a11
Autor:
Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
Externí odkaz:
https://doaj.org/article/e75223815948439e9477ffcd46c3405b
Autor:
Zhiyu Liu, Herong Shi, Lindsey C Szymczak, Taner Aydin, Sijung Yun, Katharine Constas, Arielle Schaeffer, Sinthu Ranjan, Saad Kubba, Emad Alam, Devin E McMahon, Jingpeng He, Neta Shwartz, Chenxi Tian, Yevgeniy Plavskin, Amanda Lindy, Nimra Amir Dad, Sunny Sheth, Nirav M Amin, Stephanie Zimmerman, Dennis Liu, Erich M Schwarz, Harold Smith, Michael W Krause, Jun Liu
Publikováno v:
PLoS Genetics, Vol 11, Iss 5, p e1005221 (2015)
Bone morphogenetic proteins (BMPs) belong to the transforming growth factor β (TGFβ) superfamily of secreted molecules. BMPs play essential roles in multiple developmental and homeostatic processes in metazoans. Malfunction of the BMP pathway can c
Externí odkaz:
https://doaj.org/article/2cdd01aad6384a788b2ff6e185ab57fd
Autor:
Logan C. Walker, Miguel de la Hoya, George A.R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T Parsons, Daffodil M Canson, Dana Bis-Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B Byrne, Tina Pesaran, Rachid Karam, Steven Harrison, Amanda B Spurdle
Publikováno v:
medRxiv
The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of variants: PVS1 (null variant in a gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1284c302fbe39e32460ed49914de2ed3
https://europepmc.org/articles/PMC9980257/
https://europepmc.org/articles/PMC9980257/
Autor:
Z. Ji, E. Fitch, N. Ghabra, J. Nishtha, Dianalee McKnight, Ingo Helbig, Amanda Lindy, Edward C. Cooper, N. Jairam, Alfred L. George, Sneha Adusumilli, F. Zou, Carlos G. Vanoye, Reshma R. Desai, Kimberly Helbig
Publikováno v:
JCI Insight. 7
Hundreds of KCNQ2 variants have been identified by genetic testing of children with early onset epilepsy and/or developmental disability. Voltage-clamp recording from heterologous cells has proved useful for establishing deleterious functional effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a2b04e6b56b3728567dadde584236f
https://doi.org/10.1172/jci.insight.156314
https://doi.org/10.1172/jci.insight.156314
Autor:
Matthew S. Lebo, Ahmad N. Abou Tayoun, Chao Wu, Mahdi Sarmady, Amanda Lindy, Dianalee McKnight, Perry Evans
Publikováno v:
Genome Research. 29:1144-1151
Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic tests. Given the paucity of evidence to accurately classify each variant and the difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad2c83aa18dea5b59184a3a421ae0b49
https://doi.org/10.1101/gr.240994.118
https://doi.org/10.1101/gr.240994.118
Autor:
Eduardo Pérez-Palma, Joseph D. Symonds, Andreas Brunklaus, Dennis Lal, Amanda Lindy, Rikke S. Møller, Sameer M. Zuberi, Costin Leu, Dianalee McKnight, Javier A López-Rivera
Publikováno v:
López-Rivera, J A, Pérez-Palma, E, Symonds, J, Lindy, A S, McKnight, D A, Leu, C, Zuberi, S, Brunklaus, A, Møller, R S & Lal, D 2020, ' A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants ', Brain : a journal of neurology, vol. 143, no. 4, pp. 1099-1105 . https://doi.org/10.1093/brain/awaa051
A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57fa59f8e1cb8b52a3dfd333d9e1dce5
https://findresearcher.sdu.dk:8443/ws/files/170280544/awaa051.pdf
https://findresearcher.sdu.dk:8443/ws/files/170280544/awaa051.pdf
Autor:
Anita Shanmugham, Courtney Downtain‐Pickersgill, Tracy Brandt, Dianalee McKnight, Elizabeth Butler, Gabriele Richard, Mary Beth Stosser, Kyle Retterer, Amanda Lindy
Publikováno v:
Epilepsia. 59:1062-1071
Objective We evaluated >8500 consecutive, unselected patients with epilepsy and neurodevelopmental disorders who underwent multigene panel testing to determine the average age at molecular diagnosis and diagnostic yield of 70 genes. Methods We review
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::357a57a4392a383f756f691604583b24
https://doi.org/10.1111/epi.14074
https://doi.org/10.1111/epi.14074