Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jennifer Kussman"'
Autor:
Kym M. Boycott, Erick Sell, Arran McBride, Martine Tétreault, Kristin D. Kernohan, Brooke E. Spangler, Lijia Huang, Eric A. Shoubridge, Geneviève Bernard, Taila Hartley, Virginia K. Proud, Mihaela Pupavac, David A. Dyment, Isabelle Thiffault, Samanta Vergano, David S. Rosenblatt, Zvi Cramer, Tara Myers, Jennifer Kussman, Jacek Majewski, Nicole P. Safina, Carol J Saunders, Aziz Mhanni, Emily G. Farrow, Isabella R Straub
Publikováno v:
Human mutation. 38(5)
Deleterious variants in the same gene present in two or more families with overlapping clinical features provide convincing evidence of a disease-gene association; this can be a challenge in the study of ultrarare diseases. To facilitate the identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2852fe756acac404f91dd7846081ed13
https://pubmed.ncbi.nlm.nih.gov/28185376
https://pubmed.ncbi.nlm.nih.gov/28185376
Autor:
Marco Tartaglia, Elizabeth J. Bhoj, Hakon Hakonarson, Megan Christine Rodriguez, Emily G. Farrow, Dihong Zhou, James R. Lupski, Zeynep Coban-Akdemir, Adam Jackson, Promita Ghosh, Simone Pizzi, Giuseppe Zampino, James Fasham, Siddharth Banka, Jennifer Kussman, Olivia Wenger, Kenneth G. Zahka, Sarah E Sheppard, Roberta Onesimo, Francesca Clementina Radio, Emma L. Baple, Teresa M. Neuhann, Barbara Triggs-Raine, Emily N. Barker, Jenina E. Capasso, Kate Chandler, Barry A. Chioza, Ingrid M. Wentzensen, Alex V. Levin, Siying Lin, Lettie E. Rawlins, Isabelle Thiffault, Elaine H. Zackai, Andrew H. Crosby, Natasha Osawa, Adam C. Gunning, Rick Hemming, Dong Li, Beth Keena, Jennifer E. Posey
Publikováno v:
Genetics in Medicine
Fasham, J, Lin, S, Ghosh, P, Radio, F C, Farrow, E G, Thiffault, I, Kussman, J, Zhou, D, Hemming, R, Zahka, K, Chioza, B A, Rawlins, L E, Wenger, O K, Gunning, A C, Pizzi, S, Onesimo, R, Zampino, G, Barker, E, Osawa, N, Rodriguez, M C, Neuhann, T M, Zackai, E H, Keena, B, Capasso, J, Levin, A V, Bhoj, E, Li, D, Hakonarson, H, Wentzensen, I M, Jackson, A, Chandler, K E, Coban-Akdemir, Z H, Posey, J E, Banka, S, Lupski, J R, Sheppard, S E, Tartaglia, M, Triggs-Raine, B, Crosby, A H & Baple, E L 2021, ' Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1016/j.gim.2021.10.014
Fasham, J, Lin, S, Ghosh, P, Radio, F C, Farrow, E G, Thiffault, I, Kussman, J, Zhou, D, Hemming, R, Zahka, K, Chioza, B A, Rawlins, L E, Wenger, O K, Gunning, A C, Pizzi, S, Onesimo, R, Zampino, G, Barker, E, Osawa, N, Rodriguez, M C, Neuhann, T M, Zackai, E H, Keena, B, Capasso, J, Levin, A V, Bhoj, E, Li, D, Hakonarson, H, Wentzensen, I M, Jackson, A, Chandler, K E, Coban-Akdemir, Z H, Posey, J E, Banka, S, Lupski, J R, Sheppard, S E, Tartaglia, M, Triggs-Raine, B, Crosby, A H & Baple, E L 2021, ' Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1016/j.gim.2021.10.014
PURPOSE: We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice displaying similar phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e42d4e3397b915b7bee7d0ec0d2355