المؤلفون: Biesecker, Leslie G.¹ (AUTHOR) lesb@mail.nih.gov, Byrne, Alicia B.² (AUTHOR), Harrison, Steven M.^2,3 (AUTHOR), Pesaran, Tina³ (AUTHOR), Schäffer, Alejandro A.⁴ (AUTHOR), Shirts, Brian H.⁵ (AUTHOR), Tavtigian, Sean V.⁶ (AUTHOR), Rehm, Heidi L.^2,7 (AUTHOR)

المصدر: American Journal of Human Genetics. Jan2024, Vol. 111 Issue 1, p24-38. 15p.

مصطلحات موضوعية: *MEDICAL genetics, *MOLECULAR pathology, *PHENOTYPES, *MEDICAL genomics, *RECESSIVE genes, *MOLECULAR association

المؤلفون: Walker, Logan C.¹ (AUTHOR), Hoya, Miguel de la² (AUTHOR), Wiggins, George A.R.¹ (AUTHOR), Lindy, Amanda³ (AUTHOR), Vincent, Lisa M.⁴ (AUTHOR), Parsons, Michael T.⁵ (AUTHOR), Canson, Daffodil M.⁵ (AUTHOR), Bis-Brewer, Dana³ (AUTHOR), Cass, Ashley⁶ (AUTHOR), Tchourbanov, Alexander⁶ (AUTHOR), Zimmermann, Heather⁶ (AUTHOR), Byrne, Alicia B.⁷ (AUTHOR), Pesaran, Tina⁶ (AUTHOR), Karam, Rachid⁶ (AUTHOR), Harrison, Steven M.^1,6,7 (AUTHOR) sharriso@broadinstitute.org, Spurdle, Amanda B.^5,8 (AUTHOR)

المصدر: American Journal of Human Genetics. Jul2023, Vol. 110 Issue 7, p1046-1067. 22p.

مصطلحات موضوعية: *MEDICAL genetics, *MOLECULAR pathology, *MEDICAL genomics, *DECISION trees, *RNA splicing

المؤلفون: Li, Quan¹, Wang, Kai^1,2,3 kw2701@cumc.columbia.edu

المصدر: American Journal of Human Genetics. Feb2017, Vol. 100 Issue 2, p267-280. 14p.

مصطلحات موضوعية: *GENETIC disorder diagnosis, *COMPUTATIONAL biology, *COMPUTER algorithms, *CLINICAL trials

الشركة/الكيان: ASSOCIATION for Molecular Pathology

المؤلفون: Carss, Keren J.^1,2, Arno, Gavin^2,3,4, Erwood, Marie^1,2, Stephens, Jonathan^1,2, Sanchis-Juan, Alba^1,2, Hull, Sarah^3,4, Megy, Karyn^1,2, Grozeva, Detelina^2,5, Dewhurst, Eleanor^1,2, Malka, Samantha^3,4, Plagnol, Vincent⁶, Penkett, Christopher^1,2, Stirrups, Kathleen^1,2, Rizzo, Roberta⁴, Wright, Genevieve⁴, Josifova, Dragana^2,7, Bitner-Glindzicz, Maria^2,8, Scott, Richard H.^2,9, Clement, Emma^2,10, Allen, Louise^2,11

المصدر: American Journal of Human Genetics. Jan2017, Vol. 100 Issue 1, p75-90. 16p.

مصطلحات موضوعية: *NUCLEOTIDE sequencing, *MOLECULAR pathology, *RETINAL diseases, *RARE diseases, *SINGLE nucleotide polymorphisms

المؤلفون: Jarvik, Gail P.¹ pair@u.washington.edu, Browning, Brian L.¹

المصدر: American Journal of Human Genetics. Jun2016, Vol. 98 Issue 6, p1077-1081. 5p.

مصطلحات موضوعية: *MICROBIAL virulence, *MEDICAL genetics, *MEDICAL genomics, *QUANTITATIVE research

الشركة/الكيان: ASSOCIATION for Molecular Pathology

المؤلفون: Amendola, Laura M.¹, Jarvik, Gail P.¹ pair@u.washington.edu, Leo, Michael C.², McLaughlin, Heather M.³, Akkari, Yassmine⁴, Amaral, Michelle D.⁵, Berg, Jonathan S.⁶, Biswas, Sawona⁷, Bowling, Kevin M.⁵, Conlin, Laura K.⁷, Cooper, Greg M.⁵, Dorschner, Michael O.⁸, Dulik, Matthew C.⁹, Ghazani, Arezou A.¹⁰, Ghosh, Rajarshi¹¹, Green, Robert C.^3,12,13, Hart, Ragan¹, Horton, Carrie¹⁴, Johnston, Jennifer J.¹⁵, Lebo, Matthew S.^3,12

المصدر: American Journal of Human Genetics. Jun2016, Vol. 98 Issue 6, p1067-1076. 10p.

مصطلحات موضوعية: *GENETIC disorder diagnosis, *MOLECULAR diagnosis, *MENDEL'S law, *NUCLEOTIDE sequencing

الشركة/الكيان: ASSOCIATION for Molecular Pathology

المؤلفون: Nie, Xiu¹ (AUTHOR), Qian, Liujia^1,2,3,4 (AUTHOR), Sun, Rui^1,2,3,4 (AUTHOR), Huang, Bo¹ (AUTHOR), Dong, Xiaochuan¹ (AUTHOR), Xiao, Qi^1,2,3,4 (AUTHOR), Zhang, Qiushi^1,2,3,4,5 (AUTHOR), Lu, Tian^2,3,4 (AUTHOR), Yue, Liang^2,3,4 (AUTHOR), Chen, Shuo¹ (AUTHOR), Li, Xiang¹ (AUTHOR), Sun, Yaoting^2,3,4 (AUTHOR), Li, Lu^2,3,4 (AUTHOR), Xu, Luang^2,3,4 (AUTHOR), Li, Yan^1,6 (AUTHOR), Yang, Ming¹ (AUTHOR), Xue, Zhangzhi^2,3,4 (AUTHOR), Liang, Shuang^2,3,4 (AUTHOR), Ding, Xuan^2,3,4 (AUTHOR), Yuan, Chunhui^2,3,4 (AUTHOR)

المصدر: Cell. Feb2021, Vol. 184 Issue 3, p775-775. 1p.

مصطلحات موضوعية: *COVID-19, *MOLECULAR pathology, *AUTOPSY, *PROTEOMICS, *LEYDIG cells, *ANGIOTENSIN converting enzyme

المؤلفون: Kim, Eunhee^1,2 (AUTHOR), Kim, Hyeonwoo^3,4,5 (AUTHOR), Jedrychowski, Mark P.^3,4 (AUTHOR), Bakiasi, Grisilda^1,2 (AUTHOR), Park, Joseph^1,2 (AUTHOR), Kruskop, Jane^1,2 (AUTHOR), Choi, Younjung^1,2 (AUTHOR), Kwak, Sang Su^1,2 (AUTHOR), Quinti, Luisa^1,2 (AUTHOR), Kim, Doo Yeon^1,2 (AUTHOR), Wrann, Christiane D.^2,6 (AUTHOR), Spiegelman, Bruce M.^3,4 (AUTHOR), Tanzi, Rudolph E.^1,2 (AUTHOR) tanzi@helix.mgh.harvard.edu, Choi, Se Hoon^1,2 (AUTHOR) choi.sehoon@mgh.harvard.edu

المصدر: Neuron. Nov2023, Vol. 111 Issue 22, p3619-3619. 1p.

مصطلحات موضوعية: *NEPRILYSIN, *CELL culture, *MOLECULAR pathology, *IRISIN, *ASTROCYTES, *ALZHEIMER'S disease, *DOWNREGULATION

المؤلفون: Nagaraja, Surya^1,2 (AUTHOR), Quezada, Michael A.¹ (AUTHOR), Gillespie, Shawn M.¹ (AUTHOR), Arzt, Marlene¹ (AUTHOR), Lennon, James J.¹ (AUTHOR), Woo, Pamelyn J.¹ (AUTHOR), Hovestadt, Volker^3,4,5 (AUTHOR), Kambhampati, Madhuri⁶ (AUTHOR), Filbin, Mariella G.^5,7 (AUTHOR), Suva, Mario L.^3,4,5 (AUTHOR), Nazarian, Javad^6,8,9 (AUTHOR), Monje, Michelle^{1,2,10,11,12,13} (AUTHOR) mmonje@stanford.edu

المصدر: Molecular Cell. Dec2019, Vol. 76 Issue 6, p965-965. 1p.

مصطلحات موضوعية: *MOLECULAR pathology, *BRAIN tumors, *PATHOLOGY, *CHILDHOOD cancer, *GLIOMAS, *CELLS, *HISTONES, *EPIGENOMICS

المؤلفون: Sundaram, Balamurugan¹ (AUTHOR), Pandian, Nagakannan¹ (AUTHOR), Mall, Raghvendra¹ (AUTHOR), Wang, Yaqiu¹ (AUTHOR), Sarkar, Roman¹ (AUTHOR), Kim, Hee Jin¹ (AUTHOR), Malireddi, R.K. Subbarao¹ (AUTHOR), Karki, Rajendra¹ (AUTHOR), Janke, Laura J.² (AUTHOR), Vogel, Peter² (AUTHOR), Kanneganti, Thirumala-Devi¹ (AUTHOR) thirumala-devi.kanneganti@stjude.org

المصدر: Cell. Jun2023, Vol. 186 Issue 13, p2783-2783. 1p.

مصطلحات موضوعية: *HEME, *CELL death, *MOLECULAR pathology, *ACUTE kidney failure, *PATHOLOGY, *INFLAMMASOMES