Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21
Variant appearance in text: SYNE1: P8364L; rs148376885
Clinical genomic profiling of novel grey zone lymphoma paired lesions with sequential central nervous system involvement in two adolescent patients.
Haematologica
Benkli, Cagla Y CY; Marcogliese, Andrea N AN; Agrusa, Jennifer E JE; Adesina, Adekunle M AM; Weiner, Howard L HL; Fisher, Kevin E KE; Curry, Choladda V CV
Publication Date: 2021-09-01
Variant appearance in text: SYNE1: 25091C>T; Pro8364Leu
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Cold Spring Harbor Molecular Case Studies
Nordfors, Kristiina K; Haapasalo, Joonas J; Afyounian, Ebrahim E; Tuominen, Joonas J; Annala, Matti M; Häyrynen, Sergei S; Karhu, Ritva R; Helén, Pauli P; Lohi, Olli O; Nykter, Matti M; Haapasalo, Hannu H; Granberg, Kirsi J KJ
Publication Date: 2018-04
Variant appearance in text: SYNE1: 25091C>T; P8364L; rs148376885
Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.
Leukemia
Bouska, A A; Zhang, W W; Gong, Q Q; Iqbal, J J; Scuto, A A; Vose, J J; Ludvigsen, M M; Fu, K K; Weisenburger, D D DD; Greiner, T C TC; Gascoyne, R D RD; Rosenwald, A A; Ott, G G; Campo, E E; Rimsza, L M LM; Delabie, J J; Jaffe, E S ES; Braziel, R M RM; Connors, J M JM; Wu, C-I CI; Staudt, L M LM; D'Amore, F F; McKeithan, T W TW; Chan, W C WC
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L