Publications:

---

Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.

Acta Neuropathologica Communications

Lucas, Calixto-Hope G CG; Gupta, Rohit R; Doo, Pamela P; Lee, Julieann C JC; Cadwell, Cathryn R CR; Ramani, Biswarathan B; Hofmann, Jeffrey W JW; Sloan, Emily A EA; Kleinschmidt-DeMasters, Bette K BK; Lee, Han S HS; Wood, Matthew D MD; Grafe, Marjorie M; Born, Donald D; Vogel, Hannes H; Salamat, Shahriar S; Puccetti, Diane D; Scharnhorst, David D; Samuel, David D; Cooney, Tabitha T; Cham, Elaine E; Jin, Lee-Way LW; Khatib, Ziad Z; Maher, Ossama O; Chamyan, Gabriel G; Brathwaite, Carole C; Bannykh, Serguei S; Mueller, Sabine S; Kline, Cassie N CN; Banerjee, Anu A; Reddy, Alyssa A; Taylor, Jennie W JW; Clarke, Jennifer L JL; Oberheim Bush, Nancy Ann NA; Butowski, Nicholas N; Gupta, Nalin N; Auguste, Kurtis I KI; Sun, Peter P PP; Roland, Jarod L JL; Raffel, Corey C; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward E; Hervey-Jumper, Shawn S; Phillips, Joanna J JJ; Pekmezci, Melike M; Bollen, Andrew W AW; Tihan, Tarik T; Chang, Susan S; Berger, Mitchel S MS; Perry, Arie A; Solomon, David A DA

Publication Date: 2020-08-28

Variant appearance in text: NF1: I2058V

PubMed Link: 32859279

Variant Present in the following documents:

• Main text
• 40478_2020_1027_MOESM1_ESM.xlsx, sheet 2
• 40478_2020_Article_1027.pdf

View BVdb publication page

---

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Molecular Genetics & Genomic Medicine

Witkowski, Leora L; Dillon, Mitchell W MW; Murphy, Elissa E; S Lebo, Matthew M; Mason-Suares, Heather H

Publication Date: 2020-04

Variant appearance in text: NF1: 6172A>G; Ile2058Val

PubMed Link: 32107864

Variant Present in the following documents:

• MGG3-8-e1180-s001.pdf

View BVdb publication page

---

Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs201712827

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

---

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: NF1: I2058V

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NF1: 6172A>G; Ile2058Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: NF1: I2058V; rs201712827

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

---