Publications:

---

Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery

Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI

Publication Date: 2023-03-02

Variant appearance in text: NF1: 3449C>G; S1150*; rs1555614972

PubMed Link: 36862804

Variant Present in the following documents:

• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 10

View BVdb publication page

---

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: NF1: 3449C>G; S1150*

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: NF1: S1150*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: NF1: 3449C>G; Ser1150*

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

---

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: NF1: S1150X

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Nature Genetics

Cousin, Margot A MA; Creighton, Blake A BA; Breau, Keith A KA; Spillmann, Rebecca C RC; Torti, Erin E; Dontu, Sruthi S; Tripathi, Swarnendu S; Ajit, Deepa D; Edwards, Reginald J RJ; Afriyie, Simone S; Bay, Julia C JC; Harper, Kathryn M KM; Beltran, Alvaro A AA; Munoz, Lorena J LJ; Falcon Rodriguez, Liset L; Stankewich, Michael C MC; Person, Richard E RE; Si, Yue Y; Normand, Elizabeth A EA; Blevins, Amy A; May, Alison S AS; Bier, Louise L; Aggarwal, Vimla V; Mancini, Grazia M S GMS; van Slegtenhorst, Marjon A MA; Cremer, Kirsten K; Becker, Jessica J; Engels, Hartmut H; Aretz, Stefan S; MacKenzie, Jennifer J JJ; Brilstra, Eva E; van Gassen, Koen L I KLI; van Jaarsveld, Richard H RH; Oegema, Renske R; Parsons, Gretchen M GM; Mark, Paul P; Helbig, Ingo I; McKeown, Sarah E SE; Stratton, Robert R; Cogne, Benjamin B; Isidor, Bertrand B; Cacheiro, Pilar P; Smedley, Damian D; Firth, Helen V HV; Bierhals, Tatjana T; Kloth, Katja K; Weiss, Deike D; Fairley, Cecilia C; Shieh, Joseph T JT; Kritzer, Amy A; Jayakar, Parul P; Kurtz-Nelson, Evangeline E; Bernier, Raphael A RA; Wang, Tianyun T; Eichler, Evan E EE; van de Laar, Ingrid M B H IMBH; McConkie-Rosell, Allyn A; McDonald, Marie T MT; Kemppainen, Jennifer J; Lanpher, Brendan C BC; Schultz-Rogers, Laura E LE; Gunderson, Lauren B LB; Pichurin, Pavel N PN; Yoon, Grace G; Zech, Michael M; Jech, Robert R; Winkelmann, Juliane J; , ; , ; Beltran, Adriana S AS; Zimmermann, Michael T MT; Temple, Brenda B; Moy, Sheryl S SS; Klee, Eric W EW; Tan, Queenie K-G QK; Lorenzo, Damaris N DN

Publication Date: 2021-07

Variant appearance in text: NF1: 3449C>G; S1150*

PubMed Link: 34211179

Variant Present in the following documents:

• Main text
• NIHMS1704971-supplement-Peer_Review_File.pdf
• nihms-1704971.pdf

View BVdb publication page

---

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Nature Genetics

Cousin, Margot A MA; Creighton, Blake A BA; Breau, Keith A KA; Spillmann, Rebecca C RC; Torti, Erin E; Dontu, Sruthi S; Tripathi, Swarnendu S; Ajit, Deepa D; Edwards, Reginald J RJ; Afriyie, Simone S; Bay, Julia C JC; Harper, Kathryn M KM; Beltran, Alvaro A AA; Munoz, Lorena J LJ; Falcon Rodriguez, Liset L; Stankewich, Michael C MC; Person, Richard E RE; Si, Yue Y; Normand, Elizabeth A EA; Blevins, Amy A; May, Alison S AS; Bier, Louise L; Aggarwal, Vimla V; Mancini, Grazia M S GMS; van Slegtenhorst, Marjon A MA; Cremer, Kirsten K; Becker, Jessica J; Engels, Hartmut H; Aretz, Stefan S; MacKenzie, Jennifer J JJ; Brilstra, Eva E; van Gassen, Koen L I KLI; van Jaarsveld, Richard H RH; Oegema, Renske R; Parsons, Gretchen M GM; Mark, Paul P; Helbig, Ingo I; McKeown, Sarah E SE; Stratton, Robert R; Cogne, Benjamin B; Isidor, Bertrand B; Cacheiro, Pilar P; Smedley, Damian D; Firth, Helen V HV; Bierhals, Tatjana T; Kloth, Katja K; Weiss, Deike D; Fairley, Cecilia C; Shieh, Joseph T JT; Kritzer, Amy A; Jayakar, Parul P; Kurtz-Nelson, Evangeline E; Bernier, Raphael A RA; Wang, Tianyun T; Eichler, Evan E EE; van de Laar, Ingrid M B H IMBH; McConkie-Rosell, Allyn A; McDonald, Marie T MT; Kemppainen, Jennifer J; Lanpher, Brendan C BC; Schultz-Rogers, Laura E LE; Gunderson, Lauren B LB; Pichurin, Pavel N PN; Yoon, Grace G; Zech, Michael M; Jech, Robert R; Winkelmann, Juliane J; , ; , ; Beltran, Adriana S AS; Zimmermann, Michael T MT; Temple, Brenda B; Moy, Sheryl S SS; Klee, Eric W EW; Tan, Queenie K-G QK; Lorenzo, Damaris N DN

Publication Date: 2021-07

Variant appearance in text: NF1: 3449C>G; S1150*

PubMed Link: 34211179

Variant Present in the following documents:

• Main text
• NIHMS1704971-supplement-Peer_Review_File.pdf
• nihms-1704971.pdf

View BVdb publication page

---

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: NF1: 3449C>G; S1150X

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: NF1: S1150*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

---

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Frontiers In Oncology

Li, Hainan H; Shan, Changguo C; Wu, Shengnan S; Cheng, Baijie B; Fan, Chongzu C; Cai, Linbo L; Chen, Yedan Y; Shi, Yuqian Y; Liu, Kaihua K; Shao, Yang Y; Zhu, Dan D; Li, Zhi Z

Publication Date: 2020

Variant appearance in text: NF1: S1150*

PubMed Link: 33747896

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

Case report: 16-yr life history and genomic evolution of an ER+ HER2- breast cancer.

Cold Spring Harbor Molecular Case Studies

Xu, Bing B; Amallraja, Anu A; Swaminathan, Padmapriya P; Elsey, Rachel R; Davis, Christel C; Theel, Stephanie S; Viet, Sarah S; Petersen, Jason J; Krie, Amy A; Davies, Gareth G; Williams, Casey B CB; Ehli, Erik E; Meißner, Tobias T

Publication Date: 2020-12

Variant appearance in text: NF1: 3449C>G; S1150*; rs1555614972

PubMed Link: 33008833

Variant Present in the following documents:

• MCS005629Xu.pdf
• supp_mcs.a005629_Supplemental_Files_1-5.pdf

View BVdb publication page

---

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Translational Psychiatry

Husson, Thomas T; Lecoquierre, François F; Cassinari, Kevin K; Charbonnier, Camille C; Quenez, Olivier O; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Richard, Anne-Claire AC; Drouin-Garraud, Valérie V; Brehin, Anne-Claire AC; Soleimani, Maryam M; Taton, Romain R; Rotharmel, Maud M; Rosier, Antoine A; Chambon, Pascal P; Le Meur, Nathalie N; Joly-Helas, Géraldine G; Saugier-Veber, Pascale P; Boland, Anne A; Deleuze, Jean-François JF; Olaso, Robert R; Frebourg, Thierry T; Nicolas, Gael G; Guillin, Olivier O; Campion, Dominique D

Publication Date: 2020-02-24

Variant appearance in text: NF1: 3449C>G; Ser1150*

PubMed Link: 32094338

Variant Present in the following documents:

• 41398_2020_760_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: NF1: S1150*

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

---

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Science Advances

Luo, Weijun W; Zhang, Chaolin C; Jiang, Yong-Hui YH; Brouwer, Cory R CR

Publication Date: 2018-04

Variant appearance in text: NF1: S1150*

PubMed Link: 29651456

Variant Present in the following documents:

• 1701799_TableS5.xlsx, sheet 2

View BVdb publication page

---

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: NF1: 3449C>G; Ser1150Ter

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

View BVdb publication page

---

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: NF1: S1150*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table7.xlsx, sheet 1

View BVdb publication page

---

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Oncotarget

Jean, Stephanie S; Li, Jiaqi J; Katsaros, Dionyssios D; Wubbenhorst, Bradley B; Maxwell, Kara N KN; Fishbein, Lauren L; McLane, Michael W MW; Benedetto, Chiara C; Canuto, Emilie Marion EM; Mitra, Nandita N; Zhang, Lin L; Nathanson, Katherine L KL; Tanyi, Janos L JL

Publication Date: 2016-07-26

Variant appearance in text: NF1: S1150X

PubMed Link: 27191893

Variant Present in the following documents:

• oncotarget-07-48577-s002.xlsx, sheet 1

View BVdb publication page

---