Publications:

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Paediatric autoimmune diseases with ELANE mutations associated with neutropenia.

Pediatric Rheumatology Online Journal

Zhang, Dan D; Su, Gaixiu G; Hao, Sheng S; Lai, Jianming J; Feng, Shunqiao S

Publication Date: 2023-04-28

Variant appearance in text: NF1: 5425C>T

PubMed Link: 37118811

Variant Present in the following documents:

• 12969_2023_Article_824.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NF1: 5425C>T; Arg1809Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Neurologia Medico-Chirurgica

Higa, Nayuta N; Akahane, Toshiaki T; Yokoyama, Seiya S; Yonezawa, Hajime H; Uchida, Hiroyuki H; Fujio, Shingo S; Kirishima, Mari M; Takigawa, Kosuke K; Hata, Nobuhiro N; Toh, Keita K; Yamamoto, Junkoh J; Hanaya, Ryosuke R; Tanimoto, Akihide A; Yoshimoto, Koji K

Publication Date: 2022-09-15

Variant appearance in text: NF1: 5425C>T

PubMed Link: 36031351

Variant Present in the following documents:

• 1349-8029-62-0391-s001.pdf

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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: 5425C>T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1.

Nature Communications

Anastasaki, Corina C; Mo, Juan J; Chen, Ji-Kang JK; Chatterjee, Jit J; Pan, Yuan Y; Scheaffer, Suzanne M SM; Cobb, Olivia O; Monje, Michelle M; Le, Lu Q LQ; Gutmann, David H DH

Publication Date: 2022-05-19

Variant appearance in text: NF1: 5425C>T; Arg1809Cys

PubMed Link: 35589737

Variant Present in the following documents:

• 41467_2022_Article_30466.pdf

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Generation of human induced pluripotent stem cell-derived cerebral organoids for cellular and molecular characterization.

Star Protocols

Anastasaki, Corina C; Wilson, Anna F AF; Chen, Alexander S AS; Wegscheid, Michelle L ML; Gutmann, David H DH

Publication Date: 2022-03-18

Variant appearance in text: NF1: 5425C>T

PubMed Link: 35199037

Variant Present in the following documents:

• Main text
• main.pdf

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Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell Reports

Wegscheid, Michelle L ML; Anastasaki, Corina C; Hartigan, Kelly A KA; Cobb, Olivia M OM; Papke, Jason B JB; Traber, Jennifer N JN; Morris, Stephanie M SM; Gutmann, David H DH

Publication Date: 2021-07-06

Variant appearance in text: NF1: 5425C>T

PubMed Link: 34233200

Variant Present in the following documents:

• Main text
• nihms-1722138.pdf
• NIHMS1722138-supplement-2.pdf
• NIHMS1722138-supplement-1.pdf

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Genetic alteration of Chinese patients with rectal mucosal melanoma.

Bmc Cancer

Li, Huan H; Yang, Lujing L; Lai, Yumei Y; Wang, Xintong X; Han, Xinyin X; Liu, Siyao S; Wang, Dongliang D; Li, Xiaojuan X; Hu, Nana N; Kong, Yan Y; Si, Lu L; Li, Zhongwu Z

Publication Date: 2021-05-27

Variant appearance in text: NF1: 5425C>T; R1809C

PubMed Link: 34044811

Variant Present in the following documents:

• 12885_2021_8383_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 5425C>T; R1809C

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: NF1: 5425C>T; R1809C

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry.

Jci Insight

Tabata, Mika M MM; Li, Shufeng S; Knight, Pamela P; Bakker, Annette A; Sarin, Kavita Y KY

Publication Date: 2020-08-20

Variant appearance in text: NF1: 5425C>T

PubMed Link: 32814709

Variant Present in the following documents:

• Main text
• jciinsight-5-136262.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: NF1: 5425C>T

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Ebiomedicine

Shi, Yuankai Y; Su, Hang H; Song, Yongping Y; Jiang, Wenqi W; Sun, Xiuhua X; Qian, Wenbin W; Zhang, Wei W; Gao, Yuhuan Y; Jin, Zhengming Z; Zhou, Jianfeng J; Jin, Chuan C; Zou, Liqun L; Qiu, Lugui L; Li, Wei W; Yang, Jianmin J; Hou, Ming M; Xiong, Yan Y; Zhou, Hui H; Du, Xinhua X; Wang, Xiong X; Peng, Bo B

Publication Date: 2020-04

Variant appearance in text: NF1: 5425C>T; P1809S

PubMed Link: 32304999

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.

Stem Cell Reports

Anastasaki, Corina C; Wegscheid, Michelle L ML; Hartigan, Kelly K; Papke, Jason B JB; Kopp, Nathan D ND; Chen, Jiayang J; Cobb, Olivia O; Dougherty, Joseph D JD; Gutmann, David H DH

Publication Date: 2020-04-14

Variant appearance in text: NF1: 5425C>T

PubMed Link: 32243842

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 5425C>T; Arg1809Cys

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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Cutaneous neurofibromas in the genomics era: current understanding and open questions.

British Journal Of Cancer

Allaway, Robert J RJ; Gosline, Sara J C SJC; La Rosa, Salvatore S; Knight, Pamela P; Bakker, Annette A; Guinney, Justin J; Le, Lu Q LQ

Publication Date: 2018-06

Variant appearance in text: NF1: 5425C>T

PubMed Link: 29695767

Variant Present in the following documents:

• Main text
• 41416_2018_Article_73.pdf

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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Italian Journal Of Pediatrics

Santoro, Claudia C; Bernardo, Pia P; Coppola, Antonietta A; Pugliese, Umberto U; Cirillo, Mario M; Giugliano, Teresa T; Piluso, Giulio G; Cinalli, Giuseppe G; Striano, Salvatore S; Bravaccio, Carmela C; Perrotta, Silverio S

Publication Date: 2018-03-22

Variant appearance in text: NF1: 5425C>T

PubMed Link: 29566708

Variant Present in the following documents:

• Main text

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The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.

Oncotargets And Therapy

Yang, Fan F; Xu, Song S; Liu, Renwang R; Shi, Tao T; Li, Xiongfei X; Li, Xuebing X; Chen, Gang G; Liu, Hongyu H; Zhou, Qinghua Q; Chen, Jun J

Publication Date: 2018

Variant appearance in text: NF1: 5425C>T

PubMed Link: 29503567

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Genome Medicine

Li, Alexander H AH; Hanchard, Neil A NA; Furthner, Dieter D; Fernbach, Susan S; Azamian, Mahshid M; Nicosia, Annarita A; Rosenfeld, Jill J; Muzny, Donna D; D'Alessandro, Lisa C A LCA; Morris, Shaine S; Jhangiani, Shalini S; Parekh, Dhaval R DR; Franklin, Wayne J WJ; Lewin, Mark M; Towbin, Jeffrey A JA; Penny, Daniel J DJ; Fraser, Charles D CD; Martin, James F JF; Eng, Christine C; Lupski, James R JR; Gibbs, Richard A RA; Boerwinkle, Eric E; Belmont, John W JW

Publication Date: 2017-10-31

Variant appearance in text: NF1: 5425C>T

PubMed Link: 29089047

Variant Present in the following documents:

• 13073_2017_482_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Von recklinghausen disease: one patient - various problems.

Balkan Journal Of Medical Genetics : Bjmg

Bergler-Czop, B B; Miziołek, B B; Brzezińska-Wcisło, L L

Publication Date: 2016-07-01

Variant appearance in text: NF1: 5425C>T

PubMed Link: 27785414

Variant Present in the following documents:

• Main text
• bjmg-2016-0013.pdf

View BVdb publication page

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Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates.

Nature Communications

Chitsazzadeh, Vida V; Coarfa, Cristian C; Drummond, Jennifer A JA; Nguyen, Tri T; Joseph, Aaron A; Chilukuri, Suneel S; Charpiot, Elizabeth E; Adelmann, Charles H CH; Ching, Grace G; Nguyen, Tran N TN; Nicholas, Courtney C; Thomas, Valencia D VD; Migden, Michael M; MacFarlane, Deborah D; Thompson, Erika E; Shen, Jianjun J; Takata, Yoko Y; McNiece, Kayla K; Polansky, Maxim A MA; Abbas, Hussein A HA; Rajapakshe, Kimal K; Gower, Adam A; Spira, Avrum A; Covington, Kyle R KR; Xiao, Weimin W; Gunaratne, Preethi P; Pickering, Curtis C; Frederick, Mitchell M; Myers, Jeffrey N JN; Shen, Li L; Yao, Hui H; Su, Xiaoping X; Rapini, Ronald P RP; Wheeler, David A DA; Hawk, Ernest T ET; Flores, Elsa R ER; Tsai, Kenneth Y KY

Publication Date: 2016-08-30

Variant appearance in text: NF1: P1809S

PubMed Link: 27574101

Variant Present in the following documents:

• ncomms12601-s2.xlsx, sheet 1

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Exploring the genetic basis for clinical variation in neurofibromatosis type 1.

Expert Review Of Neurotherapeutics

Gutmann, David H DH

Publication Date: 2016-09

Variant appearance in text: NF1: 5425C>T

PubMed Link: 27171602

Variant Present in the following documents:

• Main text

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NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.

Human Molecular Genetics

Toonen, Joseph A JA; Anastasaki, Corina C; Smithson, Laura J LJ; Gianino, Scott M SM; Li, Kairong K; Kesterson, Robert A RA; Gutmann, David H DH

Publication Date: 2016-05-01

Variant appearance in text: NF1: 5425C>T

PubMed Link: 26908603

Variant Present in the following documents:

• Main text

View BVdb publication page

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Human Mutation

Rojnueangnit, Kitiwan K; Xie, Jing J; Gomes, Alicia A; Sharp, Angela A; Callens, Tom T; Chen, Yunjia Y; Liu, Ying Y; Cochran, Meagan M; Abbott, Mary-Alice MA; Atkin, Joan J; Babovic-Vuksanovic, Dusica D; Barnett, Christopher P CP; Crenshaw, Melissa M; Bartholomew, Dennis W DW; Basel, Lina L; Bellus, Gary G; Ben-Shachar, Shay S; Bialer, Martin G MG; Bick, David D; Blumberg, Bruce B; Cortes, Fanny F; David, Karen L KL; Destree, Anne A; Duat-Rodriguez, Anna A; Earl, Dawn D; Escobar, Luis L; Eswara, Marthanda M; Ezquieta, Begona B; Frayling, Ian M IM; Frydman, Moshe M; Gardner, Kathy K; Gripp, Karen W KW; Hernández-Chico, Concepcion C; Heyrman, Kurt K; Ibrahim, Jennifer J; Janssens, Sandra S; Keena, Beth A BA; Llano-Rivas, Isabel I; Leppig, Kathy K; McDonald, Marie M; Misra, Vinod K VK; Mulbury, Jennifer J; Narayanan, Vinodh V; Orenstein, Naama N; Galvin-Parton, Patricia P; Pedro, Helio H; Pivnick, Eniko K EK; Powell, Cynthia M CM; Randolph, Linda L; Raskin, Salmo S; Rosell, Jordi J; Rubin, Karol K; Seashore, Margretta M; Schaaf, Christian P CP; Scheuerle, Angela A; Schultz, Meredith M; Schorry, Elizabeth E; Schnur, Rhonda R; Siqveland, Elizabeth E; Tkachuk, Amanda A; Tonsgard, James J; Upadhyaya, Meena M; Verma, Ishwar C IC; Wallace, Stephanie S; Williams, Charles C; Zackai, Elaine E; Zonana, Jonathan J; Lazaro, Conxi C; Claes, Kathleen K; Korf, Bruce B; Martin, Yolanda Y; Legius, Eric E; Messiaen, Ludwine L

Publication Date: 2015-11

Variant appearance in text: NF1: 5425C>T; Arg1809Cys

PubMed Link: 26178382

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

European Journal Of Human Genetics : Ejhg

Santoro, Claudia C; Maietta, Anna A; Giugliano, Teresa T; Melis, Daniela D; Perrotta, Silverio S; Nigro, Vincenzo V; Piluso, Giulio G

Publication Date: 2015-11

Variant appearance in text: NF1: 5425C>T

PubMed Link: 25966637

Variant Present in the following documents:

• Main text

View BVdb publication page

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Legius syndrome: case report and review of literature.

Italian Journal Of Pediatrics

Benelli, Elisa E; Bruno, Irene I; Belcaro, Chiara C; Ventura, Alessandro A; Berti, Irene I

Publication Date: 2015-02-08

Variant appearance in text: NF1: 5425C>T

PubMed Link: 25883013

Variant Present in the following documents:

• Main text
• 13052_2015_Article_115.pdf

View BVdb publication page

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Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

Human Molecular Genetics

Anastasaki, Corina C; Woo, Albert S AS; Messiaen, Ludwine M LM; Gutmann, David H DH

Publication Date: 2015-06-15

Variant appearance in text: NF1: 5425C>T

PubMed Link: 25788518

Variant Present in the following documents:

• Main text

View BVdb publication page

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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

European Journal Of Human Genetics : Ejhg

Pinna, Valentina V; Lanari, Valentina V; Daniele, Paola P; Consoli, Federica F; Agolini, Emanuele E; Margiotti, Katia K; Bottillo, Irene I; Torrente, Isabella I; Bruselles, Alessandro A; Fusilli, Caterina C; Ficcadenti, Anna A; Bargiacchi, Sara S; Trevisson, Eva E; Forzan, Monica M; Giustini, Sandra S; Leoni, Chiara C; Zampino, Giuseppe G; Digilio, Maria Cristina MC; Dallapiccola, Bruno B; Clementi, Maurizio M; Tartaglia, Marco M; De Luca, Alessandro A

Publication Date: 2015-08

Variant appearance in text: NF1: 5425C>T; Arg1809Cys

PubMed Link: 25370043

Variant Present in the following documents:

• Main text

View BVdb publication page

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