Publications:

---

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: NF1: 1721+3A>G

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

---

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: 1721+3A>G

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs1057518904

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: NF1: 1721+3A>G

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

---

Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics

Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH

Publication Date: 2017-10

Variant appearance in text: NF1: 1721+3A>G

PubMed Link: 28955729

Variant Present in the following documents:

• supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf

View BVdb publication page

---

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Breast Cancer Research And Treatment

Pritzlaff, Mary M; Summerour, Pia P; McFarland, Rachel R; Li, Shuwei S; Reineke, Patrick P; Dolinsky, Jill S JS; Goldgar, David E DE; Shimelis, Hermela H; Couch, Fergus J FJ; Chao, Elizabeth C EC; LaDuca, Holly H

Publication Date: 2017-02

Variant appearance in text: NF1: 1721+3A>G

PubMed Link: 28008555

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

Scientific Reports

Zhang, Jia J; Tong, Hanxing H; Fu, Xi'an X; Zhang, Yong Y; Liu, Jiangbo J; Cheng, Ruhong R; Liang, Jianying J; Peng, Jie J; Sun, Zhonghui Z; Liu, Hong H; Zhang, Furen F; Lu, Weiqi W; Li, Ming M; Yao, Zhirong Z

Publication Date: 2015-06-09

Variant appearance in text: NF1: 1721+3A>G

PubMed Link: 26056819

Variant Present in the following documents:

• srep11291-s1.pdf

View BVdb publication page

---

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Genetic Testing And Molecular Biomarkers

Maruoka, Ryo R; Takenouchi, Toshiki T; Torii, Chiharu C; Shimizu, Atsushi A; Misu, Kumiko K; Higasa, Koichiro K; Matsuda, Fumihiko F; Ota, Arihito A; Tanito, Katsumi K; Kuramochi, Akira A; Arima, Yoshimi Y; Otsuka, Fujio F; Yoshida, Yuichi Y; Moriyama, Keiji K; Niimura, Michihito M; Saya, Hideyuki H; Kosaki, Kenjiro K

Publication Date: 2014-11

Variant appearance in text: NF1: 1721+3A>G

PubMed Link: 25325900

Variant Present in the following documents:

• Main text

View BVdb publication page

---