Publications:

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.

Orphanet Journal Of Rare Diseases

Chunn, Lauren M LM; Bissonnette, Jeffrey J; Heinrich, Stefanie V SV; Mercurio, Stephanie A SA; Kiel, Mark J MJ; Rutsch, Frank F; Ferreira, Carlos R CR

Publication Date: 2022-12-02

Variant appearance in text: TG: 500del

PubMed Link: 36461014

Variant Present in the following documents:

• 13023_2022_2577_MOESM2_ESM.xlsx, sheet 1

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Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.

Orphanet Journal Of Rare Diseases

Feng, Junqi J; Yang, Chenxi C; Zhu, Ling L; Zhang, Yuchen Y; Zhao, Xiaoxu X; Chen, Chi C; Chen, Qi-Xing QX; Shu, Qiang Q; Jiang, Pingping P; Tong, Fan F

Publication Date: 2021-09-20

Variant appearance in text: TG: 500delG

PubMed Link: 34544473

Variant Present in the following documents:

• 13023_2021_2018_MOESM1_ESM.pdf

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A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

The Journal Of Experimental Medicine

Bonnard, Carine C; Navaratnam, Naveenan N; Ghosh, Kakaly K; Chan, Puck Wee PW; Tan, Thong Teck TT; Pomp, Oz O; Ng, Alvin Yu Jin AYJ; Tohari, Sumanty S; Changede, Rishita R; Carling, David D; Venkatesh, Byrappa B; Altunoglu, Umut U; Kayserili, Hülya H; Reversade, Bruno B

Publication Date: 2020-12-07

Variant appearance in text: TG: 500delG

PubMed Link: 32845958

Variant Present in the following documents:

• JEM_20191561_TableS1.xlsx, sheet 4
• JEM_20191561_TableS1.xlsx, sheet 2

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Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications

Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S

Publication Date: 2020-08-24

Variant appearance in text: TG: 500delG

PubMed Link: 32839463

Variant Present in the following documents:

• 41467_2020_17880_MOESM5_ESM.xlsx, sheet 1

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Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology

Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R

Publication Date: 2019-11-19

Variant appearance in text: TG: 500del

PubMed Link: 31744508

Variant Present in the following documents:

• 13045_2019_802_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page