Publications:

---

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: USH2A: 6683T>A; Val2228Glu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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: USH2A: V2228E; rs117461552

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.

Clinics And Practice

Milibari, Doaa D; Magliyah, Moustafa M; Semidey, Valmore A VA; Schatz, Patrik P; ALBalawi, Hani B HB

Publication Date: 2022-07-05

Variant appearance in text: USH2A: Val2228Glu

PubMed Link: 35892439

Variant Present in the following documents:

• clinpract-12-00053.pdf

View BVdb publication page

---

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: rs117461552

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Jci Insight

Tang, Clara Sze Man CSM; Mononen, Mimmi M; Lam, Wai-Yee WY; Jin, Sheng Chih SC; Zhuang, Xuehan X; Garcia-Barcelo, Maria-Mercè MM; Lin, Qiongfen Q; Yang, Yujia Y; Sahara, Makoto M; Eroglu, Elif E; Chien, Kenneth R KR; Hong, Haifa H; Tam, Paul Kwong Hang PKH; Gruber, Peter J PJ

Publication Date: 2022-01-25

Variant appearance in text: USH2A: 6683T>A; Val2228Glu

PubMed Link: 34905512

Variant Present in the following documents:

• jciinsight-7-152198-s012.xlsx, sheet 8

View BVdb publication page

---

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: USH2A: V2228E

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_ESM.xlsx, sheet 1
• 12920_2021_874_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: USH2A: V2228E

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 57

View BVdb publication page

---

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Scientific Reports

Huang, Lulin L; Zhang, Qi Q; Huang, Xin X; Qu, Chao C; Ma, Shi S; Mao, Yao Y; Yang, Jiyun J; Li, You Y; Li, Yuanfeng Y; Tan, Chang C; Zhao, Peiquan P; Yang, Zhenglin Z

Publication Date: 2017-05-16

Variant appearance in text: USH2A: Val2228Glu

PubMed Link: 28512305

Variant Present in the following documents:

• Main text
• 41598_2017_Article_963.pdf

View BVdb publication page

---

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Bmc Genomics

Yoon, Chang-Ki CK; Kim, Nayoung K D NK; Joung, Je-Gun JG; Shin, Joo Young JY; Park, Jung Hyun JH; Eum, Hye-Hyun HH; Lee, Hae-Ock HO; Park, Woong-Yang WY; Yu, Hyeong Gon HG

Publication Date: 2015-07-09

Variant appearance in text: USH2A: V2228E

PubMed Link: 26155838

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1723.pdf

View BVdb publication page

---