Publications:

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: USH2A: L3982L; rs2820718

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: USH2A: L3982L; rs2820718

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: USH2A: 11946G>A; L3982L; rs2820718

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: USH2A: 11946G>A; Leu3982Leu

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics

Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M

Publication Date: 2020-09-01

Variant appearance in text: USH2A: 11946G>A

PubMed Link: 32867697

Variant Present in the following documents:

• 12881_2020_1110_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Widefield Swept Source OCTA in Retinitis Pigmentosa.

Diagnostics (Basel, Switzerland)

Mastropasqua, Rodolfo R; D'Aloisio, Rossella R; De Nicola, Chiara C; Ferro, Giada G; Senatore, Alfonso A; Libertini, Daniele D; Di Marzio, Guido G; Di Nicola, Marta M; Di Martino, Giuseppe G; Di Antonio, Luca L; Toto, Lisa L

Publication Date: 2020-01-19

Variant appearance in text: USH2A: 11946G>A; L3982L

PubMed Link: 31963847

Variant Present in the following documents:

• Main text
• diagnostics-10-00050.pdf

View BVdb publication page

---

Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation.

Genes

Zupan, Andrej A; Fakin, Ana A; Battelino, Saba S; Jarc-Vidmar, Martina M; Hawlina, Marko M; Bonnet, Crystel C; Petit, Christine C; Glavač, Damjan D

Publication Date: 2019-12-05

Variant appearance in text: rs2820718

PubMed Link: 31817543

Variant Present in the following documents:

• Main text
• genes-10-01015.pdf

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: USH2A: 11946G>A; Leu3982=; rs2820718

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2820718

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: USH2A: L3982L; rs2820718

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Orphanet Journal Of Rare Diseases

Garcia-Garcia, Gema G; Aparisi, Maria J MJ; Jaijo, Teresa T; Rodrigo, Regina R; Leon, Ana M AM; Avila-Fernandez, Almudena A; Blanco-Kelly, Fiona F; Bernal, Sara S; Navarro, Rafael R; Diaz-Llopis, Manuel M; Baiget, Montserrat M; Ayuso, Carmen C; Millan, Jose M JM; Aller, Elena E

Publication Date: 2011-10-17

Variant appearance in text: USH2A: L3982L

PubMed Link: 22004887

Variant Present in the following documents:

• Main text
• 1750-1172-6-65.pdf

View BVdb publication page

---

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics

McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL

Publication Date: 2010-07

Variant appearance in text: USH2: 11946G>A; Leu3982Leu

PubMed Link: 20507924

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

European Journal Of Human Genetics : Ejhg

Ebermann, Inga I; Koenekoop, Robert K RK; Lopez, Irma I; Bou-Khzam, Lara L; Pigeon, Renée R; Bolz, Hanno J HJ

Publication Date: 2009-01

Variant appearance in text: rs2820718

PubMed Link: 18665195

Variant Present in the following documents:

• Main text

View BVdb publication page

---