Publications:

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The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics

Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE

Publication Date: 2023-05-01

Variant appearance in text: USH2A: 15017C>T; Thr5006Met

PubMed Link: 37127645

Variant Present in the following documents:

• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 15017C>T; Thr5006Met

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: USH2A: 15017C>T; Thr5006Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases

Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G

Publication Date: 2022-05-12

Variant appearance in text: USH2A: 15017C>T

PubMed Link: 35551639

Variant Present in the following documents:

• 13023_2022_2340_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: USH2A: 15017C>T; Thr5006Met; rs757676723

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: USH2A: 15017C>T; Thr5006Met

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Clinical Genetics

Wafa, Talah T TT; Faridi, Rabia R; King, Kelly A KA; Zalewski, Christopher C; Yousaf, Rizwan R; Schultz, Julie M JM; Morell, Robert J RJ; Muskett, Julie J; Turriff, Amy A; Tsilou, Ekaterini E; Griffith, Andrew J AJ; Friedman, Thomas B TB; Zein, Wadih M WM; Brewer, Carmen C CC

Publication Date: 2021-02

Variant appearance in text: USH2: 15017C>T

PubMed Link: 33089500

Variant Present in the following documents:

• Main text
• CGE-99-226.pdf

View BVdb publication page

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: T5006M

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: USH2A: 15017C>T; Thr5006Met

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Intraobserver Repeatability and Interobserver Reproducibility of Ellipsoid Zone Measurements in Retinitis Pigmentosa.

Translational Vision Science & Technology

Strampe, Margaret R MR; Huckenpahler, Alison L AL; Higgins, Brian P BP; Tarima, Sergey S; Visotcky, Alexis A; Stepien, Kimberly E KE; Kay, Christine N CN; Carroll, Joseph J

Publication Date: 2018-05

Variant appearance in text: USH2A: T5006M

PubMed Link: 29881650

Variant Present in the following documents:

• Main text
• i2164-2591-7-3-13.pdf

View BVdb publication page

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Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Molecular Genetics & Genomic Medicine

Neuhaus, Christine C; Eisenberger, Tobias T; Decker, Christian C; Nagl, Sandra S; Blank, Cornelia C; Pfister, Markus M; Kennerknecht, Ingo I; Müller-Hofstede, Cornelie C; Charbel Issa, Peter P; Heller, Raoul R; Beck, Bodo B; Rüther, Klaus K; Mitter, Diana D; Rohrschneider, Klaus K; Steinhauer, Ute U; Korbmacher, Heike M HM; Huhle, Dagmar D; Elsayed, Solaf M SM; Taha, Hesham M HM; Baig, Shahid M SM; Stöhr, Heidi H; Preising, Markus M; Markus, Susanne S; Moeller, Fabian F; Lorenz, Birgit B; Nagel-Wolfrum, Kerstin K; Khan, Arif O AO; Bolz, Hanno J HJ

Publication Date: 2017-09

Variant appearance in text: USH2: 15017C>T

PubMed Link: 28944237

Variant Present in the following documents:

• Main text
• MGG3-5-531.pdf

View BVdb publication page

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Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.

Plos One

Abdi, Samia S; Bahloul, Amel A; Behlouli, Asma A; Hardelin, Jean-Pierre JP; Makrelouf, Mohamed M; Boudjelida, Kamel K; Louha, Malek M; Cheknene, Ahmed A; Belouni, Rachid R; Rous, Yahia Y; Merad, Zahida Z; Selmane, Djamel D; Hasbelaoui, Mokhtar M; Bonnet, Crystel C; Zenati, Akila A; Petit, Christine C

Publication Date: 2016

Variant appearance in text: USH2A: 15017C>T

PubMed Link: 27583663

Variant Present in the following documents:

• Main text
• pone.0161893.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: USH2A: T5006M

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science

Sun, Lynn W LW; Johnson, Ryan D RD; Langlo, Christopher S CS; Cooper, Robert F RF; Razeen, Moataz M MM; Russillo, Madia C MC; Dubra, Alfredo A; Connor, Thomas B TB; Han, Dennis P DP; Pennesi, Mark E ME; Kay, Christine N CN; Weinberg, David V DV; Stepien, Kimberly E KE; Carroll, Joseph J

Publication Date: 2016-05-01

Variant appearance in text: USH2A: 15017C>T; Thr5006Met

PubMed Link: 27145477

Variant Present in the following documents:

• i1552-5783-57-6-2428.pdf
• i1552-5783-57-6-2428-s01.pdf

View BVdb publication page

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