Publications:

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2591594

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2591594

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.

Molecular Psychiatry

Legge, S E SE; Hamshere, M L ML; Ripke, S S; Pardinas, A F AF; Goldstein, J I JI; Rees, E E; Richards, A L AL; Leonenko, G G; Jorskog, L F LF; , ; Chambert, K D KD; Collier, D A DA; Genovese, G G; Giegling, I I; Holmans, P P; Jonasdottir, A A; Kirov, G G; McCarroll, S A SA; MacCabe, J H JH; Mantripragada, K K; Moran, J L JL; Neale, B M BM; Stefansson, H H; Rujescu, D D; Daly, M J MJ; Sullivan, P F PF; Owen, M J MJ; O'Donovan, M C MC; Walters, J T R JTR

Publication Date: 2017-10

Variant appearance in text: rs2591594

PubMed Link: 27400856

Variant Present in the following documents:

• Main text
• mp201697a.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs2591594

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page