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: rs12308381

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: rs12308381

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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Genome-wide genetic and epigenetic analyses of pancreatic acinar cell carcinomas reveal aberrations in genome stability.

Nature Communications

Jäkel, Cornelia C; Bergmann, Frank F; Toth, Reka R; Assenov, Yassen Y; van der Duin, Daniel D; Strobel, Oliver O; Hank, Thomas T; Klöppel, Günter G; Dorrell, Craig C; Grompe, Markus M; Moss, Joshua J; Dor, Yuval Y; Schirmacher, Peter P; Plass, Christoph C; Popanda, Odilia O; Schmezer, Peter P

Publication Date: 2017-11-06

Variant appearance in text: rs12308381

PubMed Link: 29109526

Variant Present in the following documents:

• 41467_2017_1118_MOESM4_ESM.xlsx, sheet 1

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Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.

Journal Of Alzheimer'S Disease : Jad

Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL

Publication Date: 2015

Variant appearance in text: rs12308381

PubMed Link: 25812849

Variant Present in the following documents:

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