Publications:

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Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Brain Sciences

Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Zhong, Cuncong C; Rice, Mabel L ML; Raza, Muhammad Hashim MH

Publication Date: 2021-12-30

Variant appearance in text: rs11216131

PubMed Link: 35053791

Variant Present in the following documents:

• Main text
• brainsci-12-00047.pdf

View BVdb publication page

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Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Brain Sciences

Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Zhong, Cuncong C; Rice, Mabel L ML; Raza, Muhammad Hashim MH

Publication Date: 2021-12-30

Variant appearance in text: rs11216131

PubMed Link: 35053791

Variant Present in the following documents:

• Main text
• brainsci-12-00047.pdf

View BVdb publication page

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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: rs11216131

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: BUD13: R242I; rs11216131

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs11216131

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity.

Plos One

Garcia-Etxebarria, Koldo K; Bracho, María Alma MA; Galán, Juan Carlos JC; Pumarola, Tomàs T; Castilla, Jesús J; Ortiz de Lejarazu, Raúl R; Rodríguez-Dominguez, Mario M; Quintela, Inés I; Bonet, Núria N; Garcia-Garcerà, Marc M; Domínguez, Angela A; González-Candelas, Fernando F; Calafell, Francesc F; ,

Publication Date: 2015

Variant appearance in text: rs11216131

PubMed Link: 26379185

Variant Present in the following documents:

• Main text
• pone.0135983.pdf

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: BUD13: R242I; rs11216131

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

View BVdb publication page

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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: BUD13: R242I; rs11216131

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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