Publications:

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Full function of exon junction complex factor, Rbm8a, is critical for interneuron development.

Translational Psychiatry

McSweeney, Colleen C; Dong, Fengping F; Chen, Miranda M; Vitale, Jessica J; Xu, Li L; Crowley, Nicole N; Luscher, Bernhard B; Zou, Donghua D; Mao, Yingwei Y

Publication Date: 2020-11-05

Variant appearance in text: PTEN: L100P

PubMed Link: 33154347

Variant Present in the following documents:

• 41398_2020_Article_1065.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: L100P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: PTEN: L100P

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Journal Of Medical Genetics

Reijnders, Margot R F MRF; Janowski, Robert R; Alvi, Mohsan M; Self, Jay E JE; van Essen, Ton J TJ; Vreeburg, Maaike M; Rouhl, Rob P W RPW; Stevens, Servi J C SJC; Stegmann, Alexander P A APA; Schieving, Jolanda J; Pfundt, Rolph R; van Dijk, Katinke K; Smeets, Eric E; Stumpel, Connie T R M CTRM; Bok, Levinus A LA; Cobben, Jan Maarten JM; Engelen, Marc M; Mansour, Sahar S; Whiteford, Margo M; Chandler, Kate E KE; Douzgou, Sofia S; Cooper, Nicola S NS; Tan, Ene-Choo EC; Foo, Roger R; Lai, Angeline H M AHM; Rankin, Julia J; Green, Andrew A; Lönnqvist, Tuula T; Isohanni, Pirjo P; Williams, Shelley S; Ruhoy, Ilene I; Carvalho, Karen S KS; Dowling, James J JJ; Lev, Dorit L DL; Sterbova, Katalin K; Lassuthova, Petra P; Neupauerová, Jana J; Waugh, Jeff L JL; Keros, Sotirios S; Clayton-Smith, Jill J; Smithson, Sarah F SF; Brunner, Han G HG; van Hoeckel, Ceciel C; Anderson, Mel M; Clowes, Virginia E VE; Siu, Victoria Mok VM; Ddd Study, The T; Selber, Paulo P; Leventer, Richard J RJ; Nellaker, Christoffer C; Niessing, Dierk D; Hunt, David D; Baralle, Diana D

Publication Date: 2018-02

Variant appearance in text: PTEN: 299T>C; Leu100Pro

PubMed Link: 29097605

Variant Present in the following documents:

• jmedgenet-2017-104946supp001.pdf

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INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.

Epilepsia Open

Katsarou, Anna-Maria AM; Moshé, Solomon L SL; Galanopoulou, Aristea S AS

Publication Date: 2017-09

Variant appearance in text: PTEN: L100P

PubMed Link: 29062978

Variant Present in the following documents:

• EPI4-2-284.pdf

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Functions of GSK-3 Signaling in Development of the Nervous System.

Frontiers In Molecular Neuroscience

Kim, Woo-Yang WY; Snider, William D WD

Publication Date: 2011

Variant appearance in text: PTEN: L100P

PubMed Link: 22125510

Variant Present in the following documents:

• Main text

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GSK-3: Functional Insights from Cell Biology and Animal Models.

Frontiers In Molecular Neuroscience

Kaidanovich-Beilin, Oksana O; Woodgett, James Robert JR

Publication Date: 2011

Variant appearance in text: PTEN: L100p

PubMed Link: 22110425

Variant Present in the following documents:

• Main text
• fnmol-04-00040.pdf

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