Publications:

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: rs143877693

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CNTNAP2: 1220A>G; Asn407Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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CNTNAP2 Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?

Journal Of Experimental Neuroscience

Canali, Giorgia G; Goutebroze, Laurence L

Publication Date: 2018

Variant appearance in text: Caspr2: N407S

PubMed Link: 30450007

Variant Present in the following documents:

• Main text
• 10.1177_1179069518809666.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CNTNAP2: 1220A>G; Asn407Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2).

The Journal Of Biological Chemistry

Lu, Zhuoyang Z; Reddy, M V V V Sekhar MV; Liu, Jianfang J; Kalichava, Ana A; Liu, Jiankang J; Zhang, Lei L; Chen, Fang F; Wang, Yun Y; Holthauzen, Luis Marcelo F LM; White, Mark A MA; Seshadrinathan, Suchithra S; Zhong, Xiaoying X; Ren, Gang G; Rudenko, Gabby G

Publication Date: 2016-11-11

Variant appearance in text: CNTNAP2: N407S

PubMed Link: 27621318

Variant Present in the following documents:

• Main text

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: rs143877693

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CNTNAP2: N407S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.

Neurobiology Of Disease

Han, Tae-Un TU; Park, John J; Domingues, Carlos F CF; Moretti-Ferreira, Danilo D; Paris, Emily E; Sainz, Eduardo E; Gutierrez, Joanne J; Drayna, Dennis D

Publication Date: 2014-09

Variant appearance in text: CNTNAP2: Asn407Ser

PubMed Link: 24807205

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shining a light on CNTNAP2: complex functions to complex disorders.

European Journal Of Human Genetics : Ejhg

Rodenas-Cuadrado, Pedro P; Ho, Joses J; Vernes, Sonja C SC

Publication Date: 2014-02

Variant appearance in text: CNTNAP2: N407S

PubMed Link: 23714751

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.

Human Molecular Genetics

Falivelli, Giulia G; De Jaco, Antonella A; Favaloro, Flores Lietta FL; Kim, Hyuck H; Wilson, Jennifer J; Dubi, Noga N; Ellisman, Mark H MH; Abrahams, Brett S BS; Taylor, Palmer P; Comoletti, Davide D

Publication Date: 2012-11-01

Variant appearance in text: CNTNAP2: N407S

PubMed Link: 22872700

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

American Journal Of Human Genetics

Bakkaloglu, Betul B; O'Roak, Brian J BJ; Louvi, Angeliki A; Gupta, Abha R AR; Abelson, Jesse F JF; Morgan, Thomas M TM; Chawarska, Katarzyna K; Klin, Ami A; Ercan-Sencicek, A Gulhan AG; Stillman, Althea A AA; Tanriover, Gamze G; Abrahams, Brett S BS; Duvall, Jackie A JA; Robbins, Elissa M EM; Geschwind, Daniel H DH; Biederer, Thomas T; Gunel, Murat M; Lifton, Richard P RP; State, Matthew W MW

Publication Date: 2008-01

Variant appearance in text: CNTNAP2: N407S

PubMed Link: 18179895

Variant Present in the following documents:

• Main text

View BVdb publication page

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