Publications:

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)

Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL

Publication Date: 2022-03-26

Variant appearance in text: ATM: 1844T>C; Leu615Pro

PubMed Link: 35346031

Variant Present in the following documents:

• 10020_2022_464_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 1844T>C; Leu615Pro; rs786203783

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Clinical Genetics

Seo, Go Hun GH; Kim, Taeho T; Choi, In Hee IH; Park, Jung-Young JY; Lee, Jungsul J; Kim, Sehwan S; Won, Dhong-Gun DG; Oh, Arum A; Lee, Yena Y; Choi, Jeongmin J; Lee, Hajeong H; Kang, Hee Gyung HG; Cho, Hee Yeon HY; Cho, Min Hyun MH; Kim, Yoon Jeon YJ; Yoon, Young Hee YH; Eun, Baik-Lin BL; Desnick, Robert J RJ; Keum, Changwon C; Lee, Beom Hee BH

Publication Date: 2020-12

Variant appearance in text: ATM: 1844T>C; Leu615Pro

PubMed Link: 32901917

Variant Present in the following documents:

• CGE-98-562-s003.xlsx, sheet 2

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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Annals Of Neurology

Schon, Katherine K; van Os, Nienke J H NJH; Oscroft, Nicholas N; Baxendale, Helen H; Scoffings, Daniel D; Ray, Julian J; Suri, Mohnish M; Whitehouse, William P WP; Mehta, Puja R PR; Everett, Natasha N; Bottolo, Leonardo L; van de Warrenburg, Bart P BP; Byrd, Philip J PJ; Weemaes, Corry C; Willemsen, Michel A MA; Tischkowitz, Marc M; Taylor, A Malcolm AM; Hensiek, Anke E AE

Publication Date: 2019-02

Variant appearance in text: ATM: Leu615Pro

PubMed Link: 30549301

Variant Present in the following documents:

• ANA-85-170-s001.pdf

View BVdb publication page