Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: POLE: 6271C>T; Pro2091Ser

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: POLE: 6271C>T; P2091S; rs572252265

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.

European Journal Of Human Genetics : Ejhg

Bharadwaj, Thashi T; Schrauwen, Isabelle I; Rehman, Sakina S; Liaqat, Khurram K; Acharya, Anushree A; Giese, Arnaud P J APJ; Nouel-Saied, Liz M LM; Nasir, Abdul A; Everard, Jenna L JL; Pollock, Lana M LM; Zhu, Shaoyuan S; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Ali, Raja Hussain RH; Ullah, Asmat A; Wali, Abdul A; Ali, Ghazanfar G; Santos-Cortez, Regie Lyn P RLP; Ahmed, Zubair M ZM; McDermott, Brian M BM; Ansar, Muhammad M; Riazuddin, Saima S; Ahmad, Wasim W; Leal, Suzanne M SM

Publication Date: 2021-06-16

Variant appearance in text: POLE: P2091S

PubMed Link: 34135477

Variant Present in the following documents:

• 41431_2021_913_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.

European Journal Of Human Genetics : Ejhg

Bharadwaj, Thashi T; Schrauwen, Isabelle I; Rehman, Sakina S; Liaqat, Khurram K; Acharya, Anushree A; Giese, Arnaud P J APJ; Nouel-Saied, Liz M LM; Nasir, Abdul A; Everard, Jenna L JL; Pollock, Lana M LM; Zhu, Shaoyuan S; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Ali, Raja Hussain RH; Ullah, Asmat A; Wali, Abdul A; Ali, Ghazanfar G; Santos-Cortez, Regie Lyn P RLP; Ahmed, Zubair M ZM; McDermott, Brian M BM; Ansar, Muhammad M; Riazuddin, Saima S; Ahmad, Wasim W; Leal, Suzanne M SM

Publication Date: 2022-01

Variant appearance in text: POLE: P2091S

PubMed Link: 34135477

Variant Present in the following documents:

• 41431_2021_913_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.

Frontiers In Genetics

Fareed, Mohd M; Sharma, Varun V; Singh, Inderpal I; Rehman, Sayeed Ur SU; Singh, Gurdarshan G; Afzal, Mohammad M

Publication Date: 2021

Variant appearance in text: POLE: 6271C>T; Pro2091Ser

PubMed Link: 34113375

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.

Genome Research

Fujimoto, Akihiro A; Fujita, Masashi M; Hasegawa, Takanori T; Wong, Jing Hao JH; Maejima, Kazuhiro K; Oku-Sasaki, Aya A; Nakano, Kaoru K; Shiraishi, Yuichi Y; Miyano, Satoru S; Yamamoto, Go G; Akagi, Kiwamu K; Imoto, Seiya S; Nakagawa, Hidewaki H

Publication Date: 2020-03-24

Variant appearance in text: POLE: P2091S

PubMed Link: 32209592

Variant Present in the following documents:

• supp_gr.255026.119_Supplemental_Tables.xlsx, sheet 12

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: POLE: P2091S

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: POLE: 6271C>T; Pro2091Ser; rs572252265

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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