Concepedia

Agnieszka Koppolu

AK

Statistics

Publications

9

Citations

221

H-Index

9

Active since

2018

Affiliations

Medical University of Warsaw(Current)

Postgraduate School of Molecular Medicine

Mossakowski Medical Research Institute, Polish Academy of Sciences

Children's Memorial Health Institute

Institute of Biochemistry and Biophysics, Polish Academy of Sciences

Agnieszka Koppolu is an author at Medical University of Warsaw specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2018–2021

9

Publications

9

Evidence for <i>HNRNPH1</i> being another gene for Bain type syndromic mental retardation

Jacek Pilch, Agnieszka Koppolu, Anna Walczak et al. · Clinical Genetics · 2018 · 48 citations

, , +17

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Małgorzata Rydzanicz, Małgorzata Wachowska, Erik C. Cook et al. · European Journal of Human Genetics · 2018 · 43 citations

, , +10

<i>FARSA</i> mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by <i>FARSB</i> defects

Katarzyna Krenke, Krzysztof Szczałuba, Teresa Bielecka et al. · Clinical Genetics · 2019 · 42 citations

, , +13

Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes

Agnieszka Koppolu, Radosław Maksym, Wiktor Paskal et al. · Cells · 2021 · 25 citations · Full text

, , +13

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to <i>EFNA5</i>, <i>BAHD1</i> and <i>PPP2R5E</i> as novel candidates for genes causing human Mendelian disorders

Victor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek et al. · Journal of Medical Genetics · 2018 · 18 citations · Full text

, , +16

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