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

Victor Murcia Pienkowski; Marzena Kucharczyk; Marlena Młynek; Krzysztof Szczałuba; Małgorzata Rydzanicz; Barbara Poszewiecka; Agata Skórka; Maciej Sykulski; Anna Biernacka; Agnieszka Anna Koppolu; Renata Posmyk; Anna Walczak; Joanna Kosińska; Paweł Krajewski; Jennifer Castaneda; Ewa Obersztyn; Elżbieta Jurkiewicz; Robert Śmigiel; Anna Gambin; Krystyna Chrzanowska; Małgorzata Krajewska-Walasek; Rafał Płoski

doi:10.1136/jmedgenet-2018-105527

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Chromosomal rearrangements

Original article

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

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Victor Murcia Pienkowski Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Marzena Kucharczyk Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Marlena Młynek Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Krzysztof Szczałuba Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Małgorzata Rydzanicz Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Barbara Poszewiecka Faculty of Mathematics, Informatics and Mechanics, Institute of Informatics, University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Agata Skórka Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Maciej Sykulski Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland genXone, Poznan, Poland PubMed articles Google scholar articles
Anna Biernacka Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Agnieszka Anna Koppolu Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Renata Posmyk Department of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland Department of Perinatology, Medical University of Bialystok, Bialystok, Poland PubMed articles Google scholar articles
Anna Walczak Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Joanna Kosińska Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Paweł Krajewski Department of Forensic Medicine, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Jennifer Castaneda Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland PubMed articles Google scholar articles
Ewa Obersztyn Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland PubMed articles Google scholar articles
Elżbieta Jurkiewicz Department of Diagnostic Imaging, The Children’s Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Robert Śmigiel Department of Pediatrics and Rare Disorder, Wroclaw Medical University, Wroclaw, Poland PubMed articles Google scholar articles
Anna Gambin Faculty of Mathematics, Informatics and Mechanics, Institute of Informatics, University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Krystyna Chrzanowska Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Małgorzata Krajewska-Walasek Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Rafał Płoski Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles

Correspondence to Professor Rafał Płoski, Department of Medical Genetics, Medical University of Warsaw, Warsaw 02-106, Poland; rploski{at}wp.pl

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Citation

Murcia Pienkowski V, Kucharczyk M, Młynek M, et al

Journal of Medical Genetics 2019;56:104-112.

Publication history

Received June 10, 2018
Revised September 21, 2018
Accepted September 22, 2018
First published October 23, 2018.

Online issue publication

January 22, 2019

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