Paranchai Boonsawat

Paranchai Boonsawat

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Paranchai Boonsawat

Paranchai Boonsawat

Publications by authors named "Paranchai Boonsawat"

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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Authors:
Paranchai Boonsawat Pascal Joset Katharina Steindl Beatrice Oneda Laura Gogoll Silvia Azzarello-Burri Frenny Sheth Chaitanya Datar Ishwar C Verma Ratna Dua Puri Marcella Zollino Ruxandra Bachmann-Gagescu Dunja Niedrist Michael Papik Joana Figueiro-Silva Rahim Masood Markus Zweier Dennis Kraemer Sharyn Lincoln Lance Rodan Sandrine Passemard Séverine Drunat Alain Verloes Anselm H C Horn Heinrich Sticht Robert Steinfeld Barbara Plecko Beatrice Latal Oskar Jenni Reza Asadollahi Anita Rauch

Genet Med 2019 09 7;21(9):2043-2058. Epub 2019 Mar 7.

Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.

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http://www.nature.com/articles/s41436-019-0464-7
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http://dx.doi.org/10.1038/s41436-019-0464-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752480PMC
September 2019

Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.

Authors:
Dennis Kraemer Silvia Azzarello-Burri Katharina Steindl Paranchai Boonsawat Markus Zweier Konstantin J Dedes Pascal Joset Daniel Fink Anita Rauch

Swiss Med Wkly 2019 Aug 18;149:w20092. Epub 2019 Aug 18.

Institute of Medical Genetics (IMG), University of Zurich, Schlieren-Zurich, Switzerland.

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http://dx.doi.org/10.4414/smw.2019.20092DOI Listing
August 2019

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Authors:
Anne Gregor Lynette G Sadleir Reza Asadollahi Silvia Azzarello-Burri Agatino Battaglia Lilian Bomme Ousager Paranchai Boonsawat Ange-Line Bruel Rebecca Buchert Eduardo Calpena Benjamin Cogné Bruno Dallapiccola Felix Distelmaier Frances Elmslie Laurence Faivre Tobias B Haack Victoria Harrison Alex Henderson David Hunt Bertrand Isidor Pascal Joset Satoko Kumada Augusta M A Lachmeijer Melissa Lees Sally Ann Lynch Francisco Martinez Naomichi Matsumoto Carey McDougall Heather C Mefford Noriko Miyake Candace T Myers Sébastien Moutton Addie Nesbitt Antonio Novelli Carmen Orellana Anita Rauch Monica Rosello Ken Saida Avni B Santani Ajoy Sarkar Ingrid E Scheffer Marwan Shinawi Katharina Steindl Joseph D Symonds Elaine H Zackai André Reis Heinrich Sticht Christiane Zweier

Am J Hum Genet 2018 08 26;103(2):305-316. Epub 2018 Jul 26.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080769PMC
August 2018

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Authors:
Reza Asadollahi Justin E Strauss Martin Zenker Oliver Beuing Simon Edvardson Orly Elpeleg Tim M Strom Pascal Joset Dunja Niedrist Christine Otte Beatrice Oneda Paranchai Boonsawat Silvia Azzarello-Burri Deborah Bartholdi Michael Papik Markus Zweier Cordula Haas Arif B Ekici Alessandra Baumer Eugen Boltshauser Katharina Steindl Michael Nothnagel Albert Schinzel Esther T Stoeckli Anita Rauch

Eur J Hum Genet 2018 02 10;26(2):197-209. Epub 2018 Jan 10.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

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http://dx.doi.org/10.1038/s41431-017-0019-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839020PMC
February 2018