Publications by authors named "Sebastian Fröhler"

6Publications

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.

Authors:
Xiulan Su Yufei Feng Sofia A Rahman Shuilong Wu Guoan Li Franz Rüschendorf Lei Zhao Hongwei Cui Junqing Liang Liang Fang Hao Hu Sebastian Froehler Yong Yu Giannino Patone Oliver Hummel Qinghua Chen Klemens Raile Friedrich C Luft Sylvia Bähring Khalid Hussain Wei Chen Jingjing Zhang Maolian Gong

J Genet Genomics 2020 Oct 28. Epub 2020 Oct 28.

Experimental and Clinical Research Center (ECRC), A Joint Cooperation Between the Charité Medical Faculty and the Max-Delbrueck-Center for Molecular Medicine in the Helmholtz Association (MDC), Lindenberger Weg.80, Berlin, 13125, Germany. Electronic address:

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October 2020

Plasma-based longitudinal mutation monitoring as a potential predictor of disease progression in subjects with adenocarcinoma in advanced non-small cell lung cancer.

Authors:
John Jiang Hans-Peter Adams Maria Lange Sandra Siemann Mirjam Feldkamp Sylvie McNamara Sebastian Froehler Stephanie J Yaung Lijing Yao Aarthi Balasubramanyam Nalin Tikoo Christine Ju H Jost Achenbach Rainer Krügel John F Palma

BMC Cancer 2020 Sep 15;20(1):885. Epub 2020 Sep 15.

Roche Sequencing Solutions, 4300 Hacienda Dr, Pleasanton & Potsdam, California, 94588, USA.

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September 2020

Concordance of Genomic Alterations by Next-Generation Sequencing in Tumor Tissue versus Cell-Free DNA in Stage I-IV Non-Small Cell Lung Cancer.

Authors:
John Jiang Hans-Peter Adams Lijing Yao Stephanie Yaung Preeti Lal Aarthi Balasubramanyam Frederike Fuhlbrück Nalin Tikoo Alexander F Lovejoy Sebastian Froehler Li Tai Fang H Jost Achenbach Ralph Floegel Rainer Krügel John F Palma

J Mol Diagn 2020 02 16;22(2):228-235. Epub 2019 Dec 16.

Roche Sequencing Solutions, Pleasanton, California. Electronic address:

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February 2020

HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion.

Authors:
Maolian Gong Yong Yu Lei Liang Dogus Vuralli Sebastian Froehler Peter Kuehnen Philipp Du Bois Jingjing Zhang Aidi Cao Yuantao Liu Khalid Hussain Jens Fielitz Shiqi Jia Wei Chen Klemens Raile

Mol Genet Genomic Med 2019 05 9;7(5):e602. Epub 2019 Apr 9.

Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty, Max-Delbrueck-Center for Molecular Medicine (MDC), Berlin, Germany.

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May 2019

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.

Authors:
Heba Gamal Farag Sebastian Froehler Konrad Oexle Ethiraj Ravindran Detlev Schindler Timo Staab Angela Huebner Nadine Kraemer Wei Chen Angela M Kaindl

Orphanet J Rare Dis 2013 Nov 14;8:178. Epub 2013 Nov 14.

Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, Berlin 13353, Germany.

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November 2013

A systematic evaluation of hybridization-based mouse exome capture system.

Authors:
Qingsong Gao Wei Sun Xintian You Sebastian Froehler Wei Chen

BMC Genomics 2013 Jul 21;14:492. Epub 2013 Jul 21.

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July 2013