Genetic Mosaics and the Germ Line Lineage

by Mark E. Samuels, Jan M. Friedman
Published 2015-04-01

Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences

by Readman Chiu, Indhu-Shree Rajan-Babu, Jan M. Friedman, Inanc Birol
Published 2021-08-01

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

by Harleen Chohan, Mitra Esfandiarei, Darian Arman, Catherine D Van Raamsdonk, Cornelis van Breemen, Jan M Friedman, Kimberly A Jett
Published 2018-01-01

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1

by Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner, Jan M. Friedman
Published 2018-04-01

The sensitivity of massively parallel sequencing for detecting candidate infectious agents associated with human tissue.

by Richard A Moore, René L Warren, J Douglas Freeman, Julia A Gustavsen, Caroline Chénard, Jan M Friedman, Curtis A Suttle, Yongjun Zhao, Robert A Holt
Published 2011-01-01

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

by Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman
Published 2021-08-01

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

by Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman
Published 2021-09-01

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

by Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath
Published 2019-10-01

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

by Farah R. Zahir, Jill C. Mwenifumbo, Hye-Jung E. Chun, Emilia L. Lim, Clara D. M. Van Karnebeek, Madeline Couse, Karen L. Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F. Boerkoel, Sylvie L. Langlois, Barbara M. McGillivray, Steven J. M. Jones, Jan M. Friedman, Marco A. Marra
Published 2017-05-01