Emily G Farrow (Emily Farrow)

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 19

Top Topics

Juvenile Idiopathic Arthritis

Top Venues

Clinical chemistry

Nature communications

Brain : a journal of neurology

The Journal of experimental medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Carol J Saunders, Luca Brunelli, Michael J Deem, Emily G Farrow, Madhuri Hegde, Zornitza Stark
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now? Clinical chemistry 70 (4) (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Cristian Groza, Carl Schwendinger-Schreck, Warren A Cheung, Emily G Farrow, Isabelle Thiffault, Juniper A Lake, William B Rizzo, Gilad D Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen
Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nature communications 15 (1) (2024)
Craig Smail, Bing Ge, Marissa R Keever-Keigher, Carl Schwendinger-Schreck, Warren A Cheung, Jeffrey J Johnston, Cassandra Barrett, null null, Keith Feldman, Christiane Zweier, Emily G Farrow, Isabelle Thiffault, Elin Grundberg, Tomi Pastinen
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nature communications 15 (1) (2024)
Cristian Groza, Carl Schwendinger-Schreck, Warren A Cheung, Emily G Farrow, Isabelle Thiffault, Juniper A Lake, William B Rizzo, Gilad D Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen
Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nature communications 15 (1) (2024)
Carol J Saunders, Luca Brunelli, Michael J Deem, Emily G Farrow, Madhuri Hegde, Zornitza Stark
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now? Clinical chemistry 70 (4) (2024)
Victoria E Rael, Julian A Yano, John P Huizar, Leianna C Slayden, Madeleine A Weiss, Elizabeth A Turcotte, Jacob M Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily G Farrow, Janda L Jenkins, Mara L Becker, Stephen C Wong, Anne M Stevens, Catherine E Otten, Eric J Allenspach, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Robert A Saxton, null null, Bo Liu, Olivia Majer, Gregory M Barton
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. The Journal of experimental medicine 221 (8) (2024)
Carol J Saunders, Luca Brunelli, Michael J Deem, Emily G Farrow, Madhuri Hegde, Zornitza Stark
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now? Clinical chemistry 70 (4) (2024)
Victoria E Rael, Julian A Yano, John P Huizar, Leianna C Slayden, Madeleine A Weiss, Elizabeth A Turcotte, Jacob M Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily G Farrow, Janda L Jenkins, Mara L Becker, Stephen C Wong, Anne M Stevens, Catherine E Otten, Eric J Allenspach, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Robert A Saxton, null null, Bo Liu, Olivia Majer, Gregory M Barton
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. The Journal of experimental medicine 221 (8) (2024)
Victoria E Rael, Julian A Yano, John P Huizar, Leianna C Slayden, Madeleine A Weiss, Elizabeth A Turcotte, Jacob M Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily G Farrow, Janda L Jenkins, Mara L Becker, Stephen C Wong, Anne M Stevens, Catherine E Otten, Eric J Allenspach, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Robert A Saxton, null null, Bo Liu, Olivia Majer, Gregory M Barton
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. The Journal of experimental medicine 221 (8) (2024)
Cristian Groza, Carl Schwendinger-Schreck, Warren A Cheung, Emily G Farrow, Isabelle Thiffault, Juniper A Lake, William B Rizzo, Gilad D Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen
Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nature communications 15 (1) (2024)
Lisa A Lansdon, Maxime Cadieux-Dion, John C Herriges, Jeffrey Johnston, Byunggil Yoo, Joseph T Alaimo, Isabelle Thiffault, Neil Miller, Ana S A Cohen, Elena A Repnikova, Lei Zhang, Midhat S Farooqi, Emily G Farrow, Carol J Saunders
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies. Clinical chemistry 68 (9) (2022)
Emily G Farrow, Shankar Rengasamy Venugopalan, Isabelle Thiffault, Carol Saunders
Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care. Orthodontics & craniofacial research (2019)
Shankar Rengasamy Venugopalan, Emily G Farrow, Pedro A Sanchez-Lara, Stephen Yen, Michael Lypka, Shao Jiang, Veerasathpurush Allareddy
A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient. Orthodontics & craniofacial research (2019)
Josh E Petrikin, Julie A Cakici, Michelle M Clark, Laurel K Willig, Nathaly M Sweeney, Emily G Farrow, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Lee Zellmer, Suzanne M Herd, Anne M Holmes, Serge Batalov, Narayanan Veeraraghavan, Laurie D Smith, David P Dimmock, J Steven Leeder, Stephen F Kingsmore
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ genomic medicine 3 (2018)
Aaron C Noll, Neil A Miller, Laurie D Smith, Byunggil Yoo, Stephanie Fiedler, Linda D Cooley, Laurel K Willig, Josh E Petrikin, Julie A Cakici, John Lesko, Angela Newton, Kali Detherage, Isabelle Thiffault, Carol J Saunders, Emily G Farrow, Stephen F Kingsmore
Clinical detection of deletion structural variants in whole-genome sequences. NPJ genomic medicine 1 (2016)
Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret I Gibson, Sarah Soden, Neil Miller, Isabelle Thiffault, Carol Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily G Farrow
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype. BMC medical genetics 17 (1) (2016)