Thomas J Nicholas

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 11

Top Topics

Pluripotent Stem Cells

Top Venues

American journal of medical genetics. Part A

bioRxiv : the preprint server for biology

BMC bioinformatics

Molecular genetics & genomic medicine

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

Publications

David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Michelle D Noyes, Zev N Kronenberg, Tom Mokveld, Nidhi Koundinya, Cillian Nolan, Cody J Steely, Andrea Guarracino, Egor Dolzhenko, William T Harvey, William J Rowell, Kirill Grigorev, Thomas J Nicholas, Keisuke K Oshima, Jiadong Lin, Peter Ebert, W Scott Watkins, Tiffany Y Leung, Vincent C T Hanlon, Sean McGee, Brent S Pedersen, Michael E Goldberg, Hannah C Happ, Hyeonsoo Jeong, Katherine M Munson, Kendra Hoekzema, Daniel D Chan, Yanni Wang, Jordan Knuth, Gage H Garcia, Cairbre Fanslow, Christine Lambert, Charles Lee, Joshua D Smith, Shawn E Levy, Christopher E Mason, Erik P Garrison, Peter M Lansdorp, Deborah W Neklason, Lynn B Jorde, Aaron R Quinlan, Michael A Eberle, Evan E Eichler
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree. bioRxiv : the preprint server for biology (2024)
Jian Zhao, Nicola Longo, Robert G Lewis, Thomas J Nicholas, Steven E Boyden, Ashley Andrews, Austin Larson, null null, Pinar Bayrak-Toydemir, Lorenzo D Botto, Rong Mao
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. American journal of medical genetics. Part A 194 (5) (2024)
Jian Zhao, Nicola Longo, Robert G Lewis, Thomas J Nicholas, Steven E Boyden, Ashley Andrews, Austin Larson, null null, Pinar Bayrak-Toydemir, Lorenzo D Botto, Rong Mao
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. American journal of medical genetics. Part A 194 (5) (2024)
Jian Zhao, Nicola Longo, Robert G Lewis, Thomas J Nicholas, Steven E Boyden, Ashley Andrews, Austin Larson, null null, Pinar Bayrak-Toydemir, Lorenzo D Botto, Rong Mao
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. American journal of medical genetics. Part A 194 (5) (2024)
Jian Zhao, Nicola Longo, Robert G Lewis, Thomas J Nicholas, Steven E Boyden, Ashley Andrews, Austin Larson, null null, Pinar Bayrak-Toydemir, Lorenzo D Botto, Rong Mao
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. American journal of medical genetics. Part A (2024)
David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Michelle D Noyes, Zev N Kronenberg, Tom Mokveld, Nidhi Koundinya, Cillian Nolan, Cody J Steely, Andrea Guarracino, Egor Dolzhenko, William T Harvey, William J Rowell, Kirill Grigorev, Thomas J Nicholas, Keisuke K Oshima, Jiadong Lin, Peter Ebert, W Scott Watkins, Tiffany Y Leung, Vincent C T Hanlon, Sean McGee, Brent S Pedersen, Michael E Goldberg, Hannah C Happ, Hyeonsoo Jeong, Katherine M Munson, Kendra Hoekzema, Daniel D Chan, Yanni Wang, Jordan Knuth, Gage H Garcia, Cairbre Fanslow, Christine Lambert, Charles Lee, Joshua D Smith, Shawn E Levy, Christopher E Mason, Erik P Garrison, Peter M Lansdorp, Deborah W Neklason, Lynn B Jorde, Aaron R Quinlan, Michael A Eberle, Evan E Eichler
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree. bioRxiv : the preprint server for biology (2024)
Jian Zhao, Nicola Longo, Robert G Lewis, Thomas J Nicholas, Steven E Boyden, Ashley Andrews, Austin Larson, null null, Pinar Bayrak-Toydemir, Lorenzo D Botto, Rong Mao
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. American journal of medical genetics. Part A 194 (5) (2024)
David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Michelle D Noyes, Zev N Kronenberg, Tom Mokveld, Nidhi Koundinya, Cillian Nolan, Cody J Steely, Andrea Guarracino, Egor Dolzhenko, William T Harvey, William J Rowell, Kirill Grigorev, Thomas J Nicholas, Keisuke K Oshima, Jiadong Lin, Peter Ebert, W Scott Watkins, Tiffany Y Leung, Vincent C T Hanlon, Sean McGee, Brent S Pedersen, Michael E Goldberg, Hannah C Happ, Hyeonsoo Jeong, Katherine M Munson, Kendra Hoekzema, Daniel D Chan, Yanni Wang, Jordan Knuth, Gage H Garcia, Cairbre Fanslow, Christine Lambert, Charles Lee, Joshua D Smith, Shawn E Levy, Christopher E Mason, Erik P Garrison, Peter M Lansdorp, Deborah W Neklason, Lynn B Jorde, Aaron R Quinlan, Michael A Eberle, Evan E Eichler
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree. bioRxiv : the preprint server for biology (2024)
David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Michelle D Noyes, Zev N Kronenberg, Tom Mokveld, Nidhi Koundinya, Cillian Nolan, Cody J Steely, Andrea Guarracino, Egor Dolzhenko, William T Harvey, William J Rowell, Kirill Grigorev, Thomas J Nicholas, Keisuke K Oshima, Jiadong Lin, Peter Ebert, W Scott Watkins, Tiffany Y Leung, Vincent C T Hanlon, Sean McGee, Brent S Pedersen, Michael E Goldberg, Hannah C Happ, Hyeonsoo Jeong, Katherine M Munson, Kendra Hoekzema, Daniel D Chan, Yanni Wang, Jordan Knuth, Gage H Garcia, Cairbre Fanslow, Christine Lambert, Charles Lee, Joshua D Smith, Shawn E Levy, Christopher E Mason, Erik P Garrison, Peter M Lansdorp, Deborah W Neklason, Lynn B Jorde, Aaron R Quinlan, Michael A Eberle, Evan E Eichler
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree. bioRxiv : the preprint server for biology (2024)
Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak-Toydemir, Christine E Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J Hernandez, Michael J Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua Leith Bonkowsky, Martin Tristani-Firouzi, Mark Yandell, Gabor Marth, Aaron R Quinlan, Luca Brunelli, Reha M Toydemir, Brian J Shayota, John C Carey, Steven E Boyden, Sabrina Malone Jenkins
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. Molecular genetics & genomic medicine 10 (4) (2022)
Thomas J Nicholas, Michael J Cormier, Aaron R Quinlan
Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate. BMC bioinformatics 23 (1) (2022)