Thomas J Nicholas

5PUBLICATIONS
36CO-AUTHORS
Genome structure and regulationCell and nuclear divisionMedical molecular engineering of nucleic acids and proteinsGene expression (incl. microarray and other genome-wide approaches)Gene mapping
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Publications (5)

|Apr 10, 2026
A family portrait of the genomic factors shaping tandem repeat mutagenesis.

Thomas A Sasani, Michael E Goldberg, Akshay K Avvaru

|Aug 16, 2024
A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigree.

David Porubsky, Harriet Dashnow, Thomas A Sasani

|Jan 03, 2024
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.

Jian Zhao, Nicola Longo, Robert G Lewis

|Nov 17, 2022
Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.

Thomas J Nicholas, Michael J Cormier, Aaron R Quinlan

|Feb 04, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell

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Frequent Collaborators

3 joint publications

Evan E Eichler

3 joint publications

Harriet Dashnow

2 joint publications

Kendra Hoekzema

2 joint publications

Paul N Valdmanis