Publications by authors named "Seth Berger"

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Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Georgia Pitsava, Megan Hawley, Light Auriga, Ivan de Dios, Arthur Ko, Seth I Berger

Genet Med· November 2025

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Seth Berger

Nature· November 2025

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Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis.
Seth I Berger, Anne O'Donnell-Luria

Ann Neurol· November 2025

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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, Sheraz Khan, Sri Varsha Kodiparthi, Seth I Berger

Am J Hum Genet· October 2025

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Incorporating Rare Disease Growth Monitoring Into Routine Practice to Improve Early Recognition and Diagnosis of Genetic Conditions.
Natasha Shur, Seth Berger, Andrew Dauber, Carrie Daymont

Pediatr Ann· September 2025

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Pathogenic variants in cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, Sheraz Khan, Sri Varsha Kodiparthi, Seth I Berger

medRxiv· August 2025

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh, Seth Berger

HGG Adv· July 2025

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Computer vision techniques for high-speed atomic force microscopy of DNA molecules.
Nicholas Driver, Andrey Mikheikin, Sean Koebley, Morteza Mostashari, Loren Picco, Seth I Berger

Nanotechnology· July 2025

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Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Mona M Makhamreh, Kavya Shivashankar, Stephanie M Rice, Sascha Wodoslawsky, Christina Grant, Seth I Berger

Orphanet J Rare Dis· July 2025

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Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Seth Berger

Ther Adv Rare Dis· July 2025

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Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Georgia Pitsava, Megan Hawley, Light Auriga, Ivan de Dios, Arthur Ko, Seth I Berger

medRxiv· June 2025

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Rare Disease Growth Monitoring: Improving Early Diagnosis.
Natasha Shur, Seth Berger, Andrew Dauber, Carrie Daymont

Pediatr Ann· April 2025

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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla, Seth Berger

Am J Hum Genet· March 2025

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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M Devaney, Jessica Noya, Seth Berger

Nat Commun· March 2025

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Improving Exome Sequencing for Neurodevelopmental Disorders.
Seth I Berger

JAMA Netw Open· March 2025

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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Shloka Negi, Sarah L Stenton, Seth I Berger, Paolo Canigiula, Brandy McNulty

Am J Hum Genet· February 2025

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Long-read sequencing resolves the clinically relevant locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.
Jean Monlong, Xiao Chen, Hayk Barseghyan, William J Rowell, Shloka Negi, Seth I Berger

medRxiv· February 2025

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Identification of variants from parent-proband duos via long-read sequencing.
Leandros Boukas, Emmanuèle C Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Seth I Berger

medRxiv· February 2025

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh, Seth Berger

medRxiv· December 2024

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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Seth Berger

ArXiv· December 2024

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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
Jessica X Chong, Seth I Berger, Samantha Baxter, Erica Smith, Changrui Xiao

Genet Med· October 2024

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Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.
Stephanie M Rice, Dante F Varotsis, Sascha Wodoslawsky, Elizabeth Critchlow, Ruby Liu, Seth I Berger

Prenat Diagn· October 2024

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Multiscale mapping of transcriptomic signatures for cardiotoxic drugs.
Jens Hansen, Yuguang Xiong, Mustafa M Siddiq, Priyanka Dhanan, Bin Hu, Seth I Berger

Nat Commun· September 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Seth I Berger

Nature· August 2024

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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Shloka Negi, Sarah L Stenton, Seth I Berger, Brandy McNulty, Ivo Violich

medRxiv· August 2024

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