Publications by authors named "Emily Groopman"

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Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Emily E Groopman

Nat Commun· October 2025

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Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Emily E Groopman

Nat Commun· August 2025

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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Emily Groopman

Genet Med· April 2025

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Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.
Emily Groopman, Hila Milo Rasouly

Kidney Int Rep· March 2025

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Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.
Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Wilke, Raquel Fernandez

Mol Genet Metab· November 2024

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Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework.
Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Wilke, Raquel Fernandez

medRxiv· October 2024

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Developing a scoring system for gene curation prioritization in lysosomal diseases.
Matheus Vernet Machado Bressan Wilke, Jennifer Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell

Mol Genet Metab· October 2024

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A 15-Month-Old with Faltering Growth.
Jessica Mace, Rami Imam, Emily Groopman, Aadil Kakajiwala

NEJM Evid· July 2024

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Genome Sequencing for Diagnosing Rare Diseases.
Monica H Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Emily Groopman

N Engl J Med· June 2024

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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Jennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, Vimla Aggarwal, Simona Bianconi

Mol Genet Metab· May 2024

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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Emily Groopman

Am J Hum Genet· May 2024

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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Emily Groopman

HGG Adv· April 2024

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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Emily Groopman

Hum Genomics· April 2024

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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Emily Groopman

medRxiv· March 2024

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Inferring compound heterozygosity from large-scale exome sequencing data.
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Emily Groopman

Nat Genet· January 2024

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The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R Shea, Emily E Groopman

Sci Rep· December 2023

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Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Emily Groopman

medRxiv· October 2023

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Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Emily Groopman

medRxiv· September 2023

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Inferring compound heterozygosity from large-scale exome sequencing data.
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Emily Groopman

bioRxiv· August 2023

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Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H Duyzend, Emily E Groopman

Am J Hum Genet· August 2023

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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Sarah L Stenton, Melanie O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Emily Groopman

medRxiv· August 2023

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Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Emily Groopman

medRxiv· August 2023

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Beyond the exome: what's next in diagnostic testing for Mendelian conditions.
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H Duyzend, Emily E Groopman

ArXiv· January 2023

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DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
Cassandra R Harapas, Kim S Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Emily Groopman

Sci Immunol· September 2022

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Rare genetic causes of complex kidney and urological diseases.
Emily E Groopman, Gundula Povysil, David B Goldstein, Ali G Gharavi

Nat Rev Nephrol· November 2020

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