Publications by authors named "Sarah South"

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A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Marco L Leung, Raymond C Caylor, Olivia D'Annibale, Michelle McClure, TaraChandra Narumanchi, Sarah T South

Genet Med· June 2025

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Response to Spurdle et al.
Erin R Riggs, Erica F Andersen, Sibel Kantarci, Hutton Kearney, Ankita Patel, Sarah T South

Genet Med· August 2023

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Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Sarah T South

Genet Med· November 2021

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Response to Maya et al.
Erin Rooney Riggs, Erica F Andersen, Sibel Kantarci, Hutton Kearney, Ankita Patel, Sarah T South

Genet Med· July 2020

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Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
Reha M Toydemir, Emanuele Panza, Maria C Longhurst, Sarah T South, Alan F Rope

Mol Syndromol· July 2020

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Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
Sarah T South, Michelle McClure, Caroline Astbury, Michael T Bashford, Judith Benkendorf

Genet Med· June 2020

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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Sarah T South

Genet Med· February 2020

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Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.
John C Herriges, Sara Brown, Maria Longhurst, Jillian Ozmore, John B Moeschler, Sarah T South

Eur J Med Genet· January 2019

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Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
Rena J Vanzo, Hope Twede, Karen S Ho, Aparna Prasad, Megan M Martin, Sarah T South

Eur J Med Genet· January 2019

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Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.
James T Lu, Matthew Ferber, Jill Hagenkord, Elissa Levin, Sarah South

J Mol Diagn· January 2019

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Genomic analysis of follicular dendritic cell sarcoma by molecular inversion probe array reveals tumor suppressor-driven biology.
Erica F Andersen, Christian N Paxton, Dennis P O'Malley, Abner Louissaint, Jason L Hornick, Sarah T South

Mod Pathol· September 2017

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Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity.
Christian N Paxton, Dennis P O'Malley, Andrew M Bellizzi, Deema Alkapalan, Yuri Fedoriw, Sarah T South

Mod Pathol· September 2017

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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).
Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Sarah T South

Genet Med· August 2017

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Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.
Charles Hensel, Rena Vanzo, Megan Martin, Sean Dixon, Christophe Lambert, Sarah South

PLoS Curr· February 2017

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Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
Stephen R Braddock, Sarah T South, Joshua D Schiffman, Maria Longhurst, Leslie R Rowe

Am J Med Genet A· October 2016

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Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.
Gene S Fisch, Rena E Falk, John C Carey, Jaime Imitola, Maria Sederberg, Sarah South

Am J Med Genet A· September 2016

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Two Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1).
Delu Zhou, Christian N Paxton, Todd W Kelley, Zeinab Afify, Sarah T South

Am J Clin Pathol· August 2016

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Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations.
Abner Louissaint, Kristian T Schafernak, Julia T Geyer, Alexandra E Kovach, Mahmoud Ghandi, Sarah T South

Blood· August 2016

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Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy.
Wei Shen, Philippe Szankasi, Maria Sederberg, Jonathan Schumacher, Kimberly A Frizzell, Sarah T South

Br J Haematol· April 2016

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Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
Karen S Ho, Sarah T South, Amanda Lortz, Charles H Hensel, Mallory R Sdano

J Med Genet· April 2016

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Mosaic deletion of 20pter due to rescue by somatic recombination.
Megan M Martin, Rena J Vanzo, Mallory R Sdano, Adrianne L Baxter, Sarah T South

Am J Med Genet A· January 2016

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Turner Syndrome in Girls Presenting with Coarctation of the Aorta.
Aaron Eckhauser, Sarah T South, Lindsay Meyers, Steven B Bleyl, Lorenzo D Botto

J Pediatr· November 2015

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Wolf-Hirschhorn syndrome: A review and update.
Agatino Battaglia, John C Carey, Sarah T South

Am J Med Genet C Semin Med Genet· September 2015

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Observations of the genomic landscape beyond 1p19q deletions and EGFR amplification in glioma.
Christian N Paxton, Leslie R Rowe, Sarah T South

Mol Cytogenet· August 2015

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