Publications by authors named "Laura Conlin"

75Publications

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.

Genet Med 2020 Oct 20. Epub 2020 Oct 20.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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October 2020

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Arch Pathol Lab Med 2020 Jul 24. Epub 2020 Jul 24.

From the Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota (Drs Larson, Van Dyke, Kearney, Ketterling, and Peterson, and Mr Yuhas); the Department of Molecular Diagnostics, Legacy Laboratory Services, Legacy Health, Portland, Oregon (Dr Akkari); the Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, California (Dr Raca); the Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington (Dr Gardner); the Department of Pathology, Duke University School of Medicine, Durham, North Carolina (Dr Rehder); the Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill (Dr Kaiser-Rogers); College of American Pathologists, Northfield, Illinois (Ms Eagle); School of Health Professionals (Dr Gu) and the Department of Hematopathology (Dr Tang), The University of Texas MD Anderson Cancer Center, Houston, Texas; the Department of Pathology, University of Utah, Salt Lake City (Dr Toydemir); the Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Dr Conlin); and the Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis (Dr Dolan).

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July 2020

Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome.

Cancer Genet 2020 07 14;245:42-48. Epub 2020 Jun 14.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Abramson Research Center, Room 716D, 3615 Civic Center Blvd., Philadelphia, PA 19104, United States; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States. Electronic address:

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July 2020

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.

Genome Med 2020 01 30;12(1):14. Epub 2020 Jan 30.

Division of Genomic Diagnostics, Department of Pathology and Laboaratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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January 2020

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Hum Mutat 2020 05 6;41(5):973-982. Epub 2020 Feb 6.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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May 2020

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

JAMA Netw Open 2019 04 5;2(4):e192129. Epub 2019 Apr 5.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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April 2019

Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.

Am J Med Genet A 2018 12 10;176(12):2720-2732. Epub 2018 Oct 10.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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December 2018