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Laura K Conlin, PhD

Laura K Conlin, PhD

faculty photo
Assistant Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine

Contact information
1007B Abramson Research Building
The Children's Hospital of Philadelphia
34th and Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-7885
Education:
BS (Chemistry with a minor in Biological Sciences)
Carnegie Mellon University, 2000.
PhD (Genetics and Gene Regulation)
University of Pennsylvania, 2007.
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Selected Publications

Jarvik Gail P, Amendola Laura M, Berg Jonathan S, Brothers Kyle, Clayton Ellen W, Chung Wendy, Evans Barbara J, Evans James P, Fullerton Stephanie M, Gallego Carlos J, Garrison Nanibaa' A, Gray Stacy W, Holm Ingrid A, Kullo Iftikhar J, Lehmann Lisa Soleymani, McCarty Cathy, Prows Cynthia A, Rehm Heidi L, Sharp Richard R, Salama Joseph, Sanderson Saskia, Van Driest Sara L, Williams Marc S, Wolf Susan M, Wolf Wendy A, Burke Wylie: Return of genomic results to research participants: the floor, the ceiling, and the choices in between. American journal of human genetics 94(6): 818-26, Jun 2014 Notes: listed as a collaborator, under CSER Act-ROR Working Group.

Guilherme Roberta Santos, Soares Karina Cunha, Simioni Milena, Vieira Tarsis Paiva, Gil-da-Silva-Lopes Vera Lúcia, Kim Chong Ae, Brunoni Décio, Spinner Nancy Bettina, Conlin Laura Kathleen, Christofolini Denise Maria, Kulikowski Leslie Domenici, Steiner Carlos Eduardo, Melaragno Maria Isabel: Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. American journal of medical genetics. Part A Apr 2014.

Salas-Labadía Consuelo, Cervantes-Barragán David E, Cruz-Alcívar Roberto, Daber Robert D, Conlin Laura K, Leonard Laura D, Spinner Nancy B, Durán-McKinster Carola, Dávila-Ortíz de Montellano David J, Del Castillo-Ruiz Victoria, Pérez-Vera Patricia: Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. American journal of medical genetics. Part A Mar 2014.

Spinner NB, Conlin LK: Chromosome Disorders Harrison’s Principles and Practice of Internal Medicine, 19th Edition 2014.

Li M, Brunton J, Jayaraman V, Haley D, Dugan N, Dulik M, Abrudan J, Rajagopalan R, Sasson A, DeChene E, Sarmady M, Conlin L, White P, Spinner N, Krantz I, Vetter V: "Utility and Limitations of Exome Sequencing as a Genetic Diagnostic Tool for Pediatric Disorders: Sudden Cardiac Arrest/Sudden Cardiac Death as a Model" American College of Medical Genetics and Genomics 2014, Nashville, TN. 2014.

Dickinson A, Abrudan J, Brunton J, Jayaraman V, Sasson A, Sarmady M, Dulik M, DeChene E, Noon S, Wilkens A, Kaur M, Conlin L, Tilton R, Spinner N, White P, Krantz I: "Application of Exome Sequencing as a Diagnostic Tool for Bilateral Sensorineural Hearing Loss" American College of Medical Genetics and Genomics 2014, Nashville, TN. 2014.

Tilton R, Rajagopalan R, Kaur M, Dickinson A, Tsai E, Guo Y, Liang J, Zhong J, Conlin L, Hakonarson H, Krantz I: "Using Whole Exome Sequencing to Identify the Genetic Causes of the Craniocerebellocardiac (3C) Syndrome" American College of Medical Genetics and Genomics 2014, Nashville, TN. 2014.

Luo M, Mulchandani S, Gleason A, Skorski M, Mascioli K, Thiel B, Dubbs H, Swarr D, Pyle L, Zackai E, Spinner N, Conlin L: "Hidden Mosaicism Can Explain Genotype-Phenotype Discrepancies" American College of Medical Genetics and Genomics 2014, Nashville, TN. 2014.

Mulchandani S, DeChene E, Dulik M, Conlin L, Abrudan J, Bernhardt B, Pyeritz R, Wilkens A, Noon S, Krantz I, Spinner N: "Lessons Learned Utilizing an Evidence-based Framework for Incidental Findings from Exome Sequencing in the Pediatric Setting" American College of Medical Genetics and Genomics 2014, Nashville, TN. 2014.

Berg Jonathan S, Amendola Laura M, Eng Christine, Allen Eliezer Van, Gray Stacy W, Wagle Nikhil, Rehm Heidi L, Dechene Elizabeth T, Dulik Matthew C, Hisama Fuki M, Burke Wylie, Spinner Nancy B, Garraway Levi, Green Robert C, Plon Sharon, Evans James P, Jarvik Gail P: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genetics in medicine : official journal of the American College of Medical Genetics 15(11): 860-7, Nov 2013 Notes: secondary author.

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Last updated: 08/16/2014
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