PEOPLE

Laura K. Conlin, PhD, FACMG

Associate Professor of Pathology and Laboratory Medicine at Children's Hospital of Philadelphia
Perelman School of Medicine at the University of Pennsylvania 
Director, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Contact InformationChildren's Hospital of Philadelphia
716C Abramson Research Building
34th and Civic Center Blvd
Philadelphia, PA 19104

Office: 267-426-7885

Email: conlinl@email.chop.edu

Education

BS (Chemistry with a minor in Biological Sciences), Carnegie Mellon University, 2000
PhD (Genetics and Gene Regulation), University of Pennsylvania, 2007

Specialty Certification

American Board of Clinical Genetics, Clinical Cytogenetics, 2009
American Board of Clinical Genetics, Clinical Molecular Genetics, 2011

Postgraduate Training

AMBG Fellowship Clinical Cytogenetics , The Children’s Hospital of Philadelphia and the University of Pennsylvania, 2007-2009
ABMG Fellowship Clinical Molecular Genetics, The Children’s Hospital of Philadelphia and the University of Pennsylvania, 2010-2011

Awards and Honors

Dean’s List, Carnegie Mellon University, 1996-2000
Howard Hughes Summer Undergraduate Research Scholar, 1998
Phi Beta Kappa, 2000
Phi Kappa Phi, Science Honor Society, 2000
Leadership Award, Carnegie Mellon University, 2000
Small Undergraduate Research Grant Recipient, Carnegie Mellon University, 2000
Student Award: 2006 GSA Yeast Genetics and Molecular Biology Meeting, Princeton, NJ, 2006
Children’s Hospital of Philadelphia, Poster Day Award, Clinical, 2009
Trainee Award: 2011 ISCA Consortium Conference, January 2011; Atlanta, GA, 2011

Memberships and Professional Organizations

American Society of Human Genetics, 2007 - Present
American Cytogenetic Conference, 2008 - Present
The Genetic Testing Reference Materials Coordination Program(GeT­RM), 2011 - 2013
College of American Pathologists, 2012 - Present
American College of Medical Genetics, 2012 - present
Cancer Genomics Consortium, 2015 - Present
National Institute of General Medical Sciences (NIGMS), 2016 - Present
American College of Medical Genetics/College of American Pathologists, 2016 - 2020
Clinical Genome Resource (ClinGen), 2017 - present
International Standing Committee on Human Cytogenetic Nomenclature, 2019 - present
American Society of Human Genetics, 2019 - 2021
American College of Medical Genetics, 2021 - 2023

Web Links


Selected Publications

Long-read sequencing for molecular diagnostics in constitutional genetic disorders

Conlin LK, Aref-Eshghi E, McEldrew DA, Luo M, Rajagopalan R., Human Mutation, 2022, PMID:36086952

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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Li D, Strong A, Hou C, Downes H, Pritchard AB, Mazzeo P, Zackai EH, Conlin LK, Hakonarson H., Molecular Cytogenetics 15(): 33, 2022, PMID:35932041

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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss

Chen R, Diaz-Miranda MA, Aref-Eshghi E, Hartman TR, Griffith C, Morrison JL, Wheeler PG, Torti E, Richard G, Kenna M, Dechene ET, Spinner NB, Bai R, Conlin LK, Krantz ID, Amr SS, Luo M., Human Mutation, 2022, PMID:35870179

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A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome

Xu F, Aref-Eshghi E, Wu J, Schubert J, Wertheim G, Bhatti T, Pogoriler J, Patel M, Cao K, Long A, Fan Z, Denenberg EH, Fanning EA, Wilmoth DM, Luo M, Conlin LK, Dain AS, Zelley K, Baldino S, Balamuth N, MacFarland S, Li MM, Zhong Y., Cold Spring Harbor Molecular Case Studies 8(): a006181, 2022, PMID:35232817

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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

Hu X, Baker EK, Johnson J, Balow S, Pena LDM, Conlin LK, Guan Q, Smolarek TA., Molecular Cytogenetics 15(): 10, 2022, PMID:35248119

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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB., Journal of Molecular Diagnostics 24(3): 274-286, 2022, PMID:35065284

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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

El Ghaleb Y, Schneeberger PE, Fernández-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE., Brain 144(): 2092-2106, 2021, PMID:33704440

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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

Larson DP, Akkari YM, Van Dyke DL, Raca G, Gardner J, Rehder CW, Kaiser-Rogers KA, Eagle P, Yuhas JA, Gu J, Toydemir RM, Kearney H, Conlin LK, Tang G, Dolan MM, Ketterling KP, Peterson JF, Archives of Pathology & Laboratory Medicine 145(2): 176-190, 2021, PMID:32886736

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

Rajagopalan R*, Gilbert MA*, McEldrew DA, Nassur JA, Loomes KL, Piccoli DA, Krantz ID, Conlin LK, Spinner NB., Genetic in Medicine 23(2): 323-330, 2021, PMID:33077891

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A Case of a Parthenogenetic 46,XX/46,XY Chimera Presenting Ambiguous Genitalia.

Kawamura R, Kato T, Miyai S, Suzuki F, Naru Y, Kato M, Tanaka K, Nagasaka M, Tsutsumi M, Inagaki H, Ioroi T, Yoshida M, Nao T, Conlin LK, Iijima K, Kurahashi H, Taniguchi-Ikeda M., Journal of Human Genetics 65(8): , 2020, PMID:32277176

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