PEOPLE

Laura K. Conlin, PhD

Assistant Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
University of Pennsylvania Perelman School of Medicine

Contact InformationThe Children's Hospital of Philadelphia
716C Abramson Research Building
34th and Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-7885

Email: Conlin@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, 2013 - Present
Cancer Genomics Consortium, 2015 - Present
National Institute of General Medical Sciences (NIGMS), 2016 - Present
Clinical Genome Resource (ClinGen), 2017 - present
International Standing Committee on Human Cytogenetic Nomenclature, 2019 - present

Web Links


Selected Publications

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

Rentas S, Pillai V, Wertheim GB, Akgumus GT, Nichols KE, Deardorff MA, Conlin LK, Li MM, Olson TS, Luo M., Cancer Genetics 245(): 42-48, 2020, PMID:32619790

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

Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB, Human Mutation 41(5): , 2020, PMID:31944481

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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, 2020

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

Rajagopalan R, Murrell JR, Luo M, Conlin LK, Genome Medicine 12(1): 14, 2020, PMID:32000839

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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, 2020

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.

Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM., Genetics in Medicine 21(11): 2644-2649, 2019, PMID:31147633

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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA., Genetics in Medicine 21(5): 1100-1110, 2019, PMID:30287922

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

Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A, JAMA Network Open 2(4): e192129, 2019, PMID:30977854

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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

Wu C, Devkota B, Evans P, Zhao X, Baker SW, Niazi R, Cao K, Gonzalez MA, Jayaraman P, Conlin LK, Krock BL, Deardorff MA, Spinner NB, Krantz ID, Santani AB, Tayoun ANA, Sarmady M, European Journal of Human Genetics 27(4): 612-620, 2019, PMID:30626929

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB, The Journal of Molecular Diagnostics 21(1): 38-48, 2019, PMID:30577886

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