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
Graduate Group Affiliations

Contact information
The Children's Hospital of Philadelphia
716C Abramson Research Building
34th and Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-7885
BS (Chemistry with a minor in Biological Sciences)
Carnegie Mellon University, 2000.
PhD (Genetics and Gene Regulation)
University of Pennsylvania, 2007.
Permanent link
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Selected Publications

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 : 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. Archives of Pathology & Laboratory Medicine 145(2): 176-190, Feb 2021.

Rajagopalan R*, Gilbert MA*, McEldrew DA, Nassur JA, Loomes KL, Piccoli DA, Krantz ID, Conlin LK, Spinner NB. : Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results. Genetic in Medicine 23(2): 323-330, Feb 2021.

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.: A Case of a Parthenogenetic 46,XX/46,XY Chimera Presenting Ambiguous Genitalia. Journal of Human Genetics 65(8), Aug 2020.

Rentas S, Pillai V, Wertheim GB, Akgumus GT, Nichols KE, Deardorff MA, Conlin LK, Li MM, Olson TS, Luo M.: Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. Cancer Genetics 245: 42-48, July 2020.

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: Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Human Mutation 41(5), May 2020.

Rajagopalan R, Murrell JR, Luo M, Conlin LK: A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. Genome Medicine 12(1): 14, Jan 2020.

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.: Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genetics in Medicine 21(11): 2644-2649, Nov 2019 Notes: doi: 10.1038/s41436-019-0551-9. Epub 2019 May 31.

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.: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genetics in Medicine 21(5): 1100-1110, May 2019 Notes: Correction: PMID: 30670880.

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: Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. JAMA Network Open 2(4): e192129, Apr 2019.

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: Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. European Journal of Human Genetics 27(4): 612-620, Apr 2019.

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Last updated: 03/03/2021
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