Faculty

Laura K Conlin, PhD

Associate Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia

Department: Pathology and Laboratory Medicine

Graduate Group Affiliations

Genomics and Computational Biology

Contact information

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

Office: 267-426-7885

Email:
conlinl@chop.edu

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

Permanent link

> Perelman School of Medicine > Faculty > Details

Selected Publications

Vainstein S, Chan J, March ME, Luo M, Conlin L, Glessner J, Li D, Kao C, Harr M, Menello C, Ahrens-Nicklas RC, Rand EB, Zackai EH, Guay Woodford L, Wang K, Gold JI, Gold NB, Strong A.: The Need for Clinical Diagnostic Proficiency in the Genomic Era. Pediatrics 158: e2026076450, Sep 2026.

Mighton C, Abu-El-Haija A, Aggarwal V, Akkari YMN, Astbury C, Best DH, Conlin LK, Harrison SM, Jiang N, Kruszka P, McKnight D, Nguyen Dolphyn TT, Barquet Ramos F, Thomas CP, Bean LJH, Rehm HL; Laboratory Quality Assurance Committee.: Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med July 2026.

Callahan KP, Wild KT, Heck A, Conlin L, Dulik MC, Munson D, Feudtner C, Reichert SL, Burrill N, Krantz I, Spinner NB.: Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing. JAMA Netw Open 9: e265689, Apr 2026.

Jadhav T, Aruta M, Diaz-Miranda MA, Zucco A, Conlin LK, Rajagopalan R, Wang J.: Evaluation of PacBio Long-Read and PCR-Based Short-Read Sequencing for Mitochondrial DNA (mtDNA) Variant Detection, with an Emphasis on Detection and Quantification of mtDNA Deletion. Int J Mol Sci 27: 3562, Apr 2026.

Erkut E, Somerville C, Schwartz MLB, McDonald L, Ding Q, Moran OM, Chen X, Manshaei R, Riedijk AS, Schnürer MT, Koboldt DC, Antonarakis SE, Bedoukian EC, Blanc X, Conlin LK, Cox H, Diderich KEM, Dingmann B, Dubourg C, Elmslie F, Escobar LF, Gosselin R, Guillen Sacoto MJ, Haag CD, Herzig L, Jeeneea R, Kenia P, Kolokotronis K, Kopps AM, Kupper C, Lees H, Leonard J, Levy J, Littlejohn R, Mayer D, McLean SD, Pattani N, Perrin L, Pingault V, Quelin C, Ranza E, Rauch A, Reichert SL, Rosmaninho-Salgado J, Skraban C, Sousa S, Stuebben M, Zanoni P, Kim RH, Scott IC, Jobling RK.: A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B. Am J Hum Genet 112: 2625-2642, Nov 2025.

Wild KT, Reichert SL, Dulik MC, Heck A, Bedoukian EC, Wood KH, Callahan KP, Hershey JA, Munson DA, Pechter KB, Regan-Fendt K, Gacita AM, Reynoso Santos FJ, McManus ML, Burrill N, Diaz-Miranda MA, Gilbert MA, Krantz ID, Rajagopalan R, Conlin LK, Spinner NB.: Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants. Genet Med Open 4: 103476, Nov 2025.

Kilich G, Maurer K, Jadhav T, Jammihal T, Zhang Z, Hartung H, Izumi K, Hassey K, Raper A, Schindewolf E, Conlin L, Ganetzky R, Li M, Glader B, Rajagopalan R, Sullivan KE.: An Unusual Cause of Hexokinase 1 Deficiency-Case Report. EJHaem 6: e70123, Aug 2025.

Akkari Y, Conlin L, DeAvila D, Gardner JA, Halley J, Raca G, Toydemir RM, Tsuchiya K, Rehder C; CAP/ACMG Cytogenetics Committee.: The CAP/ACMG CYCGH proficiency testing program: 10 years in review. Genet Med 27: 101445, Apr 2025.

Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Shen Y, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Abou Jamra R, Gabriel H, Rentas S, Rippert AL, Gray C, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Eker HK, Pehlivan D, Posey JE, Lippa NC, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid MS, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Perez-Duenas B, Cazurro-Gutierrez A, Verdura E, Cantarin-Extremera V, Marques ADV, Helwak A, Tollervey D, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J.: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nature Communications 16: 1703, Feb 2025.

Conlin LK, Landrum MJ, Freimuth RR, Funke B.: Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges. Clinical Chemistry 71: 45-53, Jan 2025.