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

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.

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.

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.

Iwata-Otsubo A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, Skraban CM, Gray C, Zackai EH, Dubbs HA, Deardorff MA, Conlin LK, Izumi K.: 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome. Genes (Basel) 16: 136, Jan 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.

Guess T, Wheeler FC, Yenemandra A, Schilit SLP, Anderson HS, Bone KM, Carstens B, Conlin L, Dulik MC, Dupont BR, Fanning E, Gardner JA, Haag M, Hilton BA, Johnson J, Kogan J, Murry J, Polonis K, Quigley DI, Repnikova EA, Rowsey RA, Spinner N, Stoeker M, Thurston V, Wiley M, Zhang L.: A multi-center analysis of individuals with a 47,XXY/46,XX karyotype. Genetics in Medicine 26(10), July 2024.

Luo M, Wong D, Zelley K, Wu J, Schubert J, Denenberg EH, Fanning EA, Chen J, Gallo D, Golenberg N, Patel M, Conlin LK, Maxwell KN, Wertheim GB, Surrey LF, Zhong Y, Brodeur GM, MacFarland SP, Li MM.: Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence. Journal of the National Cancer Institute May 2024.

Wild KT, Conlin L, Blair J, Manfredi M, Hamilton TE, Muir A, Zackai EH, Nace G, Partridge EA, Devine M, Reynolds T, Rintoul NE, Hedrick HL, Spinner N, Krantz ID.: Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review. Journal of Pediatrics 271: 114060, April 2024.