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 (CHOP)
Contact InformationChildren’s Hospital of Philadelphia
Department of Pathology and Laboratory Medicine
Abramson Pediatric Research Center, Rm. 716C
3615 Civic Center Blvd.
Philadelphia, PA 19104
Tel: 267-426-7885
Email: conlinl@email.chop.edu
Specialty Division
CHOP Genomic Diagnostics
Education
BS (Chemistry; Biological Sciences minor), Carnegie Mellon University, 2000
PhD (Genetics and Gene Regulation), University of Pennsylvania, 2007
Specialty Certification
Clinical Cytogenetics, American Board of Clinical Genetics, 2009
Clinical Molecular Genetics, American Board of Clinical Genetics, 2011
Postgraduate Training
AMBG Fellow, Clinical Cytogenetics, Children’s Hospital of Philadelphia and the University of Pennsylvania, 2007-09
ABMG Fellow, Clinical Molecular Genetics, Children’s Hospital of Philadelphia and the University of Pennsylvania, 2010-11
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
Poster Day Award, Clinical, Children’s Hospital of Philadelphia, 2009
Trainee Award: 2011 ISCA Consortium Conference, Atlanta, GA, 2011
Memberships and Professional Organizations
American Society of Human Genetics, 2007-present
-------- Program Committee, 2019-21
American Cytogenetic Conference, 2008-present
The Genetic Testing Reference Materials Coordination Program (GeTRM), Chromosomal Microarray Reference Material Project, 2011-13
American College of Medical Genetics, 2012-present
College of American Pathologists, 2012-present
Cancer Genomics Consortium, 2015-present
National Institute of General Medical Sciences (NIGMS), Human Genetic Cell Repository Scientific Advisory Committee, 2016-present
American College of Medical Genetics/College of American Pathologists
-------- Cytogenetics Resource Committee, 2016-20
-------- Biochemical and Molecular Genetics Committee, 2023-28
Clinical Genome Resource (ClinGen), Low Penetrance/Risk Allele Working Group, Recurrent CNV Dosage Sensitivity Subgroup, 2017-present
International Standing Committee on Human Cytogenetic Nomenclature, 2019-present
American College of Medical Genetics, Laboratory Quality Assurance Committee, Molecular Genetics Subcommittee, 2021-23
Web Links
Selected Publications
The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection
Hayeck TJ, Li Y, Mosbruger TL, Bradfield JP, Gleason AG, Damianos G, Shaw GT, Duke JL, Conlin LK, Turner TN, Fernández-Viña MA, Sarmady M, Monos DS. Genome Biol Evol 16(2):evae009, Feb 2024. doi: 10.1093/gbe/evae009. PMID: 38302106; PMCID: PMC10853003.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Genet Med 26(3):101036, Dec 2023. doi: 10.1016/j.gim.2023.101036. Epub ahead of print. PMID: 38054408.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, et al. Genet Med 25(12):100947, Dec 2023. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. PMID: 37534744; PMCID: PMC10825061.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield
Yamamoto N, Balciuniene J, Hartman T, Diaz-Miranda MA, Bedoukian E, Devkota B, Lawrence A, Golenberg N, Patel M, Tare A, Chen R, Schindler E, Choi J, Kaur M, Charles S, Chen J, Fanning EA, Dechene E, Cao K, Jill MR, Rajagopalan R, Bayram Y, Dulik MC, Germiller J, Conlin LK, Krantz ID, Luo M. J Pediatr 262:113620, Nov 2023. doi: 10.1016/j.jpeds.2023.113620. Epub 2023 Jul 19. PMID: 37473993.
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development
Izumi K, Ganetzky RD, Wertheim GBW, Skraban CM, Bedoukian EC, Wilkens A, Fincher C, Thomas NH, Ginsberg JP, Rheingold SR, Conlin LK, Deardorff MA. Mol Syndromol 14(4):303-309, Aug 2023. doi: 10.1159/000530197. Epub 2023 May 5. PMID: 37589028; PMCID: PMC10425716.
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. Hum Mutat 43(12):1837-1843, Dec 2022. doi: 10.1002/humu.24443. Epub 2022 Aug 2. PMID: 35870179.
Long-read sequencing for molecular diagnostics in constitutional genetic disorders
Conlin LK, Aref-Eshghi E, McEldrew DA, Luo M, Rajagopalan R. Hum Mutat 43(11):1531-1544, Nov 2022. doi: 10.1002/humu.24465. Epub 2022 Sep 18. PMID: 36086952; PMCID: PMC9561063.
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 Harb Mol Case Stud 8(3):a006181, Apr 2022. doi: 10.1101/mcs.a006181. PMID: 35232817; PMCID: PMC9059784.
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. Mol Cytogenet 15(1):10, Mar 2022. doi: 10.1186/s13039-022-00579-0. PMID: 35248119; PMCID: PMC8898488.
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. J Mol Diagn 24(3):274-286, Mar 2022. doi: 10.1016/j.jmoldx.2021.12.002. Epub 2022 Jan 19. PMID: 35065284; PMCID: PMC9904168.
