Selected Publications

Conlin LK, Aref-Eshghi E, McEldrew DA, Luo M, Rajagopalan R.: Long-read sequencing for molecular diagnostics in constitutional genetic disorders. Human Mutation Sep 2022.

Li D, Strong A, Hou C, Downes H, Pritchard AB, Mazzeo P, Zackai EH, Conlin LK, Hakonarson H.: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. Molecular Cytogenetics 15: 33, Aug 2022.

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.: Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Human Mutation Jul 2022.

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.: A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome. Cold Spring Harbor Molecular Case Studies 8: a006181, April 2022.

Hu X, Baker EK, Johnson J, Balow S, Pena LDM, Conlin LK, Guan Q, Smolarek TA.: Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Molecular Cytogenetics 15: 10, Mar 2022.

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.: Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? Journal of Molecular Diagnostics 24(3): 274-286, March 2022.

El Ghaleb Y, Schneeberger PE, Fernández-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE.: CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders. Brain 144: 2092-2106, August 2021.

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.