Laura K. Conlin, PhD, FACMG

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Laura K. Conlin, PhD, FACMG, is a director in the Division of Genomic Diagnostics at Children's Hospital of Philadelphia.

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Fellowship

Clinical Cytogenetics - Children's Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, PA
Clinical Molecular Genetics - Children's Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, PA

Board Certification

Clinical Cytogenetics
Clinical Molecular Genetics

Undergraduate Degree

BS in Chemistry - Carnegie Mellon University, Pittsburg, PA

Graduate Degree

PhD in Genetics and Gene Regulation - University of Pennsylvania, Philadelphia, PA

 

Titles and Academic Titles

Laboratory Director, Division of Genomic Diagnostics

Associate Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania

Departments and Services

Publications

Papers

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.

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.

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.

2019

Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB: Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. The Journal of Molecular Diagnostics 21(1): 38-48, Jan 2019.

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.

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.

2018

Romasko EJ, Devkota B, Biswas S, Jayaraman V, Rajagopalan R, Dulik MC, Thom CS, Choi J, Jairam S, Scarano MI, Krantz ID, Spinner NB, Conlin LK, Lambert MP: Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. American Journal of Hematology 93(1): 8-16, Jan 2018.

Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Luo M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genetics in Medicine 20(3): 329-336, Mar 2018 Notes: CORRIGENDUM: PMID:29419820

Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA: Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. Hormone Research in Paediatrics 89(6): 413-422, Aug 2018.

Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS: Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Molecular Genetics & Genomic Medicine 6(6): 898-909, Nov 2018.

Guan Q, Balciuniene J, Cao K, Fan Z, Biswas S, Wilkens A, Gallo DJ, Bedoukian E, Tarpinian J, Jayaraman P, Sarmady M, Dulik M, Santani A, Spinner N, Abou Tayoun AN, Krantz ID, Conlin LK, Luo M: AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genetics in Medicine 20(12): 1600-1608, Dec 2018.

Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID: Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genetics in Medicine 20(12): 1663-1676, Dec 2018.

2017

Ahrens-Nicklas RC, Umanah GKE, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED: Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurology Genetics 3(1): e130, Feb 2017.

2016

Green Robert C, Goddard Katrina A B, Jarvik Gail P, Amendola Laura M, Appelbaum Paul S, Berg Jonathan S, Bernhardt Barbara A, Biesecker Leslie G, Biswas Sawona, Blout Carrie L, Bowling Kevin M, Brothers Kyle B, Burke Wylie, Caga-Anan Charlisse F, Chinnaiyan Arul M, Chung Wendy K, Clayton Ellen W, Cooper Gregory M, East Kelly, Evans James P, Fullerton Stephanie M, Garraway Levi A, Garrett Jeremy R, Gray Stacy W, Henderson Gail E, Hindorff Lucia A, Holm Ingrid A, Lewis Michelle Huckaby, Hutter Carolyn M, Janne Pasi A, Joffe Steven, Kaufman David, Knoppers Bartha M, Koenig Barbara A, Krantz Ian D, Manolio Teri A, McCullough Laurence, McEwen Jean, McGuire Amy, Muzny Donna, Myers Richard M, Nickerson Deborah A, Ou Jeffrey, Parsons Donald W, Petersen Gloria M, Plon Sharon E, Rehm Heidi L, Roberts J Scott, Robinson Dan, Salama Joseph S, Scollon Sarah, Sharp Richard R, Shirts Brian, Spinner Nancy B, Tabor Holly K, Tarczy-Hornoch Peter, Veenstra David L, Wagle Nikhil, Weck Karen, Wilfond Benjamin S, Wilhelmsen Kirk, Wolf Susan M, Wynn Julia, Yu Joon-Ho: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American journal of human genetics 99(1): 246, Jul 2016 Notes: Listed as Collaborator. PMCID: PMC4908179.

Amendola Laura M, Jarvik Gail P, Leo Michael C, McLaughlin Heather M, Akkari Yassmine, Amaral Michelle D, Berg Jonathan S, Biswas Sawona, Bowling Kevin M, Conlin Laura K, Cooper Greg M, Dorschner Michael O, Dulik Matthew C, Ghazani Arezou A, Ghosh Rajarshi, Green Robert C, Hart Ragan, Horton Carrie, Johnston Jennifer J, Lebo Matthew S, Milosavljevic Aleksandar, Ou Jeffrey, Pak Christine M, Patel Ronak Y, Punj Sumit, Richards Carolyn Sue, Salama Joseph, Strande Natasha T, Yang Yaping, Plon Sharon E, Biesecker Leslie G, Rehm Heidi L: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. American journal of human genetics 99(1): 247, Jul 2016. PMCID: PMC4908185.

Fujiki Katsunori, Shirahige Katsuhiko, Kaur Maninder, Deardorff Matthew A, Conlin Laura K, Krantz Ian D, Izumi Kosuke: Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. Molecular genetics & genomic medicine 4(3): 257-61, May 2016. PMCID: PMC4867559.

Kalish Jennifer M, Boodhansingh Kara E, Bhatti Tricia R, Ganguly Arupa, Conlin Laura K, Becker Susan A, Givler Stephanie, Mighion Lindsey, Palladino Andrew A, Adzick N Scott, De León Diva D, Stanley Charles A, Deardorff Matthew A: Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. Journal of medical genetics 53(1): 53-61, Jan 2016. PMCID: PMC4740975.

Bhatti Tricia R, Ganapathy Karthik, Huppmann Alison R, Conlin Laura, Boodhansingh Kara E, MacMullen Courtney, Becker Susan, Ernst Linda M, Adzick N Scott, Ruchelli Eduardo D, Ganguly Arupa, Stanley Charles A: Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect. The Journal of clinical endocrinology and metabolism Page: jc20152914, Jan 2016.

2015

Ganetzky Rebecca, Finn Erin, Bagchi Atrish, Zollo Ornella, Conlin Laura, Deardorff Matthew, Harr Margaret, Simpson Michael A, McGrath John A, Zackai Elaine, Lemmon Mark A, Sondheimer Neal: EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. Molecular genetics & genomic medicine 3(5): 452-8, Sep 2015. PMCID: PMC4585453.

Mulchandani Surabhi, Bhoj Elizabeth J, Luo Minjie, Powell-Hamilton Nina, Jenny Kim, Gripp Karen W, Elbracht Miriam, Eggermann Thomas, Turner Claire L S, Temple I Karen, Mackay Deborah J G, Dubbs Holly, Stevenson David A, Slattery Leah, Zackai Elaine H, Spinner Nancy B, Krantz Ian D, Conlin Laura K: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genetics in medicine : official journal of the American College of Medical Genetics Aug 2015.

Luo Minjie, Mulchandani Surabhi, Dubbs Holly A, Swarr Daniel, Pyle Louise, Zackai Elaine H, Spinner Nancy B, Conlin Laura K: Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. American journal of medical genetics. Part A Jul 2015.

Li Mindy H, Abrudan Jenica L, Dulik Matthew C, Sasson Ariella, Brunton Joshua, Jayaraman Vijayakumar, Dugan Noreen, Haley Danielle, Rajagopalan Ramakrishnan, Biswas Sawona, Sarmady Mahdi, DeChene Elizabeth T, Deardorff Matthew A, Wilkens Alisha, Noon Sarah E, Scarano Maria I, Santani Avni B, White Peter S, Pennington Jeffrey, Conlin Laura K, Spinner Nancy B, Krantz Ian D, Vetter Victoria L: Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Human genomics 9: 15, Jul 2015. PMCID: PMC4506570.

Amendola Laura M, Dorschner Michael O, Robertson Peggy D, Salama Joseph S, Hart Ragan, Shirts Brian H, Murray Mitzi L, Tokita Mari J, Gallego Carlos J, Kim Daniel Seung, Bennett James T, Crosslin David R, Ranchalis Jane, Jones Kelly L, Rosenthal Elisabeth A, Jarvik Ella R, Itsara Andy, Turner Emily H, Herman Daniel S, Schleit Jennifer, Burt Amber, Jamal Seema M, Abrudan Jenica L, Johnson Andrew D, Conlin Laura K, Dulik Matthew C, Santani Avni, Metterville Danielle R, Kelly Melissa, Foreman Ann Katherine M, Lee Kristy, Taylor Kent D, Guo Xiuqing, Crooks Kristy, Kiedrowski Lesli A, Raffel Leslie J, Gordon Ora, Machini Kalotina, Desnick Robert J, Biesecker Leslie G, Lubitz Steven A, Mulchandani Surabhi, Cooper Greg M, Joffe Steven, Richards C Sue, Yang Yaoping, Rotter Jerome I, Rich Stephen S, O'Donnell Christopher J, Berg Jonathan S, Spinner Nancy B, Evans James P, Fullerton Stephanie M, Leppig Kathleen A, Bennett Robin L, Bird Thomas, Sybert Virginia P, Grady William M, Tabor Holly K, Kim Jerry H, Bamshad Michael J, Wilfond Benjamin, Motulsky Arno G, Scott C Ronald, Pritchard Colin C, Walsh Tom D, Burke Wylie, Raskind Wendy H, Byers Peter, Hisama Fuki M, Rehm Heidi, Nickerson Debbie A, Jarvik Gail P: Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome research Jan 2015.

2014

Kaur Maninder, Izumi Kosuke, Wilkens Alisha B, Chatfield Kathryn C, Spinner Nancy B, Conlin Laura K, Zhang Zhe, Krantz Ian D: Genome-wide expression analysis in fibroblast cell lines from probands with pallister killian syndrome. PloS one 9(10): e108853, Oct 2014. PMCID: PMC4199614.

Jarvik Gail P, Amendola Laura M, Berg Jonathan S, Brothers Kyle, Clayton Ellen W, Chung Wendy, Evans Barbara J, Evans James P, Fullerton Stephanie M, Gallego Carlos J, Garrison Nanibaa' A, Gray Stacy W, Holm Ingrid A, Kullo Iftikhar J, Lehmann Lisa Soleymani, McCarty Cathy, Prows Cynthia A, Rehm Heidi L, Sharp Richard R, Salama Joseph, Sanderson Saskia, Van Driest Sara L, Williams Marc S, Wolf Susan M, Wolf Wendy A, Burke Wylie: Return of genomic results to research participants: the floor, the ceiling, and the choices in between. American journal of human genetics 94(6): 818-26, Jun 2014 Notes: listed as a collaborator, under CSER Act-ROR Working Group. PMCID: PMC4121476.

Guilherme Roberta Santos, Soares Karina Cunha, Simioni Milena, Vieira Tarsis Paiva, Gil-da-Silva-Lopes Vera Lúcia, Kim Chong Ae, Brunoni Décio, Spinner Nancy Bettina, Conlin Laura Kathleen, Christofolini Denise Maria, Kulikowski Leslie Domenici, Steiner Carlos Eduardo, Melaragno Maria Isabel: Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. American journal of medical genetics. Part A Apr 2014.

Salas-Labadía Consuelo, Cervantes-Barragán David E, Cruz-Alcívar Roberto, Daber Robert D, Conlin Laura K, Leonard Laura D, Spinner Nancy B, Durán-McKinster Carola, Dávila-Ortíz de Montellano David J, Del Castillo-Ruiz Victoria, Pérez-Vera Patricia: Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. American journal of medical genetics. Part A Mar 2014.

2013

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG: Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American Journal of Human Genetics 92(3): 392-400, Mar 2013.

Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA: Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy-Genotypic Overlap with Pseudoxanthoma Elasticum. The Journal of Investigative Dermatology Sep 2013.

Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SFA, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID: PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. American Journal of Medical Genetics. Part A 161(9): 2134-47, Sep 2013 Notes: Co-first author.

Berg JS, Amendola LM, Eng C, Allen EV, Gray SW, Wagle N, Rehm HL, Dechene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genetics in Medicine 15(11): 860-7, Nov 2013 Notes: secondary author.

2012

Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID: Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. American Journal of Medical Genetics. Part A 158A(2): 298-308, Feb 2012.

Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID: Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. American Journal of Medical Genetics. Part A 158A(12): 3046-53, Dec 2012.

2011

Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB: Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. Journal of Medical Genetics 48(1): 1-9, Jan 2011.

Guilherme RS, Ayres Meloni VF, Kim CA, Pellegrino R, Takeno SS, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Melaragno MI: Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Medical Genetics 12: 171, Dec 2011.

Zhang L, Znoyko I, Costa LJ, Conlin LK, Daber RD, Self SE, Wolff DJ: Clonal diversity analysis using SNP microarray: a new prognostic tool for chronic lymphocytic leukemia. Cancer Genetics 204(12): 654-65, Dec 2011.

2010

Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio Marlène, McMullan DJ, Cox H, Fagan Kerry A, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DAS: Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? European Journal of Medical Genetics 53(2): 93-9, Mar-Apr 2010.

Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB: Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Human Molecular Genetics 19(7): 1263-75, Apr 2010.

2009

Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SFA, Hakonarson H, Krantz ID, Spinner NB: SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Human Mutation 30(3): 371-8, Mar 2009.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SFA, White PS, Hakonarson H: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Research 19(9): 1682-90, Sep 2009.

2008

Dashnau JL, Conlin LK, Nelson HCM, Vanderkooi JM: Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock. Biochimica et Biophysica Acta 1780(1): 41-50, Jan 2008.

DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H: Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. American Journal of Medical Genetics. Part A 146A(6): 730-9, Mar 2008.

2007

Conlin LK, Nelson HCM: The natural osmolyte trehalose is a positive regulator of the heat-induced activity of yeast heat shock transcription factor. Molecular and Cellular Biology 27(4): 1505-15, Feb 2007.

2003

Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, Morley M, Spielman RS: Natural variation in human gene expression assessed in lymphoblastoid cells. Nature Genetics 33(3): 422-5, Mar 2003.

Books

Chapters

2014

Spinner NB, Conlin LK: Chromosome Disorders  Harrison's Principles and Practice of Internal Medicine, 19th Edition 2014.

2013

Spinner, NB, Conlin, LK, Mulchandani S, and Emanuel BS: Deletions and Other Abnormalities of the Autosomes. Principles and Practice of Medical Genetics. Sixth Edition. Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H (eds.). Churchill Livingstone, 2013.

Posters and Presentations

Invited Lectures

2021

Conlin LK. "Improving the detection of clinically-relevant large-scale variants from Next-Generation Sequencing data", St. Jude Children's Research Hospital, Department of Pathology, virtual meeting. Oct 2021.

Conlin LK. "Clinical laboratory genetics - translating research into clinical diagnostics", Molecular Biology Institute Graduate Student Seminar Series, San Diego State University, virtual meeting. May 2021.

2020

Conlin LK. "Improving the detection of clinically-relevant large-scale variants from next-generation sequencing data", Clinical Sequencing R01 Project Updates, Clinical Sequencing Evidence-Generating Research (CSER) Consortium meeting (Spring), Bethesda, MD. Feb 2020.

2019

Conlin LK. "Using SNP data in interpretation of Complex Chromosomal Microarray Cases - Low level mosaicism" Workshop on Validation and Quality Assurance for CMA and NGS Testing, Cancer Genomics Consortium Pre-Meeting Workshop, Nashville, TN. Aug 2019.

Conlin LK. "Update on Using orthogonal methodologies to improve detection and interpretation of clinically relevant structural variants", Clinical Sequencing R01 Project Updates, Clinical Sequencing Evidence-Generating Research (CSER) Consortium meeting (Winter), Bethesda, MD. Jan 2019.

Awards and Honors

2011, Trainee Award: 2011 ISCA Consortium Conference, January 2011; Atlanta, GA
2009, Children's Hospital of Philadelphia, Poster Day Award, Clinical
2006, Student Award: 2006 GSA Yeast Genetics and Molecular Biology Meeting, Princeton, NJ
2000, Phi Beta Kappa
2000, Small Undergraduate Research Grant Recipient, Carnegie Mellon University
2000, Leadership Award, Carnegie Mellon University
2000, Phi Kappa Phi, Science Honor Society
1998, Howard Hughes Summer Undergraduate Research Scholar
1996-2000, Dean's List, Carnegie Mellon University

Editorial and Academic Positions

Editorial Positions

2012-present, Reviewer, Genetics in Medicine
2011-present, Reviewer, PLoS
2010-present, Reviewer, Human Mutation
2010-present, Reviewer, Genome Research
2010-present, Reviewer, Clinical Genetics
2010-present, Reviewer, American Journal of Medical Genetics

Leadership and Memberships

Memberships in Professional Organizations

International

2019-present, International Standing Committee on Human Cytogenetic Nomenclature

National

2021-2023, American College of Medical Genetics
 - 2021-2023, Laboratory Quality Assurance Committee - Molecular Genetics Subcommittee
2017-present, Clinical Genome Resource (ClinGen)
 - 2017-present, Low Penetrance/Risk Allele Working Group
 - 2017-present, Recurrent CNV Dosage Sensitivity Subgroup
2016-present, National Institute of General Medical Sciences (NIGMS)
 - 2016-present, Human Genetic Cell Repository Scientific Advisory Committee
2015-present, Cancer Genomics Consortium
2012-present, College of American Pathologists
2012-present, American College of Medical Genetics
2008-present, American Cytogenetic Conference
2007-present, American Society of Human Genetics