Laura K. Conlin, PhD, FACMG 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 Additional TrainingPostdoctoral training in Cytogenetics and Molecular Genetics - The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA Graduate DegreePhD- University of Pennsylvania, Philadelphia, PA Titles and Academic Titles Director, Genomic Diagnostics LaboratoryAssistant Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania Departments and Services Division of Genomic Diagnostics Publications Papers2018 Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker S, Adzick NS, Bamba V, 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 Pediatrics 89:413-422, 2018. 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. BooksChapters Spinner NB, Conlin LK: Chromosome Disorders Harrison's Principles and Practice of Internal Medicine, 19th Edition 2014. 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. Editorial and Academic Positions Editorial Positions Academic and Institutional Committees 2013-present, Member, Division of Genomic Diagnostics Executive Committee, Department of Pathology, Children's Hospital of Philadelphia 2013-present, Member, Lab Information Systems Implementation Committee, Department of Pathology, Children's Hospital of Philadelphia 2011-present, Member, Chromosomal Microarray reference material project, The Genetic Testing Reference Materials Coordination Program(GeT-RM) Leadership and Memberships Memberships in Professional Organizations 2016-2019, NIGMS Human Genetic Cell Repository Scientific Advisory Committee, Committee member 2015-2021, College of American Pathologists - Member, Cytogenetics Resource Committee 2013-present, American College of Medical Genetics 2012-present, College of American Pathologists, Team Member, Inspections 2008-present, American Cytogenetic Conference 2007-present, American Society of Human Genetics Patient Experience Ratings About the Patient Experience Rating System The Patient Experience Rating is an average of all responses to the care provider related questions shown above from our nationally-recognized Press Ganey Patient Satisfaction Survey. 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