PEOPLE

Laura K. Conlin, PhD

Assistant Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
University of Pennsylvania Perelman School of Medicine

Contact InformationThe Children's Hospital of Philadelphia
716C Abramson Research Building
34th and Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-7885

Email: conlin@mail.med.upenn.edu

Specialty Division

Immunobiology and Experimental Pathology

Education

BS (Chemistry with a minor in Biological Sciences), Carnegie Mellon University, 2000
PhD (Genetics and Gene Regulation), University of Pennsylvania, 2007

Specialty Certification

American Board of Clinical Genetics, Clinical Cytogenetics, 2009
American Board of Clinical Genetics, Clinical Molecular Genetics, 2011

Postgraduate Training

AMBG Fellowship Clinical Cytogenetics , The Children’s Hospital of Philadelphia and the University of Pennsylvania, 2007-2009
ABMG Fellowship Clinical Molecular Genetics, The Children’s Hospital of Philadelphia and the University of Pennsylvania, 2010-2011

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
Children’s Hospital of Philadelphia, Poster Day Award, Clinical, 2009
Trainee Award: 2011 ISCA Consortium Conference, January 2011; Atlanta, GA, 2011

Memberships and Professional Organizations

American Society of Human Genetics, 2007 - Present
American Cytogenetic Conference, 2008 - Present
College of American Pathologists, 2012 - Present
American College of Medical Genetics, 2013 - Present
College of American Pathologists, 2015 - 2021
NIGMS Human Genetic Cell Repository Scientific Advisory Committee, 2016 - 2019

Web Links


Selected Publications

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

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, American journal of human genetics 99(1): 247, 2016, PMID:27392081

Read article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

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, American journal of human genetics 99(1): 246, 2016, PMID:27392080

Read article

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

Fujiki Katsunori, Shirahige Katsuhiko, Kaur Maninder, Deardorff Matthew A, Conlin Laura K, Krantz Ian D, Izumi Kosuke, Molecular genetics & genomic medicine 4(3): 257-61, 2016, PMID:27247953

Read article

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

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, Journal of medical genetics 53(1): 53-61, 2016, PMID:26545876

Read article

Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect.

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, The Journal of clinical endocrinology and metabolism, 2016, PMID:26756113

Read article

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.

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, Molecular genetics & genomic medicine 3(5): 452-8, 2015, PMID:26436111

Read article

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

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, Genetics in medicine : official journal of the American College of Medical Genetics, 2015, PMID:26248010

Read article

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

Luo Minjie, Mulchandani Surabhi, Dubbs Holly A, Swarr Daniel, Pyle Louise, Zackai Elaine H, Spinner Nancy B, Conlin Laura K, American journal of medical genetics. Part A, 2015, PMID:26198585

Read article

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

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, Human genomics 9(): 15, 2015, PMID:26187847

Read article

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

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, Genome research, 2015, PMID:25637381

Read article