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

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
Cancer Genomics Consortium, 2015 - Present
College of American Pathologists/American College of Medical Genetics and Genomics, 2015 - 2020
NIGMS Human Genetic Cell Repository Scientific Advisory Committee, 2016 - 2019
American Society of Human Genetics, 2019 - 2021
International Standing Committee on Human Cytogenetic Nomenclature, 2019 - 2023

Web Links


Selected Publications

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

Wu Chao, Devkota Batsal, Evans Perry, Zhao Xiaonan, Baker Samuel W, Niazi Rojeen, Cao Kajia, Gonzalez Michael A, Jayaraman Pushkala, Conlin Laura K, Krock Bryan L, Deardorff Matthew A, Spinner Nancy B, Krantz Ian D, Santani Avni B, Tayoun Ahmad N Abou, Sarmady Mahdi, European Journal of Human Genetics, 2019, PMID:30626929

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

Baker Samuel W, Murrell Jill R, Nesbitt Addie I, Pechter Kieran B, Balciuniene Jorune, Zhao Xiaonan, Yu Zhenming, Denenberg Elizabeth H, DeChene Elizabeth T, Wilkens Alisha B, Bhoj Elizabeth J, Guan Qiaoning, Dulik Matthew C, Conlin Laura K, Abou Tayoun Ahmad N, Luo Minjie, Wu Chao, Cao Kajia, Sarmady Mahdi, Bedoukian Emma C, Tarpinian Jennifer, Medne Livija, Skraban Cara M, Deardorff Matthew A, Krantz Ian D, Krock Bryan L, Santani Avni B, The Journal of Molecular Diagnostics 21(1): 38-48, 2019, PMID:30577886

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The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event.

Correll-Tash Sarah, Conlin Laura, Mininger Beth A, Lilley Brenna, Mennuti Michael T, Emanuel Beverly S, Cytogenetic and Genome Research 156(4): 185-190, 2018, PMID:30566958

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Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.

Carson Jason C, Hoffner Lori, Conlin Laura, Parks W Tony, Fisher Rosemary A, Spinner Nancy, Yatsenko Svetlana A, Bonadio Jeffrey, Surti Urvashi, American Journal of Medical Genetics. Part A 176(12): 2720-2732, 2018, PMID:30302900

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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart M Ragan, Biesecker Barbara B, Blout Carrie L, Christensen Kurt D, Amendola Laura M, Bergstrom Katie L, Biswas Sawona, Bowling Kevin M, Brothers Kyle B, Conlin Laura K, Cooper Greg M, Dulik Matthew C, East Kelly M, Everett Jessica N, Finnila Candice R, Ghazani Arezou A, Gilmore Marian J, Goddard Katrina A B, Jarvik Gail P, Johnston Jennifer J, Kauffman Tia L, Kelley Whitley V, Krier Joel B, Lewis Katie L, McGuire Amy L, McMullen Carmit, Ou Jeffrey, Plon Sharon E, Rehm Heidi L, Richards C Sue, Romasko Edward J, Miren Sagardia Ane, Spinner Nancy B, Thompson Michelle L, Turbitt Erin, Vassy Jason L, Wilfond Benjamin S, Veenstra David L, Berg Jonathan S, Green Robert C, Biesecker Leslie G, Hindorff Lucia A, Genetics in Medicine, 2018, PMID:30287922

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Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.

Porter Kathryn M, Kauffman Tia L, Koenig Barbara A, Lewis Katie L, Rehm Heidi L, Richards Carolyn Sue, Strande Natasha T, Tabor Holly K, Wolf Susan M, Yang Yaping, Amendola Laura M, Azzariti Danielle R, Berg Jonathan S, Bergstrom Katie, Biesecker Leslie G, Biswas Sawona, Bowling Kevin M, Chung Wendy K, Clayton Ellen W, Conlin Laura K, Cooper Gregory M, Dulik Matthew C, Garraway Levi A, Ghazani Arezou A, Green Robert C, Hiatt Susan M, Jamal Seema M, Jarvik Gail P, Goddard Katrina A B, Wilfond Benjamin S, Molecular Genetics & Genomic Medicine, 2018, PMID:30133189

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Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Waggoner Darrel, Wain Karen E, Dubuc Adrian M, Conlin Laura, Hickey Scott E, Lamb Allen N, Martin Christa Lese, Morton Cynthia C, Rasmussen Kristen, Schuette Jane L, Schwartz Stuart, Miller David T, Genetics in Medicine, 2018, PMID:29915380

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Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

Gibson Christopher E, Boodhansingh Kara E, Li Changhong, Conlin Laura, Chen Pan, Becker Susan A, Bhatti Tricia, Bamba Vaneeta, Adzick N Scott, De Leon Diva D, Ganguly Arupa, Stanley Charles A, Hormone Research in Paediatrics, 2018, PMID:29902804

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard Sarah, Biswas Sawona, Li Mindy H, Jayaraman Vijayakumar, Slack Ian, Romasko Edward J, Sasson Ariella, Brunton Joshua, Rajagopalan Ramakrishnan, Sarmady Mahdi, Abrudan Jenica L, Jairam Sowmya, DeChene Elizabeth T, Ying Xiahoan, Choi Jiwon, Wilkens Alisha, Raible Sarah E, Scarano Maria I, Santani Avni, Pennington Jeffrey W, Luo Minjie, Conlin Laura K, Devkota Batsal, Dulik Matthew C, Spinner Nancy B, Krantz Ian D, Genetics in Medicine, 2018, PMID:29907799

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AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Guan Qiaoning, Balciuniene Jorune, Cao Kajia, Fan Zhiqian, Biswas Sawona, Wilkens Alisha, Gallo Daniel J, Bedoukian Emma, Tarpinian Jennifer, Jayaraman Pushkala, Sarmady Mahdi, Dulik Matthew, Santani Avni, Spinner Nancy, Abou Tayoun Ahmad N, Krantz Ian D, Conlin Laura K, Luo Minjie, Genetics in Medicine, 2018, PMID:29595809

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