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
International Standing Committee on Human Cytogenetic Nomenclature, 2019 - 2023
American Society of Human Genetics, 2019 - 2021

Web Links


Selected Publications

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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DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

Iwata-Otsubo Aiko, Ritter Alyssa L, Weckselbatt Brooke, Ryan Nicole R, Burgess David, Conlin Laura K, Izumi Kosuke, American Journal of Medical Genetics. Part A 176(1): 241-245, 2018, PMID:29130632

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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Gibson Kristin McDonald, Nesbitt Addie, Cao Kajia, Yu Zhenming, Denenberg Elizabeth, DeChene Elizabeth, Guan Qiaoning, Bhoj Elizabeth, Zhou Xiangdong, Zhang Bo, Wu Chao, Dubbs Holly, Wilkens Alisha, Medne Livija, Bedoukian Emma, White Peter S, Pennington Jeffrey, Luo Minjie, Conlin Laura, Monos Dimitri, Sarmady Mahdi, Marsh Eric, Zackai Elaine, Spinner Nancy, Krantz Ian, Deardorff Matt, Santani Avni, Genetics in Medicine, 2017, PMID:29389922

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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

de Kovel Carolien G F, Syrbe Steffen, Brilstra Eva H, Verbeek Nienke, Kerr Bronwyn, Dubbs Holly, Bayat Allan, Desai Sonal, Naidu Sakkubai, Srivastava Siddharth, Cagaylan Hande, Yis Uluc, Saunders Carol, Rook Martin, Plugge Susanna, Muhle Hiltrud, Afawi Zaid, Klein Karl-Martin, Jayaraman Vijayakumar, Rajagopalan Ramakrishnan, Goldberg Ethan, Marsh Eric, Kessler Sudha, Bergqvist Christina, Conlin Laura K, Krok Bryan L, Thiffault Isabelle, Pendziwiat Manuela, Helbig Ingo, Polster Tilman, Borggraefe Ingo, Lemke Johannes R, van den Boogaardt Marie-José, Møller Rikke S, Koeleman Bobby P C, JAMA Neurology 74(10): 1228-36, 2017, PMID:28806457

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Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

Romasko Edward J, Devkota Batsal, Biswas Sawona, Jayaraman Vijayakumar, Rajagopalan Ramakrishnan, Dulik Matthew C, Thom Christopher S, Choi Jiwon, Jairam Sowmya, Scarano Maria I, Krantz Ian D, Spinner Nancy B, Conlin Laura K, Lambert Michele P, American Journal of Hematology, 2017, PMID:28960434

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CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.

Luo Minjie, Fan Jinbo, Wenger Tara L, Harr Margaret H, Racobaldo Melissa, Mulchandani Surabhi, Dubbs Holly, Zackai Elaine H, Spinner Nancy B, Conlin Laura K, American Journal of Medical Genetics. Part A 173(8): 2101-07, 2017, PMID:28504353

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