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

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, 2017, PMID:28504353

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Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.

Ahrens-Nicklas Rebecca C, Umanah George K E, Sondheimer Neal, Deardorff Matthew A, Wilkens Alisha B, Conlin Laura K, Santani Avni B, Nesbitt Addie, Juulsola Jane, Ma Erica, Dawson Ted M, Dawson Valina L, Marsh Eric D, Neurology Genetics 3(1): e130, 2017, PMID:28180185

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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel Julianne M, McLaughlin Heather M, Amendola Laura M, Bale Sherri J, Berg Jonathan S, Bick David, Bowling Kevin M, Chao Elizabeth C, Chung Wendy K, Conlin Laura K, Cooper Gregory M, Das Soma, Deignan Joshua L, Dorschner Michael O, Evans James P, Ghazani Arezou A, Goddard Katrina A, Gornick Michele, Farwell Hagman Kelly D, Hambuch Tina, Hegde Madhuri, Hindorff Lucia A, Holm Ingrid A, Jarvik Gail P, Knight Johnson Amy, Mighion Lindsey, Morra Massimo, Plon Sharon E, Punj Sumit, Richards C Sue, Santani Avni, Shirts Brian H, Spinner Nancy B, Tang Sha, Weck Karen E, Wolf Susan M, Yang Yaping, Rehm Heidi L, Genetics in medicine : official journal of the American College of Medical Genetics, 2016, PMID:27811861

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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

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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

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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

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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

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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

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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

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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

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