Laura K Conlin, PhD

faculty photo
Assistant Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine

Contact information
The Children's Hospital of Philadelphia
716C Abramson Research Building
34th and Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-7885
Education:
BS (Chemistry with a minor in Biological Sciences)
Carnegie Mellon University, 2000.
PhD (Genetics and Gene Regulation)
University of Pennsylvania, 2007.
Permanent link
 
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Selected Publications

Iwata-Otsubo Aiko, Ritter Alyssa L, Weckselbatt Brooke, Ryan Nicole R, Burgess David, Conlin Laura K, Izumi Kosuke: DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. American Journal of Medical Genetics. Part A 176(1): 241-245, Jan 2018.

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: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genetics in Medicine Oct 2017 Notes: CORRIGENDUM: PMID:29419820

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: Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurology 74(10): 1228-36, Oct 2017.

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: Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. American Journal of Hematology Sep 2017.

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: CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues. American Journal of Medical Genetics. Part A 173(8): 2101-07, Aug 2017.

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: Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurology Genetics 3(1): e130, Feb 2017.

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: A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genetics in Medicine: Journal of the American College of Medical Genetics(19), 575-82, Aug 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.

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 1067-76(98): 247, June 2016.

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.

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Last updated: 03/22/2018
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