Laura K Conlin, PhD
Laura K Conlin, PhD
Assistant Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine
Contact information
1007B Abramson Research Building
The Children's Hospital of Philadelphia
34th and Civic Center Blvd
Philadelphia, PA 19104
The Children's Hospital of Philadelphia
34th and Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-7885
Email:
conlin@mail.med.upenn.edu
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.
Permanent linkBS (Chemistry with a minor in Biological Sciences)
Carnegie Mellon University, 2000.
PhD (Genetics and Gene Regulation)
University of Pennsylvania, 2007.
Selected Publications
Kalish Jennifer M, Conlin Laura K, Mostoufi-Moab Sogol, Wilkens Alisha B, Mulchandani Surabhi, Zelley Kristin, Kowalski Megan, Bhatti Tricia R, Russo Pierre, Mattei Peter, Mackenzie William G, Livolsi Virginia, Nichols Kim E, Biegel Jaclyn A, Spinner Nancy B, Deardorff Matthew A: Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. American journal of medical genetics. Part A 161(5): 993-1001, May 2013.Akizu Naiara, Shembesh Nuri M, Ben-Omran Tawfeg, Bastaki Laila, Al-Tawari Asma, Zaki Maha S, Koul Roshan, Spencer Emily, Rosti Rasim Ozgur, Scott Eric, Nickerson Elizabeth, Gabriel Stacey, da Gente Gilberto, Li Jiang, Deardorff Matthew A, Conlin Laura K, Horton Margaret A, Zackai Elaine H, Sherr Elliott H, Gleeson Joseph G: Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American journal of human genetics 92(3): 392-400, Mar 2013.
Izumi Kosuke, Santani Avni B, Deardorff Matthew A, Feret Holly A, Tischler Tanya, Thiel Brian D, Mulchandani Surabhi, Stolle Catherine A, Spinner Nancy B, Zackai Elaine H, Conlin Laura K: Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. American journal of medical genetics. Part A 161A(1): 166-71, Jan 2013.
Spinner, NB, Conlin, LK, Mulchandani S, and Emanuel BS: Deletions and Other Abnormalities of the Autosomes. Principles and Practice of Medical Genetics. Sixth Edition. Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H (eds.). Churchill Livingstone, 2013.
Mulchandani S, Bhoj E, Thiel B, Krantz I, Zackai E, Spinner N, Conlin L.: “Maternal UPD 20 syndrome.” American College of Medical Genetics and Genomics 2013, Phoenix, AZ. 2013.
Kalish J, Conlin L, Snider K, Bhatti T, Ganguly A, Stanley C, Palladino A, Deardorff M.: “The Spectrum of Hyperinsulinism in Mosaic Beckwith-Wiedemann Syndrome: Dissection of 11p15 Paternal Uniparental Isodisomy.” American College of Medical Genetics and Genomics 2013, Phoenix, AZ. 2013.
DeChene E, Mulchandani S, Slack I, Dulik M, Bernhardt B, Conlin L, Izumi K, Noon S, Pyeritz R, Santani A, Stolle C, Wilkens A, Krantz I, Spinner N.: “A Framework for Incidental Findings from Exome Sequencing in the Pediatric Setting.” American College of Medical Genetics and Genomics 2013, Phoenix, AZ. 2013.
Conlin Laura K, Kaur Maninder, Izumi Kosuke, Campbell Lindsey, Wilkens Alisha, Clark Dinah, Deardorff Matthew A, Zackai Elaine H, Pallister Phillip, Hakonarson Hakon, Spinner Nancy B, Krantz Ian D: Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. American journal of medical genetics. Part A 158A(12): 3046-53, Dec 2012.
Izumi Kosuke, Conlin Laura K, Berrodin Donna, Fincher Christopher, Wilkens Alisha, Haldeman-Englert Chad, Saitta Sulagna C, Zackai Elaine H, Spinner Nancy B, Krantz Ian D: Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. American journal of medical genetics. Part A 158A(12): 3033-45, Dec 2012.
DeScipio Cheryl, Conlin Laura, Rosenfeld Jill, Tepperberg James, Pasion Romela, Patel Ankita, McDonald Marie T, Aradhya Swaroop, Ho Darlene, Goldstein Jennifer, McGuire Marianne, Mulchandani Surabhi, Medne Livija, Rupps Rosemarie, Serrano Alvaro H, Thorland Erik C, Tsai Anne C-H, Hilhorst-Hofstee Yvonne, Ruivenkamp Claudia A L, Van Esch Hilde, Addor Marie-Claude, Martinet Danielle, Mason Thornton B A, Clark Dinah, Spinner Nancy B, Krantz Ian D: Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. American journal of medical genetics. Part A 158A(9): 2152-61, Sep 2012.