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Avni B. Santani, Ph.D.

Avni B. Santani, Ph.D.

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Assistant Professor of Clinical Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine

Contact information
The Children's Hospital of Philadelphia
Department of Pathology and Laboratory Medicine
Abramson Research Center - 716H
34th Street and Civic Center Boulevard
Philadelphia, PA 19104
Office: 267-426-5535
Fax: 215-590-2156
Education:
B.S. (Microbiology & Biochemistry)
University of Mumbai, 1998.
M.Sc. (Medical Molecular Genetics)
University of Aberdeen, 2001.
Ph.D. (Genetics)
University of Texas A&M, 2004.
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Selected Publications

Gail P. Jarvik,1,2,* Laura M. Amendola,1 Jonathan S. Berg,3 Kyle Brothers,4,5 Ellen W. Clayton,6 Wendy Chung,7 Barbara J. Evans,8 James P. Evans,3 Stephanie M. Fullerton,9 Carlos J. Gallego,1 Nanibaa’ A. Garrison,6 Stacy W. Gray,10,11 Ingrid A. Holm,12,13,14 Iftikhar J. Kullo,15 Lisa Soleymani Lehmann,10 Cathy McCarty,16 Cynthia A. Prows,17 Heidi L. Rehm,10 Richard R. Sharp,18 Joseph Salama,1 Saskia Sanderson,19 Sara L. Van Driest,6 Marc S. Williams,20 Susan M. Wolf,21 Wendy A. Wolf,12,14 eMERGE Act-ROR Committee and CERC Committee, CSER Act-ROR Working Group, and Wylie Burke9: Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between. The American Journal of Human Genetics 94: 818, June 2014.

Diana Mandelker1, Arun Ankala3, Elizabeth Duffy2, Rimma Shakhbatyan2, Kristin Gibson4, Sami Amr2, Heidi Rehm2, Avni Santani4, Matthew Lebo1,2, Madhuri Hedge3, Birgit Funke1,2.: Towards comprehensive clinical exome sequencing: Inclusive testing of disease genes with high homology. American College of Medical Genetics Conference 2014.

White P, Italia M, Sarmady M, Sasson A, Ruth B, Miller J, Masino A, Naegely D, Perin JC, Karavite D, Leipzig J, Michel J, Wilkens A, Dulik M, Abrudan J, Grundmeier R, Krantz I, Stolle C, Santani A, Spinner A, Pennington J: Bedside to beside: Seamless collection, analysis, and delivery of genomic data for diagnostics and research at enterprise level. American College of Medical Genetics Conference 2014.

Santani A, Cao K, Gowrishankar S, da Silva C, Mandelkar D, Sasson A, Sarmady M, yu Z, Tischler T, Shakhbatyan R, S. Tinker S , ChurchD, Funke B, Hegde M: Finishing the exome: The Medical Exome Project (PLATFORM TALK). American College of Medical Genetics Conference 2014.

Dorschner M, Wagle, Buhay C, Carnerio M, McGee S, Sasson A, Salisbery J, Leshchiner I, Gowrisankar S, Wilhem K, Santani A, Muzny D, Sarmady M, Rehm H, Garraway L, Nickerson D: Identification of poorly covered targets in clinical sequence data. American College of Medical Genetics Conference 2014.

Hegde M, Berg J, Bustamante C, Das S, Ferber M, Funke B, Greenblat M, Kulkarni S, Lyon E, Maglott D, Mao R, Metterville D, Plon S, Rehm H, Santani A, Willems P, Bale S, on behalf of the International Collaboration for Clinical Genomics : Update on variant assessment and submission to NCBI ClinVar from ICCG Sequence variant workgroup. American College of Medical Genetics 2014.

K Cao, KM Gibson, Z Yu, T Tischler, M Sarmady, WV Patrick, CA Stolle, AB Santani: Establishing Reliable Performance Characteristics for a Clinical Whole Exome Sequencing (WES) Test. American College of Medical Genetics Meeting 2014.

Yu Z, Tischler T, Sasson A, Perin J, Sarmady M, Warren P, White P, Stolle C, Santani A: Development and Validation of a diagnostic test for five distinct genetic disorders with heterogeneous genetic etiology using next generation sequencing (PLATFORM TALK). Association of Molecular Pathology Annual Meeting Nov 2013.

Berg JS1, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group.: Processes and preliminary outputs for identification of actionable genes as incidental findings in genome sequence data in Clinical Sequencing Exploratory Research Consortium. Genet Med 15(11), Nov 2013.

Yu Z, Tischler T, Sasson A, Perin J, Sarmady M, Warren P, White P, Stolle C, Santani A: A quality control program for next generation sequencing assay. American Society of Human Genetics Nov 2013.

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Last updated: 06/11/2014
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