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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

Amendola Laura M, Dorschner Michael O, Robertson Peggy D, Salama Joseph S, Hart Ragan, Shirts Brian H, Murray Mitzi L, Tokita Mari J, Gallego Carlos J, Kim Daniel Seung, Bennett James T, Crosslin David R, Ranchalis Jane, Jones Kelly L, Rosenthal Elisabeth A, Jarvik Ella R, Itsara Andy, Turner Emily H, Herman Daniel S, Schleit Jennifer, Burt Amber, Jamal Seema M, Abrudan Jenica L, Johnson Andrew D, Conlin Laura K, Dulik Matthew C, Santani Avni, Metterville Danielle R, Kelly Melissa, Foreman Ann Katherine M, Lee Kristy, Taylor Kent D, Guo Xiuqing, Crooks Kristy, Kiedrowski Lesli A, Raffel Leslie J, Gordon Ora, Machini Kalotina, Desnick Robert J, Biesecker Leslie G, Lubitz Steven A, Mulchandani Surabhi, Cooper Greg M, Joffe Steven, Richards C Sue, Yang Yaoping, Rotter Jerome I, Rich Stephen S, O'Donnell Christopher J, Berg Jonathan S, Spinner Nancy B, Evans James P, Fullerton Stephanie M, Leppig Kathleen A, Bennett Robin L, Bird Thomas, Sybert Virginia P, Grady William M, Tabor Holly K, Kim Jerry H, Bamshad Michael J, Wilfond Benjamin, Motulsky Arno G, Scott C Ronald, Pritchard Colin C, Walsh Tom D, Burke Wylie, Raskind Wendy H, Byers Peter, Hisama Fuki M, Rehm Heidi, Nickerson Debbie A, Jarvik Gail P: Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome research 25(3): 305-15, Mar 2015.

Tham Emma, Lindstrand Anna, Santani Avni, Malmgren Helena, Nesbitt Addie, Dubbs Holly A, Zackai Elaine H, Parker Michael J, Millan Francisca, Rosenbaum Kenneth, Wilson Golder N, Nordgren Ann: Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features. American journal of human genetics 96(3): 507-13, Mar 2015.

Gaynor J William, Kim Daniel Seung, Arrington Cammon B, Atz Andrew M, Bellinger David C, Burt Amber A, Ghanayem Nancy S, Jacobs Jeffery P, Lee Teresa M, Lewis Alan B, Mahle William T, Marino Bradley S, Miller Stephen G, Newburger Jane W, Pizarro Christian, Ravishankar Chitra, Santani Avni B, Wilder Nicole S, Jarvik Gail P, Mital Seema, Russell Mark W: Validation of association of the apolipoprotein E ε2 allele with neurodevelopmental dysfunction after cardiac surgery in neonates and infants. The Journal of thoracic and cardiovascular surgery 148(6): 2560-6, Dec 2014.

Wenger Tara L, Harr Margaret, Ricciardi Stefania, Bhoj Elizabeth, Santani Avni, Adam Margaret P, Barnett Sarah S, Ganetzky Rebecca, McDonald-McGinn Donna M, Battaglia Domenica, Bigoni Stefania, Selicorni Angelo, Sorge Giovanni, Monica Matteo Della, Mari Francesca, Andreucci Elena, Romano Silvia, Cocchi Guido, Savasta Salvatore, Malbora Baris, Marangi Giuseppe, Garavelli Livia, Zollino Marcella, Zackai Elaine H: CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. American journal of medical genetics. Part A 164A(10): 2557-66, Oct 2014.

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.

Jarvik Gail P, Amendola Laura M, Berg Jonathan S, Brothers Kyle, Clayton Ellen W, Chung Wendy, Evans Barbara J, Evans James P, Fullerton Stephanie M, Gallego Carlos J, Garrison Nanibaa' A, Gray Stacy W, Holm Ingrid A, Kullo Iftikhar J, Lehmann Lisa Soleymani, McCarty Cathy, Prows Cynthia A, Rehm Heidi L, Sharp Richard R, Salama Joseph, Sanderson Saskia, Van Driest Sara L, Williams Marc S, Wolf Susan M, Wolf Wendy A, Burke Wylie: Return of genomic results to research participants: the floor, the ceiling, and the choices in between. American journal of human genetics 94(6): 818-26, Jun 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.

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.

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Last updated: 03/10/2015
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