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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

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 : official journal of the American College of Medical Genetics Nov 2016.

Bhoj Elizabeth J, Yu Zhenming, Guan Qiaoning, Ahrens-Nicklas Rebecca, Cao Kajia, Luo Minjie, Tischler Tanya, Deardorff Matthew A, Zackai Elaine, Santani Avni B: Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Genetics in medicine : official journal of the American College of Medical Genetics Oct 2016.

Buchert Rebecca, Nesbitt Addie I, Tawamie Hasan, Krantz Ian D, Medne Livija, Helbig Ingo, Matalon Dena R, Reis André, Santani Avni, Sticht Heinrich, Abou Jamra Rami: SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. Orphanet journal of rare diseases 11(1): 130, Sep 2016.

Mandelker Diana, Schmidt Ryan J, Ankala Arunkanth, McDonald Gibson Kristin, Bowser Mark, Sharma Himanshu, Duffy Elizabeth, Hegde Madhuri, Santani Avni, Lebo Matthew, Funke Birgit: Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Genetics in medicine : official journal of the American College of Medical Genetics May 2016.

Wenger Tara L, Dahl John, Bhoj Elizabeth J, Rosen Anna, McDonald-McGinn Donna, Zackai Elaine, Jacobs Ian, Heike Carrie L, Hing Anne, Santani Avni, Inglis Andrew F, Sie Kathleen C Y, Cunningham Michael, Perkins Jonathan: Tracheal cartilaginous sleeves in children with syndromic craniosynostosis. Genetics in medicine : official journal of the American College of Medical Genetics May 2016.

Baudhuin Linnea M, Funke Birgit H, Bean Lora H, Deignan Joshua L, Hofherr Sean, Miller David T, Nagan Narasimhan, Santani Avni, Saunders Carol: Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clinical chemistry Feb 2016.

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. 164:2557-2566, 2014. American journal of medical genetics. Part A 167(7): 1682-3, Jul 2015.

Nesbitt Addie, Bhoj Elizabeth J, McDonald Gibson Kristin, Yu Zhenming, Denenberg Elizabeth, Sarmady Mahdi, Tischler Tanya, Cao Kajia, Dubbs Holly, Zackai Elaine H, Santani Avni: Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. American journal of medical genetics. Part A 167(11): 2548-54, Jun 2015 Notes: doi: 10.1002/ajmg.a.37221.

Rehm Heidi L, Berg Jonathan S, Brooks Lisa D, Bustamante Carlos D, Evans James P, Landrum Melissa J, Ledbetter David H, Maglott Donna R, Martin Christa Lese, Nussbaum Robert L, Plon Sharon E, Ramos Erin M, Sherry Stephen T, Watson Michael S: ClinGen--the Clinical Genome Resource. The New England journal of medicine 372(23): 2235-42, Jun 2015.

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.

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Last updated: 01/11/2017
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