PEOPLE

Avni B. Santani, PhD

Assistant Professor of Clinical Pathology and Laboratory Medicine
University of Pennsylvania Perelman School of Medicine

Contact InformationThe 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

Email: santani@email.chop.edu

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

Specialty Certification

Diplomate, American Board of Medical Genetics, Clinical Molecular Genetics, 2007
Diplomate, American Board of Medical Genetics, Clinical Cytogenetics, 2009
Diplomate, American Board of Medical Genetics, Clinical Molecular Genetics (Maintenance of Certification Exam), 2016

Postgraduate Training

Fellow in Clinical Molecular Genetics, Department of Pathology and Laboratory Medicine
The Children's Hospital of Philadelphia, 2005-2007
Fellow in Clinical Cytogenetics, Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia, 2008-2009

Awards and Honors

Regents Fellowship for Academic Excellence
Texas A&M University, 2001-2002
Outstanding Platform Presentation Award
Texas Genetics Society, 2002
NACACGM Student Travel Award, 2003
Outstanding Platform Presentation Award
Texas Genetics Society, 2003
Graduate Student Research and Presentation Grant, 2004
Graduate Student Travel Grant
Department of Genetics, 2004
Noel Jorgensen Travel Fellowship
Plant and Animal Genome XII Conference, 2004
Outstanding Platform Presentation Award
Genetics Research Competition, 2004
Outstanding Platform Presentation Award
Texas Genetics Society, 2004
Fisher Medical Research Excellence Award
College of Veterinary Medicine, Texas A&M, 2005
Best Poster Award
Stokes Institute of Research, 2007
Innovator of the Year Award (Philadelphia Business Journal), 2015

Memberships and Professional Organizations

American Society of Human Genetics, 2006 - Present
American Board of Medical Genetics, 2007 - Present
American Board of Medical Genetics, Maintenance of Certification Question Writing Group, 2011 - 2012
Member of the National College of American Pathologist Next Generation Sequencing Project Team, 2014 - Present
Member of the Membership Affairs Committee at the Association for Molecular Pathology, 2014 - 2015
Teaching and Education Committee- American Association of Molecular Pathologists, 2015 - present

Selected Publications

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

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, Genetics in medicine : official journal of the American College of Medical Genetics, 2016, PMID:27811861

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Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

Bhoj Elizabeth J, Yu Zhenming, Guan Qiaoning, Ahrens-Nicklas Rebecca, Cao Kajia, Luo Minjie, Tischler Tanya, Deardorff Matthew A, Zackai Elaine, Santani Avni B, Genetics in medicine : official journal of the American College of Medical Genetics, 2016, PMID:27763634

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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

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, Orphanet journal of rare diseases 11(1): 130, 2016, PMID:27683084

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Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

Mandelker Diana, Schmidt Ryan J, Ankala Arunkanth, McDonald Gibson Kristin, Bowser Mark, Sharma Himanshu, Duffy Elizabeth, Hegde Madhuri, Santani Avni, Lebo Matthew, Funke Birgit, Genetics in medicine : official journal of the American College of Medical Genetics, 2016, PMID:27228465

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Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

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, Genetics in medicine : official journal of the American College of Medical Genetics, 2016, PMID:27228464

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Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Baudhuin Linnea M, Funke Birgit H, Bean Lora H, Deignan Joshua L, Hofherr Sean, Miller David T, Nagan Narasimhan, Santani Avni, Saunders Carol, Clinical chemistry, 2016, PMID:26861553

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"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.

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, American journal of medical genetics. Part A 167(7): 1682-3, 2015, PMID:26097173

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Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

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, American journal of medical genetics. Part A 167(11): 2548-54, 2015, PMID:26111154

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ClinGen--the Clinical Genome Resource.

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, The New England journal of medicine 372(23): 2235-42, 2015, PMID:26014595

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Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

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, Genome research 25(3): 305-15, 2015, PMID:25637381

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