Avni B. Santani, PhD Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467) Background Avni Santani, PhD, is the scientific director and has over seven years of experience in molecular diagnostic testing. She obtained her PhD at Texas A&M University and her clinical laboratory training in genetics at The Children’s hospital of Philadelphia. Dr. Santani holds specialty board certifications in Clinical Molecular Genetics and Clinical Cytogenetics. Her primary focus is on new test development and adoption of next generation sequencing technologies for diagnostic testing. Dr. Santani has experience in developing diagnostic tests for over 100 disease genes implicated in disorders such as hearing loss, epilepsy, Noonan syndrome, Rett syndrome, paraganglioma, neuroblastoma and others. Her training and experience make her an expert in a wide variety of genetic disorders, molecular biology applications and genomics. Education and Training FellowshipClinical Cytogenetics - Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia Clinical Molecular Genetics - Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia Additional TrainingPhD, Genetics, Texas A&M University Undergraduate DegreeBS in Microbiology and Biochemistry - University of Mumbai, Mumbai, India Graduate DegreePhD in Genetics - University of Texas A & M, College Station, TX MSc in Medical Molecular Genetics - University of Aberdeen, Aberdeen, Scotland Titles and Academic Titles Scientific Director, Molecular Genetics LabAssistant Professor of Clinical Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine Publications Papers2016 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. 2015 Li Mindy H, Abrudan Jenica L, Dulik Matthew C, Sasson Ariella, Brunton Joshua, Jayaraman Vijayakumar, Dugan Noreen, Haley Danielle, Rajagopalan Ramakrishnan, Biswas Sawona, Sarmady Mahdi, DeChene Elizabeth T, Deardorff Matthew A, Wilkens Alisha, Noon Sarah E, Scarano Maria I, Santani Avni B, White Peter S, Pennington Jeffrey, Conlin Laura K, Spinner Nancy B, Krantz Ian D, Vetter Victoria L: Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Human genomics 9: 15, 2015. 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. 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. 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. 2014 Yu Zhenming, Cao Kajia, Tischler Tanya, Stolle Catherine A, Santani Avni B: Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment. PloS one 9(7): e103491, 2014. 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. 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 Notes: doi: 10.1016/j.ajhg.2014.04.009. Gail P. Jarvik,1,2,* Laura M. Amendola,1 Jonathan S. Berg,3 Kyle Brothers,4,5 Ellen W. Clayton,6Wendy Chung,7 Barbara J. Evans,8 James P. Evans,3 Stephanie M. Fullerton,9 Carlos J. Gallego,1Nanibaa' A. Garrison,6 Stacy W. Gray,10,11 Ingrid A. Holm,12,13,14 Iftikhar J. Kullo,15Lisa Soleymani Lehmann,10 Cathy McCarty,16 Cynthia A. Prows,17 Heidi L. Rehm,10 Richard R. Sharp,18Joseph Salama,1 Saskia Sanderson,19 Sara L. Van Driest,6 Marc S. Williams,20 Susan M. Wolf,21Wendy 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(6): 818, June 2014. Posters and PresentationsLectures by Invitation 2016 Santani AB. Complexities in analysis of exome data in pediatric disorders. Biomarkers and Diagnostics World Congress; 2016 May; Philadelphia, PA. Santani AB. The utility of exome sequencing in providing deep coverage of disease relevant targets. The Molecular Medicine Tri Conference; 2016 Mar; San Francisco, CA. Santani AB. Compliance for clinical next generation sequencing based tests. Agilent Webinar; 2016 Feb. 2015 Santani AB. Validation and implementation of whole exome sequencing [lecture]. Illumina User Group Meeting; 2015 Nov; Philadelphia, PA. Santani AB. Exome Sequencing and Compliance [lecture]. Agilent User Group Symposium; 2015 Oct; New York, NY. Santani AB. Assay Selection and Validation [invited webinar]. Association of Molecular Pathologists; 2015 Aug. Santani AB. Exome Sequencing in pediatrics [lecture]. Cambridge Health Institute; 2015 Aug; Washington, DC. Santani AB. Highlighting the challenges associated with exome sequencing [lecture]. Agilent User Symposium; 2015 May; New York, NY. Santani AB. Exome Sequencing in pediatrics [lecture]. University of Denver; 2015 Mar; Denver, CO. 2014 Santani AB. Clinical genomics - opportunities and challenges [lecture]. McDermott Center for Human Growth and Development, UT Southwestern Medical Center; 2014 Aug; Dallas, TX. Santani AB. Implementation of next generation sequencing in clinical diagnostics: challenges and opportunities [lecture]. Dept of Pediatrics, University of Padova; 2014 Jun; Padova, Italy. Santani AB. Integration of NGS data into clinical diagnostics: interpretation, software pipelines and compliance [invited speaker for satellite symposium]. European Society of Human Genetics; 2014 Jun; Cartagenia, Italy. Awards and Honors 2015, Innovator of the Year Award (Philadelphia Business Journal) 2007, Best Poster Award, Stokes Institute of Research 2005, Fisher Medical Research Excellence Award, College of Veterinary Medicine, Texas A&M 2004, Noel Jorgensen Travel Fellowship, Plant and Animal Genome XII Conference 2004, Outstanding Platform Presentation Award, Genetics Research Competition 2004, Graduate Student Research and Presentation Grant 2004, Graduate Student Travel Grant, Department of Genetics 2004, Outstanding Platform Presentation Award, Texas Genetics Society 2003, NACACGM Student Travel Award 2003, Outstanding Platform Presentation Award, Texas Genetics Society 2002, Outstanding Platform Presentation Award, Texas Genetics Society 2001-2002, Regents Fellowship for Academic Excellence, Texas A&M University Editorial and Academic Positions Editorial Positions 2014-present, Genetics in Medicine 2014-present, Genetics Research Academic and Institutional Committees 2015-2016, Member Search Committee (Molecular Pathologist - DGD) 2014-2015, Member Search Committee, Immunogenetics Asst Director 2014, Member, Search Committee, Genetics Faculty, Division of Genetics 2014-present, Member, American Board of Medical Genetics Fellowship Committee at CHOP 2013-present, Member, Division of Genomic Diagnostics, Executive Committee 2013-2014, Member, Outreach Advisory Committee Leadership and Memberships Memberships in Professional Organizations International 2015-present, Teaching and Education Committee- American Association of Molecular Pathologists - 2015-2017, Teaching and Education Committee Member National 2014-present, American Association of Molecular Pathologists - 2015-2017, Teaching and Education Committee Member 2014-2015, Association for Molecular Pathology - Member, Membership Affairs Committee 2007-present, American Board of Medical Genetics 2006-present, American Society of Human Genetics Patient Experience Ratings About the Patient Experience Rating System The Patient Experience Rating is an average of all responses to the care provider related questions shown below from our nationally-recognized Press Ganey Patient Satisfaction Survey. Patients that are treated in outpatient or hospital environments may receive different surveys, and the volume of responses will vary by question. Responses are measured on a scale of 1 to 5 with 5 being the best score. The comments are submitted by patients and families and reflect their views and opinions. The comments are not endorsed by and do not reflect the views of Children’s Hospital of Philadelphia.