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

American Board of Medical Genetics Fellowship in Clinical Molecular Genetics, Department of Pathology and Laboratory Medicine,
The Children's Hospital of Philadelphia, Philadelphia, PA, 2005-2007
American Board of Medical Genetics Fellowship in Clinical Cytogenetics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, 2008-2009

Awards and Honors

Regents Fellowship for Academic Excellence
Texas A&M University, 2001-2002
Outstanding Platform Presentation Award
Texas Genetics Society, 2002
Outstanding Platform Presentation Award
Texas Genetics Society, 2003
NACACGM Student Travel Award, 2003
Outstanding Platform Presentation Award
Texas Genetics Society, 2004
Graduate Student Research and Presentation Grant, 2004
Graduate Student Travel Grant
Department of Genetics, 2004
Outstanding Platform Presentation Award
Genetics Research Competition, 2004
Noel Jorgensen Travel Fellowship
Plant and Animal Genome XII Conference, 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
Association for Molecular Pathology, 2013 - present
College of American Pathologists, 2014 - Present
American College of Medical Genetics, 2017 - Present
NIH Study Section, Small Business Innovation Research and Small Business Technology Transfer, 2017 - Present

Selected Publications

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Straub Jonas, Konrad Enrico D H, Grüner Johanna, Toutain Annick, Bok Levinus A, Cho Megan T, Crawford Heather P, Dubbs Holly, Douglas Ganka, Jobling Rebekah, Johnson Diana, Krock Bryan, Mikati Mohamad A, Nesbitt Addie, Nicolai Joost, Phillips Meredith, Poduri Annapurna, Ortiz-Gonzalez Xilma R, Powis Zöe, Santani Avni, Smith Lacey, Stegmann Alexander P A, Stumpel Constance, Vreeburg Maaike, Fliedner Anna, Gregor Anne, Sticht Heinrich, Zweier Christiane, American Journal of Human Genetics 102(1): 44-57, 2017, PMID:29276004

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Characterizing Reduced Coverage Regions through Comparison of Exome and Genome Sequencing Data across 10 Centers

Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N, Genet Med, 2017, PMID:29144510

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry Sébastien, van Woerden Geeske M, Besnard Thomas, Proietti Onori Martina, Latypova Xénia, Towne Meghan C, Cho Megan T, Prescott Trine E, Ploeg Melissa A, Sanders Stephan, Stessman Holly A F, Pujol Aurora, Distel Ben, Robak Laurie A, Bernstein Jonathan A, Denommé-Pichon Anne-Sophie, Lesca Gaëtan, Sellars Elizabeth A, Berg Jonathan, Carré Wilfrid, Busk Øyvind Løvold, van Bon Bregje W M, Waugh Jeff L, Deardorff Matthew, Hoganson George E, Bosanko Katherine B, Johnson Diana S, Dabir Tabib, Holla Øystein Lunde, Sarkar Ajoy, Tveten Kristian, de Bellescize Julitta, Braathen Geir J, Terhal Paulien A, Grange Dorothy K, van Haeringen Arie, Lam Christina, Mirzaa Ghayda, Burton Jennifer, Bhoj Elizabeth J, Douglas Jessica, Santani Avni B, Nesbitt Addie I, Helbig Katherine L, Andrews Marisa V, Begtrup Amber, Tang Sha, van Gassen Koen L I, Juusola Jane, Foss Kimberly, Enns Gregory M, Moog Ute, Hinderhofer Katrin, Paramasivam Nagarajan, Lincoln Sharyn, Kusako Brandon H, Lindenbaum Pierre, Charpentier Eric, Nowak Catherine B, Cherot Elouan, Simonet Thomas, Ruivenkamp Claudia A L, Hahn Sihoun, Brownstein Catherine A, Xia Fan, Schmitt Sébastien, Deb Wallid, Bonneau Dominique, Nizon Mathilde, Quinquis Delphine, Chelly Jamel, Rudolf Gabrielle, Sanlaville Damien, Parent Philippe, Gilbert-Dussardier Brigitte, Toutain Annick, Sutton Vernon R, Thies Jenny, Peart-Vissers Lisenka E L M, Boisseau Pierre, Vincent Marie, Grabrucker Andreas M, Dubourg Christèle, Tan Wen-Hann, Verbeek Nienke E, Granzow Martin, Santen Gijs W E, Shendure Jay, Isidor Bertrand, Pasquier Laurent, Redon Richard, Yang Yaping, State Matthew W, Kleefstra Tjitske, Cogné Benjamin, Petrovski Slavé, Retterer Kyle, Eichler Evan E, Rosenfeld Jill A, Agrawal Pankaj B, Bézieau Stéphane, Odent Sylvie, Elgersma Ype, Mercier Sandra, American Journal of Human Genetics 101(5): 768-788, 2017, PMID:29100089

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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

McDonald Gibson, K., Nesbitt, A., Cao, K., Yu, Z., Denenberg, E., DeChene, E., Guan, Q., Bhoj, E., Zhou, X., Zhang, B., Wu, C., Dubbs, H., Wilkens, A., Medne, L., Bedoukian, E., White, P.S., Pennington, J., Lou, M., Conlin, L., Monos, D., Sarmady, M., Marsh, E., Zackai, E., Spinner, N., Krantz, I., Deardorff, M., Santani, S., Genetics in Medicine, 2017

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Skraban Cara M, Wells Constance F, Markose Preetha, Cho Megan T, Nesbitt Addie I, Au P Y Billie, Begtrup Amber, Bernat John A, Bird Lynne M, Cao Kajia, de Brouwer Arjan P M, Denenberg Elizabeth H, Douglas Ganka, Gibson Kristin M, Grand Katheryn, Goldenberg Alice, Innes A Micheil, Juusola Jane, Kempers Marlies, Kinning Esther, Markie David M, Owens Martina M, Payne Katelyn, Person Richard, Pfundt Rolph, Stocco Amber, Turner Claire L S, Verbeek Nienke E, Walsh Laurence E, Warner Taylor C, Wheeler Patricia G, Wieczorek Dagmar, Wilkens Alisha B, Zonneveld-Huijssoon Evelien, Kleefstra Tjitske, Robertson Stephen P, Santani Avni, van Gassen Koen L I, Deardorff Matthew A, American Journal of Human Genetics 101(1): 139-148, 2017, PMID:28686853

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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande Natasha T, Riggs Erin Rooney, Buchanan Adam H, Ceyhan-Birsoy Ozge, DiStefano Marina, Dwight Selina S, Goldstein Jenny, Ghosh Rajarshi, Seifert Bryce A, Sneddon Tam P, Wright Matt W, Milko Laura V, Cherry J Michael, Giovanni Monica A, Murray Michael F, O'Daniel Julianne M, Ramos Erin M, Santani Avni B, Scott Alan F, Plon Sharon E, Rehm Heidi L, Martin Christa L, Berg Jonathan S, American Journal of human Genetics 100(6): 895-906, 2017, PMID:28552198

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Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Santani Avni, Murrell Jill, Funke Birgit, Yu Zhenming, Hegde Madhuri, Mao Rong, Ferreira-Gonzalez Andrea, Voelkerding Karl V, Weck Karen E, Archives of Pathology & Laboratory Medicine 141(6): 787-797, 2017, PMID:28322587

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Patients with PTEN-like Clinical Presentation Identified to have Novel MTOR Gene Mutations

Tarpinian J, Skraban C, Yum S, Licht D, Li D, Santani A, Krock B, Medne L, Zackai E, Deardorff M, American College of Medical Genetics Annual Meeting, 2017

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Baker S, Krock B, Santani A, American College of Medical Genetics Annual Meeting, 2017

Clinical Exome Re-analysis: Keeping up with Gene Discovery

Baker S, Krock B, Santani A, American College of Medical Genetics Annual Meeting, 2017