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
Graduate Student Travel Grant
Department of Genetics, 2004
Graduate Student Research and Presentation Grant, 2004
Outstanding Platform Presentation Award
Genetics Research Competition, 2004
Outstanding Platform Presentation Award
Texas Genetics Society, 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
"Outstanding Contributions For The Prevention of Birth Defects", Beijing Genomics Institute and National Gene Bank of China., 2018
"Outstanding Contributions For The Prevention of Birth Defects", Beijing Genomics Institute and National Gene Bank of China., 2018

Memberships and Professional Organizations

American Society of Human Genetics
American College of Medical Genetics National American Board of Medical Genetics 2007
American Board of Medical Genetics, Maintenance of Certification Question Writing Group 2011-2012, 2006 - Present
Association for Molecular Pathology, 2013 - present
College of American Pathologists, 2014 - Present
NIH Study Section, Small Business Innovation Research and Small Business Technology Transfer, 2017 - Present

Selected Publications

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian E C, Bhoj E J, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans L J, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green A K, Guerrot A M, Heron D, Isidor B, Keena B A, Krock B L, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate Y A, Ziegler A, Manouvrier-Hanu S, Kalscheuer V M, Gerard B, Ghoumid Jamal, Neurogenetics, 2018, PMID:29511999

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

Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Fliedner A, Gregor A, Sticht H, Zweier C, Am J Hum Genet 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 S, van Woerden GM, Besnard T, Proietti OM, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla Øystein L, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CA L, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers L, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S, Am J Hum Genet 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 PS, Pennington J, Lou M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani S, Genet Med, 2017

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

Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Kleefstra T, Robertson SP, Santani A, van Gassen Koen LI, Deardorff MA, Am J Hum Genet 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 NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni M, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS, Am J Hum Genet 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 A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE, Arch Pathol Lab Med 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, Phoenix, AZ, 2017

Clinical Exome Re-analysis: Keeping up with Gene Discovery

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