PEOPLE

Avni B. Santani, PhD

Associate Professor of Clinical Pathology and Laboratory Medicine
Perelman School of Medicine at the University of Pennsylvania

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 Research and Presentation Grant, 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
Graduate Student Travel Grant
Department of Genetics, 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
Veritas Genetics, 2017 - 2018
Clinical and Laboratory Standards Institute (CLSI), 2018 - Present

Selected Publications

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

Wu Chao, Devkota Batsal, Evans Perry, Zhao Xiaonan, Baker Samuel W, Niazi Rojeen, Cao Kajia, Gonzalez Michael A, Jayaraman Pushkala, Conlin Laura K, Krock Bryan L, Deardorff Matthew A, Spinner Nancy B, Krantz Ian D, Santani Avni B, Tayoun Ahmad N Abou, Sarmady Mahdi, European journal of human genetics : EJHG, 2019, PMID:30626929

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

Baker Samuel W, Murrell Jill R, Nesbitt Addie I, Pechter Kieran B, Balciuniene Jorune, Zhao Xiaonan, Yu Zhenming, Denenberg Elizabeth H, DeChene Elizabeth T, Wilkens Alisha B, Bhoj Elizabeth J, Guan Qiaoning, Dulik Matthew C, Conlin Laura K, Abou Tayoun Ahmad N, Luo Minjie, Wu Chao, Cao Kajia, Sarmady Mahdi, Bedoukian Emma C, Tarpinian Jennifer, Medne Livija, Skraban Cara M, Deardorff Matthew A, Krantz Ian D, Krock Bryan L, Santani Avni B, The Journal of molecular diagnostics : JMD 21(1): 38-48, 2019, PMID:30577886

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Designing and Implementing NGS Tests for Inherited Disorders - a Practical Framework with Step-by-Step Guidance for Clinical Laboratories.

Santani Avni, Simen Birgitte B, Briggs Marian, Lebo Matthew, Merker Jason D, Nikiforova Marina, Vasalos Patricia, Voelkerding Karl, Pfeifer John, Funke Birgit, The Journal of molecular diagnostics : JMD, 2018, PMID:30605766

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze Ina, Bunt Jens, Lim Jonathan W C, Schanze Denny, Dean Ryan J, Alders Marielle, Blanchet Patricia, Attié-Bitach Tania, Berland Siren, Boogert Steven, Boppudi Sangamitra, Bridges Caitlin J, Cho Megan T, Dobyns William B, Donnai Dian, Douglas Jessica, Earl Dawn L, Edwards Timothy J, Faivre Laurence, Fregeau Brieana, Genevieve David, Gérard Marion, Gatinois Vincent, Holder-Espinasse Muriel, Huth Samuel F, Izumi Kosuke, Kerr Bronwyn, Lacaze Elodie, Lakeman Phillis, Mahida Sonal, Mirzaa Ghayda M, Morgan Sian M, Nowak Catherine, Peeters Hilde, Petit Florence, Pilz Daniela T, Puechberty Jacques, Reinstein Eyal, Rivière Jean-Baptiste, Santani Avni B, Schneider Anouck, Sherr Elliott H, Smith-Hicks Constance, Wieland Ilse, Zackai Elaine, Zhao Xiaonan, Gronostajski Richard M, Zenker Martin, Richards Linda J, American journal of human genetics 103(5): 752-768, 2018, PMID:30388402

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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Harrison Steven M, Dolinksy Jill S, Chen Wenjie, Collins Christin D, Das Soma, Deignan Joshua L, Garber Kathryn B, Garcia John, Jarinova Olga, Knight Johnson Amy E, Koskenvuo Juha W, Lee Hane, Mao Rong, Mar-Heyming Rebecca, McFaddin Andrew S, Moyer Krista, Nagan Narasimhan, Rentas Stefan, Santani Avni B, Seppälä Eija H, Shirts Brian H, Tidwell Timothy, Topper Scott, Vincent Lisa M, Vinette Kathy, Rehm Heidi L, Human mutation 39(11): 1641-1649, 2018, PMID:30311378

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Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Ritter Alyssa L, McDougall Carey, Skraban Cara, Medne Livija, Bedoukian Emma C, Asher Stephanie B, Balciuniene Jorune, Campbell Colleen D, Baker Samuel W, Denenberg Elizabeth H, Mazzola Sarah, Fiordaliso Sarah K, Krantz Ian D, Kaplan Paige, Ierardi-Curto Lynne, Santani Avni B, Zackai Elaine H, Izumi Kosuke, American journal of medical genetics. Part A 176(9): 1890-1896, 2018, PMID:30152016

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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor Anne, Sadleir Lynette G, Asadollahi Reza, Azzarello-Burri Silvia, Battaglia Agatino, Ousager Lilian Bomme, Boonsawat Paranchai, Bruel Ange-Line, Buchert Rebecca, Calpena Eduardo, Cogné Benjamin, Dallapiccola Bruno, Distelmaier Felix, Elmslie Frances, Faivre Laurence, Haack Tobias B, Harrison Victoria, Henderson Alex, Hunt David, Isidor Bertrand, Joset Pascal, Kumada Satoko, Lachmeijer Augusta M A, Lees Melissa, Lynch Sally Ann, Martinez Francisco, Matsumoto Naomichi, McDougall Carey, Mefford Heather C, Miyake Noriko, Myers Candace T, Moutton Sébastien, Nesbitt Addie, Novelli Antonio, Orellana Carmen, Rauch Anita, Rosello Monica, Saida Ken, Santani Avni B, Sarkar Ajoy, Scheffer Ingrid E, Shinawi Marwan, Steindl Katharina, Symonds Joseph D, Zackai Elaine H, Reis André, Sticht Heinrich, Zweier Christiane, American journal of human genetics 103(2): 305-316, 2018, PMID:30057029

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID, Genet Med, 2018, PMID:29907799

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard Sarah, Biswas Sawona, Li Mindy H, Jayaraman Vijayakumar, Slack Ian, Romasko Edward J, Sasson Ariella, Brunton Joshua, Rajagopalan Ramakrishnan, Sarmady Mahdi, Abrudan Jenica L, Jairam Sowmya, DeChene Elizabeth T, Ying Xiahoan, Choi Jiwon, Wilkens Alisha, Raible Sarah E, Scarano Maria I, Santani Avni, Pennington Jeffrey W, Luo Minjie, Conlin Laura K, Devkota Batsal, Dulik Matthew C, Spinner Nancy B, Krantz Ian D, Genetics in medicine : official journal of the American College of Medical Genetics, 2018, PMID:29907799

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AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Guan Qiaoning, Balciuniene Jorune, Cao Kajia, Fan Zhiqian, Biswas Sawona, Wilkens Alisha, Gallo Daniel J, Bedoukian Emma, Tarpinian Jennifer, Jayaraman Pushkala, Sarmady Mahdi, Dulik Matthew, Santani Avni, Spinner Nancy, Abou Tayoun Ahmad N, Krantz Ian D, Conlin Laura K, Luo Minjie, Genetics in medicine, 2018, PMID:29595809

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