Vandana Shashi | Scholars@Duke

Vandana Shashi
Professor of Pediatrics

Undiagnosed and rare diseases cause significant emotional and financial distress to patients who suffer from these and their families. Duke is one of seven clinical sites to be part of the NIH Undiagnosed Diseases Network (UDN). As a principal investigator for the Duke UDN site, I am involved in arranging detailed clinical evaluation for children and adults with undiagnosed diseases and in the interpretation of the genome sequencing that is performed as part of the initiative to obtain a diagnosis in these individuals. I also currently serve as the Co-Chair of the UDN steering committee.

Chromosome 22q11.2 deletion syndrome (also known as velocardiofacial or DiGeorge syndrome: particular interests are in understanding the learning disabilities and the high risk of mental illness in these children as they get older, for which a research study is ongoing. As a clinician and researcher in this area, I run a clinic for children and adults with 22q11.2 deletion syndrome and am an investigator within the International Brain and Behavior Consortium for 22q11.2 deletion syndrome. The goal of the consortium is to conduct research to understand the genetic underpinnings of the serious mental illnesses such as schizophrenia that occur in ~25% of adolescents and adults with the condition.

Current Research Interests

Undiagnosed and rare diseases are most often caused by changes in one or more genes. Individuals with these rare diseases spend months to years visiting many physicians and undergoing multiple tests, since these diseases are hard to diagnose. Genome sequencing offers the opportunity to provide accurate diagnoses for such patients. Through the Duke clinical site of the Undiagnosed Diseases Network and the Duke Genome Sequencing Clinic, I provide comprehensive diagnostic services for patients with undiagnosed and rare diseases.

I also have an interest in determining the factors that predispose to mental illnesses in individuals with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome or valocardiofacial syndrome), including understanding the underlyiing changes in brain morphology, neuropsychology and genetic factors.

Current Appointments & Affiliations

Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2014

Contact Information

2080 GSRB, Durham, NC 27710
Box 3528 Med Ctr, Durham, NC 27710
vandana.shashi@duke.edu (919) 684-2036
Duke Undiagnosed Diseases Network

Background
Education, Training, & Certifications
- Fellowship-Medical Genetics, Pediatrics, Wake Forest University 1992 - 1995
- Pediatric Residency, Pediatrics, Wake Forest University 1990 - 1992
- Senior Resident-Pediatric Neurology, Pediatrics, Kasturba Medical College (Manipal) 1986 - 1987
- Pediatric Residency, Pediatrics, Kasturba Medical College (Manipal) 1983 - 1986
- M.D., Kasturba Medical College (Manipal) 1986
- M.B.B.S., Kasturba Medical College (Manipal) 1983
Duke Appointment History
- Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2009 - 2014
- Instructor, Temporary in the Department of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2008 - 2009
Recognition
In the News
- OCT 26, 2020 Duke Health News
  
  Diagnoses of Rare Diseases Enhanced through the Teamwork of National Network
- DEC 29, 2014 CBS News
  
  Medical mystery: Genetic clue solves toddler's debilitating illness
- JUL 22, 2014 The New Yorker
  
  One of a kind: What do you do if your child has a condition that is new to science?
- JUL 1, 2014
  
  Duke Named to National Network Studying Rare Diseases
- APR 21, 2014 The News & Observer
  
  Duke researchers uncover new disease in mysteriously sick child
Research
Selected Grants
- Duke Center for Advancement of Child Health (CAtCH). awarded by National Institutes of Health 2021 - 2026
- The Duke FUNCTION Center: Pioneering the comprehensive identification of combinatorial noncoding causes of disease awarded by National Institutes of Health 2020 - 2023
- An integrated and diverse genomic medicine program for undiagnosed diseases awarded by National Institutes of Health 2014 - 2022
- 1/5 International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome awarded by University of Pennsylvania 2013 - 2017
- Development of a Novel Cognitive Remediation Program for 22q11 Deletion Syndrome awarded by National Institutes of Health 2011 - 2014
- Risk Factors for Psychosis in Chromosome 22q11 Deletion Syndrome awarded by National Institutes of Health 2008 - 2014
- Neural correlates of working memory in children with 22q11.2 deletion syndrome awarded by National Institutes of Health 2010 - 2011
External Relationships
- Law firms
Publications & Artistic Works
Selected Publications
- Academic Articles
  - Bowles, Bradley, Alejandro Ferrer, Carla J. Nishimura, Filippo Pinto E Vairo, Tristan Rey, Bruno Leheup, Jennifer Sullivan, et al. “TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.” Am J Med Genet A 185, no. 8 (August 2021): 2417–33. https://doi.org/10.1002/ajmg.a.62347.
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  - Dias, Caroline, Rolph Pfundt, Tjitske Kleefstra, Janneke Shuurs-Hoeijmakers, Elles M. J. Boon, Johanna M. van Hagen, Petra Zwijnenburg, et al. “De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.” Am J Med Genet A 185, no. 8 (August 2021): 2384–90. https://doi.org/10.1002/ajmg.a.62254.
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  - Parenti, Ilaria, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, et al. “Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.” Hum Genet 140, no. 7 (July 2021): 1109–20. https://doi.org/10.1007/s00439-021-02283-2.
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  - Rodan, Lance H., Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, et al. “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.” Genet Med, June 23, 2021. https://doi.org/10.1038/s41436-021-01232-8.
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  - Cappuccio, Gerarda, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer Sullivan, Vandana Shashi, Tamison Jewett, Tara Stamper, et al. “Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.” Human Mutation 42, no. 6 (June 2021): 745–61. https://doi.org/10.1002/humu.24210.
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  - Cope, Heidi, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, et al. “Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.” Mol Genet Genomic Med, May 6, 2021, e1665. https://doi.org/10.1002/mgg3.1665.
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  - Rehder, Catherine, Lora J. H. Bean, David Bick, Elizabeth Chao, Wendy Chung, Soma Das, Julianne O’Daniel, et al. “Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).” Genet Med, April 29, 2021. https://doi.org/10.1038/s41436-021-01139-4.
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  - Kyle, Jennifer E., Kelly G. Stratton, Erika M. Zink, Young-Mo Kim, Kent J. Bloodsworth, Matthew E. Monroe, Matthew E. Undiagnosed Diseases Network, et al. “A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.” Sci Data 8, no. 1 (April 21, 2021): 114. https://doi.org/10.1038/s41597-021-00894-y.
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  - Ferdinandusse, Sacha, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P. N. Ruiter, Alida E. M. van Lint, et al. “An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.” Genet Med 23, no. 4 (April 2021): 740–50. https://doi.org/10.1038/s41436-020-01027-3.
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  - Klöckner, Chiara, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, et al. “Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.” Genet Med 23, no. 4 (April 2021): 796. https://doi.org/10.1038/s41436-020-01090-w.
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  - Moya-Mendez, Mary E., David M. Mueller, Milton Pratt, Melanie Bonner, Courtney Elliott, Arsen Hunanyan, Gary Kucera, et al. “Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.” Epilepsy Behav 116 (March 2021): 107732. https://doi.org/10.1016/j.yebeh.2020.107732.
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  - Weng, Patricia L., Amar J. Majmundar, Kamal Khan, Tze Y. Lim, Shirlee Shril, Gina Jin, John Musgrove, et al. “De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.” Am J Hum Genet 108, no. 2 (February 4, 2021): 357–67. https://doi.org/10.1016/j.ajhg.2021.01.008.
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  - Brunet, Theresa, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, et al. “Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.” Genet Med 23, no. 2 (February 2021): 384–95. https://doi.org/10.1038/s41436-020-00993-y.
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  - Ghosh, Shereen G., Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, et al. “A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.” Eur J Hum Genet 29, no. 2 (February 2021): 271–79. https://doi.org/10.1038/s41431-020-00717-5.
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  - Lenaerts, Lisa, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet-Brilhault, Yana Hoorne, et al. “The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.” Genet Med 23, no. 2 (February 2021): 352–62. https://doi.org/10.1038/s41436-020-00981-2.
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  - Schoch, Kelly, Cecilia Esteves, Anna Bican, Rebecca Spillmann, Heidi Cope, Allyn McConkie-Rosell, Nicole Walley, et al. “Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.” Genet Med 23, no. 2 (February 2021): 259–71. https://doi.org/10.1038/s41436-020-00984-z.
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  - Davies, Robert W., Ania M. Fiksinski, Elemi J. Breetvelt, Nigel M. Williams, Stephen R. Hooper, Thomas Monfeuga, Anne S. Bassett, et al. “Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.” Nat Med 26, no. 12 (December 2020): 1912–18. https://doi.org/10.1038/s41591-020-1103-1.
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  - Cope, Heidi, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily G. Kelley, et al. “Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.” Mol Genet Genomic Med 8, no. 10 (October 2020): e1397. https://doi.org/10.1002/mgg3.1397.
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  - Prange, Lyndsey, Milton Pratt, Kristin Herman, Raphael Schiffmann, David M. Mueller, Melissa McLean, Mary Moya Mendez, et al. “D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.” Neurol Genet 6, no. 5 (October 2020): e466. https://doi.org/10.1212/NXG.0000000000000466.
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  - Sullivan, Jennifer A., Nicholas Stong, Evan H. Baugh, Marie T. McDonald, Akihito Takeuchi, and Vandana Shashi. “A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.” Am J Med Genet A 182, no. 8 (August 2020): 1947–51. https://doi.org/10.1002/ajmg.a.61630.
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  - Schoch, Kelly, Queenie K-G Tan, Nicholas Stong, Kristen L. Deak, Allyn McConkie-Rosell, Marie T. McDonald, Marie T. Undiagnosed Diseases Network, David B. Goldstein, Yong-Hui Jiang, and Vandana Shashi. “Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.” Genet Med 22, no. 7 (July 2020): 1269–75. https://doi.org/10.1038/s41436-020-0781-x.
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  - Baldridge, Dustin, Rebecca C. Spillmann, Daniel J. Wegner, Jennifer A. Wambach, Frances V. White, Kathleen Sisco, Tomi L. Toler, et al. “Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.” Am J Med Genet A 182, no. 5 (May 2020): 1053–65. https://doi.org/10.1002/ajmg.a.61518.
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  - Tran, Linh, Jason Richards, Marie McDonald, Allyn McConkie-Rosell, Nicholas Stong, Joan Jasien, Vandana Shashi, and Mohamad A. Mikati. “Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.” Epileptic Disord 22, no. 1 (February 1, 2020): 103–9. https://doi.org/10.1684/epd.2020.1127.
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  - Johnson, Brett V., Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma Ivancevic, et al. “Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.” Biol Psychiatry 87, no. 2 (January 15, 2020): 100–112. https://doi.org/10.1016/j.biopsych.2019.05.028.
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  - Del Dotto, Valentina, Farid Ullah, Ivano Di Meo, Pamela Magini, Mirjana Gusic, Alessandra Maresca, Leonardo Caporali, et al. “SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.” J Clin Invest 130, no. 1 (January 2, 2020): 108–25. https://doi.org/10.1172/JCI128514.
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  - Zhao, Yingjie, Alexander Diacou, H Richard Johnston, Fadi I. Musfee, Donna M. McDonald-McGinn, Daniel McGinn, T Blaine Crowley, et al. “Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.” Am J Hum Genet 106, no. 1 (January 2, 2020): 26–40. https://doi.org/10.1016/j.ajhg.2019.11.010.
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  - McConkie-Rosell, Allyn, Kelly Schoch, Jennifer Sullivan, Heidi Cope, Rebecca Spillmann, Christina G. S. Palmer, Loren Pena, et al. “The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.” Clin Genet 96, no. 6 (December 2019): 521–31. https://doi.org/10.1111/cge.13635.
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  - Reuter, Chloe M., Jennefer N. Kohler, Devon Bonner, Diane Zastrow, Liliana Fernandez, Annika Dries, Shruti Marwaha, et al. “Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.” J Genet Couns 28, no. 6 (December 2019): 1107–18. https://doi.org/10.1002/jgc4.1161.
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  - Vervoort, Lisanne, Wolfram Demaerel, Laura Y. Rengifo, Adrian Odrzywolski, Elfi Vergaelen, Matthew S. Hestand, Jeroen Breckpot, et al. “Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.” Hum Mol Genet 28, no. 22 (November 15, 2019): 3724–33. https://doi.org/10.1093/hmg/ddz166.
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  - Holt, Richard J., Rodrigo M. Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, et al. “De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.” Am J Hum Genet 105, no. 3 (September 5, 2019): 640–57. https://doi.org/10.1016/j.ajhg.2019.07.005.
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  - Haijes, Hanneke A., Maria J. E. Koster, Holger Rehmann, Dong Li, Hakon Hakonarson, Gerarda Cappuccio, Miroslava Hancarova, et al. “De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.” Am J Hum Genet 105, no. 2 (August 1, 2019): 283–301. https://doi.org/10.1016/j.ajhg.2019.06.016.
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  - Sands, Tristan T., Francesco Miceli, Gaetan Lesca, Anita E. Beck, Lynette G. Sadleir, Daniel K. Arrington, Bitten Schönewolf-Greulich, et al. “Autism and developmental disability caused by KCNQ3 gain-of-function variants.” Ann Neurol 86, no. 2 (August 2019): 181–92. https://doi.org/10.1002/ana.25522.
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  - Shashi, Vandana, Janelle Geist, Youngha Lee, Yongjin Yoo, Unbeom Shin, Kelly Schoch, Jennifer Sullivan, et al. “Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.” Hum Mutat 40, no. 8 (August 2019): 1115–26. https://doi.org/10.1002/humu.23760.
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  - Deisseroth, Cole A., Johannes Birgmeier, Ethan E. Bodle, Jennefer N. Kohler, Dena R. Matalon, Yelena Nazarenko, Casie A. Genetti, et al. “ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.” Genet Med 21, no. 7 (July 2019): 1585–93. https://doi.org/10.1038/s41436-018-0381-1.
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  - Cassini, Thomas A., Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, and Joy Undiagnosed Diseases Network. “Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.” Mol Genet Genomic Med 7, no. 6 (June 2019): e00676. https://doi.org/10.1002/mgg3.676.
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  - Silverman, Edwin K., Patrick Allard, Joseph Loscalzo, John J. Mulvihill, Susan A. Korrick, and Susan A. Undiagnosed Diseases Network. “Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network.” Am J Med Genet A 179, no. 6 (June 2019): 958–65. https://doi.org/10.1002/ajmg.a.61132.
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  - Macnamara, Ellen F., Alanna E. Koehler, Precilla D’Souza, Tyra Estwick, Paul Lee, Gilbert Vezina, Gilbert Undiagnosed Diseases Network, et al. “Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.” Hum Mutat 40, no. 5 (May 2019): 532–38. https://doi.org/10.1002/humu.23722.
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  - Zastrow, Diane B., Jennefer N. Kohler, Devon Bonner, Chloe M. Reuter, Liliana Fernandez, Megan E. Grove, Dianna G. Fisk, et al. “A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.” J Genet Couns 28, no. 2 (April 2019): 213–28. https://doi.org/10.1002/jgc4.1119.
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  - Lutz, Olivia, Paulo Lizano, Suraj Sarvode Mothi, Adam Joseph, Neeraj Tandon, Leighanne Ormston, Stephen Hooper, Matcheri Keshavan, and Vandana Shashi. “Hypogyrification and its association with cognitive impairment in children with 22q11.2 deletion Syndrome: A preliminary report.” Psychiatry Res Neuroimaging 285 (March 30, 2019): 47–50. https://doi.org/10.1016/j.pscychresns.2019.01.007.
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  - Burrage, Lindsay C., John J. Reynolds, Nissan Vida Baratang, Jennifer B. Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R. Higgs, et al. “Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.” Am J Hum Genet 104, no. 3 (March 7, 2019): 422–38. https://doi.org/10.1016/j.ajhg.2019.01.007.
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  - Cogné, Benjamin, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, et al. “Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.” Am J Hum Genet 104, no. 3 (March 7, 2019): 530–41. https://doi.org/10.1016/j.ajhg.2019.01.010.
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  - Kelly, McKenna, Meredith Park, Ivana Mihalek, Anne Rochtus, Marie Gramm, Eduardo Pérez-Palma, Erika Takle Axeen, et al. “Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.” Epilepsia 60, no. 3 (March 2019): 406–18. https://doi.org/10.1111/epi.14653.
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  - Niarchou, Maria, Samuel J. R. A. Chawner, Ania Fiksinski, Jacob A. S. Vorstman, Johanna Maeder, Maude Schneider, Stephan Eliez, et al. “Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome.” Schizophr Res 204 (February 2019): 320–25. https://doi.org/10.1016/j.schres.2018.07.044.
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  - Machol, Keren, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, et al. “Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.” Am J Hum Genet 104, no. 1 (January 3, 2019): 164–78. https://doi.org/10.1016/j.ajhg.2018.11.007.
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  - Shashi, Vandana, Kelly Schoch, Rebecca Spillmann, Heidi Cope, Queenie K-G Tan, Nicole Walley, Loren Pena, et al. “A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.” Genet Med 21, no. 1 (January 2019): 161–72. https://doi.org/10.1038/s41436-018-0044-2.
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  - Shashi, Vandana, Maria M. Magiera, Dennis Klein, Maha Zaki, Kelly Schoch, Sabine Rudnik-Schöneborn, Andrew Norman, et al. “Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.” Embo J 37, no. 23 (December 3, 2018). https://doi.org/10.15252/embj.2018100540.
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  - Splinter, Kimberly, David R. Adams, Carlos A. Bacino, Hugo J. Bellen, Jonathan A. Bernstein, Alys M. Cheatle-Jarvela, Christine M. Eng, et al. “Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.” N Engl J Med 379, no. 22 (November 29, 2018): 2131–39. https://doi.org/10.1056/NEJMoa1714458.
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  - Greene, C., J. Kealy, M. M. Humphries, Y. Gong, J. Hou, N. Hudson, L. M. Cassidy, et al. “Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia.” Mol Psychiatry 23, no. 11 (November 2018): 2156–66. https://doi.org/10.1038/mp.2017.156.
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  - Tan, Queenie K-G, Heidi Cope, Rebecca C. Spillmann, Nicholas Stong, Yong-Hui Jiang, Marie T. McDonald, Jennifer A. Rothman, et al. “Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.” Cold Spring Harb Mol Case Stud 4, no. 5 (October 2018). https://doi.org/10.1101/mcs.a003046.
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  - Zhao, Yingjie, Tingwei Guo, Ania Fiksinski, Elemi Breetvelt, Donna M. McDonald-McGinn, Terrence B. Crowley, Alexander Diacou, et al. “Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.” Am J Med Genet A 176, no. 10 (October 2018): 2172–81. https://doi.org/10.1002/ajmg.a.40359.
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  - Demaerel, Wolfram, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos López-Sánchez, Luis A. Pérez-Jurado, Donna M. McDonald-McGinn, et al. “Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.” Am J Hum Genet 103, no. 3 (September 6, 2018): 457. https://doi.org/10.1016/j.ajhg.2018.08.011.
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  - Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 3 (September 6, 2018): 456. https://doi.org/10.1016/j.ajhg.2018.08.010.
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  - Walley, Nicole M., Loren D. M. Pena, Stephen R. Hooper, Heidi Cope, Yong-Hui Jiang, Allyn McConkie-Rosell, Camilla Sanders, et al. “Characteristics of undiagnosed diseases network applicants: implications for referring providers.” Bmc Health Serv Res 18, no. 1 (August 22, 2018): 652. https://doi.org/10.1186/s12913-018-3458-2.
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  - Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 2 (August 2, 2018): 245–60. https://doi.org/10.1016/j.ajhg.2018.07.006.
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  - McConkie-Rosell, Allyn, Stephen R. Hooper, Loren D. M. Pena, Kelly Schoch, Rebecca C. Spillmann, Yong-Hui Jiang, Heidi Cope, Heidi Undiagnosed Diseases Network, Christina Palmer, and Vandana Shashi. “Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?” J Genet Couns 27, no. 4 (August 2018): 935–46. https://doi.org/10.1007/s10897-017-0193-5.
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  - Liu, Ning, Kelly Schoch, Xi Luo, Loren D. M. Pena, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, et al. “Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.” Hum Mol Genet 27, no. 14 (July 15, 2018): 2454–65. https://doi.org/10.1093/hmg/ddy146.
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  - Pena, Loren D. M., Yong-Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, et al. “Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.” Genet Med 20, no. 4 (April 2018): 464–69. https://doi.org/10.1038/gim.2017.128.
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  - Oláhová, Monika, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M. Davidson, Jennifer E. Kyle, et al. “Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.” Am J Hum Genet 102, no. 3 (March 1, 2018): 494–504. https://doi.org/10.1016/j.ajhg.2018.01.020.
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  - Demaerel, Wolfram, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos López-Sánchez, Luis A. Pérez-Jurado, Donna M. McDonald-McGinn, et al. “Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.” Am J Hum Genet 101, no. 4 (October 5, 2017): 616–22. https://doi.org/10.1016/j.ajhg.2017.09.002.
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  - Hooper, Stephen R., and Vandana Shashi. “Completing the puzzle: The search for pieces in the understanding of psychosis risk in 22q11.2 deletion syndrome.” Schizophr Res 188 (October 2017): 33–34. https://doi.org/10.1016/j.schres.2017.07.040.
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  - Wangler, Michael F., Shinya Yamamoto, Hsiao-Tuan Chao, Jennifer E. Posey, Monte Westerfield, John Postlethwait, John Members of the Undiagnosed Diseases Network (UDN), et al. “Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.” Genetics 207, no. 1 (September 2017): 9–27. https://doi.org/10.1534/genetics.117.203067.
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  - Weisman, Omri, Yael Guri, Raquel E. Gur, Donna M. McDonald-McGinn, Monica E. Calkins, Sunny X. Tang, Beverly Emanuel, et al. “Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.” Schizophr Bull 43, no. 5 (September 1, 2017): 1079–89. https://doi.org/10.1093/schbul/sbx005.
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  - Wang, Julia, Rami Al-Ouran, Yanhui Hu, Seon-Young Kim, Ying-Wooi Wan, Michael F. Wangler, Shinya Yamamoto, et al. “MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.” Am J Hum Genet 100, no. 6 (June 1, 2017): 843–53. https://doi.org/10.1016/j.ajhg.2017.04.010.
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  - Spillmann, Rebecca C., Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Yong-Hui Undiagnosed Diseases Network, Kelly Schoch, Nicole Walley, et al. “A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.” Orphanet J Rare Dis 12, no. 1 (April 17, 2017): 71. https://doi.org/10.1186/s13023-017-0623-3.
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  - Need, Anna C., Vandana Shashi, Kelly Schoch, Slavé Petrovski, and David B. Goldstein. “The importance of dynamic re-analysis in diagnostic whole exome sequencing.” J Med Genet 54, no. 3 (March 2017): 155–56. https://doi.org/10.1136/jmedgenet-2016-104306.
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  - Guipponi, M., F. Santoni, M. Schneider, C. Gehrig, X. B. Bustillo, W. R. Kates, B. Morrow, et al. “No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.” Transl Psychiatry 7, no. 2 (February 21, 2017): e1039. https://doi.org/10.1038/tp.2016.258.
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  - Chao, Hsiao-Tuan, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, et al. “A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.” Am J Hum Genet 100, no. 1 (January 5, 2017): 128–37. https://doi.org/10.1016/j.ajhg.2016.11.018.
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  - Shashi, Vandana, Loren D. M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, et al. “De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.” Am J Hum Genet 100, no. 1 (January 5, 2017): 179. https://doi.org/10.1016/j.ajhg.2016.12.004.
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  - Harrell, Waverly, Ling Zou, Zoe Englander, Stephen R. Hooper, Matcheri S. Keshavan, Allen Song, and Vandana Shashi. “Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome.” J Child Neurol 32, no. 1 (January 2017): 94–99. https://doi.org/10.1177/0883073816670813.
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  - Millichap, John J., Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, et al. “Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.” Epilepsia 58, no. 1 (January 2017): e10–15. https://doi.org/10.1111/epi.13601.
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  - Shashi, Vandana, Loren D. M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, et al. “De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.” Am J Hum Genet 99, no. 4 (October 6, 2016): 991–99. https://doi.org/10.1016/j.ajhg.2016.08.017.
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  - Rosell, Allyn McConkie, Loren D. M. Pena, Kelly Schoch, Rebecca Spillmann, Jennifer Sullivan, Stephen R. Hooper, Yong-Hui Jiang, Nicolas Mathey-Andrews, David B. Goldstein, and Vandana Shashi. “Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.” J Genet Couns 25, no. 5 (October 2016): 1019–31. https://doi.org/10.1007/s10897-016-9933-1.
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  - Kim, Jung-Hyun, Deepali N. Shinde, Margot R. F. Reijnders, Natalie S. Hauser, Rebecca L. Belmonte, Gregory R. Wilson, Daniëlle G. M. Bosch, et al. “De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.” Am J Hum Genet 99, no. 3 (September 1, 2016): 711–19. https://doi.org/10.1016/j.ajhg.2016.06.029.
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  - Mastrangelo, Mario, Ingrid E. Scheffer, Nuria C. Bramswig, Lal D. V. Nair, Candace T. Myers, Maria Lisa Dentici, Georg C. Korenke, et al. “Epilepsy in KCNH1-related syndromes.” Epileptic Disord 18, no. 2 (June 1, 2016): 123–36. https://doi.org/10.1684/epd.2016.0830.
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  - Hart, Sarah J., Kelly Schoch, Vandana Shashi, and Nancy Callanan. “Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.” J Genet Couns 25, no. 1 (February 2016): 6–17. https://doi.org/10.1007/s10897-015-9910-0.
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  - Shashi, V., A. McConkie-Rosell, K. Schoch, V. Kasturi, C. Rehder, Y. H. Jiang, D. B. Goldstein, and M. T. McDonald. “Practical considerations in the clinical application of whole-exome sequencing.” Clin Genet 89, no. 2 (February 2016): 173–81. https://doi.org/10.1111/cge.12569.
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  - Mikati, Mohamad A., Yong-Hui Jiang, Michael Carboni, Vandana Shashi, Slave Petrovski, Rebecca Spillmann, Carol J. Milligan, et al. “Quinidine in the treatment of KCNT1-positive epilepsies.” Ann Neurol 78, no. 6 (December 2015): 995–99. https://doi.org/10.1002/ana.24520.
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  - Williams, C., Y. -. H. Jiang, V. Shashi, R. Crimian, K. Schoch, A. Harper, D. McHale, D. Goldstein, and S. Petrovski. “Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.” Clin Genet 88, no. 6 (December 2015): 597–99. https://doi.org/10.1111/cge.12581.
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  - Brownstein, Catherine A., Ingrid A. Holm, Rachel Ramoni, David B. Goldstein, and David B. Members of the Undiagnosed Diseases Network. “Data sharing in the undiagnosed diseases network.” Hum Mutat 36, no. 10 (October 2015): 985–88. https://doi.org/10.1002/humu.22840.
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  - Okashah, Rebecca, Kelly Schoch, Stephen R. Hooper, Vandana Shashi, and Nancy Callanan. “Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome.” J Genet Couns 24, no. 5 (October 2015): 752–59. https://doi.org/10.1007/s10897-014-9806-4.
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  - Petrovski, Slavé, Vandana Shashi, Steven Petrou, Kelly Schoch, Keisha Melodi McSweeney, Ryan S. Dhindsa, Brian Krueger, et al. “Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.” Cold Spring Harb Mol Case Stud 1, no. 1 (October 2015): a000257. https://doi.org/10.1101/mcs.a000257.
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  - Shashi, V., P. Xie, K. Schoch, D. B. Goldstein, T. D. Howard, M. N. Berry, C. E. Schwartz, et al. “The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.” Clin Genet 88, no. 4 (October 2015): 386–90. https://doi.org/10.1111/cge.12511.
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  - Shashi, V., W. Harrell, S. Eack, C. Sanders, A. McConkie-Rosell, M. S. Keshavan, M. J. Bonner, K. Schoch, and S. R. Hooper. “Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention.” J Intellect Disabil Res 59, no. 10 (October 2015): 902–13. https://doi.org/10.1111/jir.12192.
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  - Shashi, Vandana, Slavé Petrovski, Kelly Schoch, Rebecca Crimian, Laura E. Case, Roha Khalid, Maysantoine A. El-Dairi, Yong-Hui Jiang, Mohamad A. Mikati, and David B. Goldstein. “Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.” Cold Spring Harb Mol Case Stud 1, no. 1 (October 2015): a000265. https://doi.org/10.1101/mcs.a000265.
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  - Zhu, Xiaolin, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yi-Fan Lu, K Melodi McSweeney, Bruria Ben-Zeev, et al. “Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.” Genet Med 17, no. 10 (October 2015): 774–81. https://doi.org/10.1038/gim.2014.191.
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  - Goodwin, J., K. Schoch, V. Shashi, S. R. Hooper, O. Morad, M. Zalevsky, D. Gothelf, and L. E. Campbell. “A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders.” J Intellect Disabil Res 59, no. 5 (May 2015): 474–86. https://doi.org/10.1111/jir.12151.
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  - Vorstman, Jacob A. S., Elemi J. Breetvelt, Sasja N. Duijff, Stephan Eliez, Maude Schneider, Maria Jalbrzikowski, Marco Armando, et al. “Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.” Jama Psychiatry 72, no. 4 (April 2015): 377–85. https://doi.org/10.1001/jamapsychiatry.2014.2671.
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  - Chong, Jessica X., Margaret J. McMillin, Kathryn M. Shively, Anita E. Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, et al. “De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.” Am J Hum Genet 96, no. 3 (March 5, 2015): 462–73. https://doi.org/10.1016/j.ajhg.2015.01.003.
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  - Enns, Gregory M., Vandana Shashi, Matthew Bainbridge, Michael J. Gambello, Farah R. Zahir, Thomas Bast, Rebecca Crimian, et al. “Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.” Genet Med 16, no. 10 (October 2014): 751–58. https://doi.org/10.1038/gim.2014.22.
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  - Li, Wei, Bing Wu, Anastasia Batrachenko, Vivian Bancroft-Wu, Rajendra A. Morey, Vandana Shashi, Christian Langkammer, et al. “Differential developmental trajectories of magnetic susceptibility in human brain gray and white matter over the lifespan.” Hum Brain Mapp 35, no. 6 (June 2014): 2698–2713. https://doi.org/10.1002/hbm.22360.
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  - Schneider, Maude, Martin Debbané, Anne S. Bassett, Eva W. C. Chow, Wai Lun Alan Fung, Marianne van den Bree, Michael Owen, et al. “Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.” Am J Psychiatry 171, no. 6 (June 2014): 627–39. https://doi.org/10.1176/appi.ajp.2013.13070864.
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  - Schoch, Kelly, Waverly Harrell, Stephen R. Hooper, Edward H. Ip, Santiago Saldana, Thomas R. Kwapil, and Vandana Shashi. “Applicability of the nonverbal learning disability paradigm for children with 22q11.2 deletion syndrome.” J Learn Disabil 47, no. 2 (March 2014): 153–66. https://doi.org/10.1177/0022219412443556.
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  - Shashi, Vandana, Allyn McConkie-Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong-Hui Jiang, Pingxing Xie, Anna Need, and David B. Goldstein. “The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.” Genet Med 16, no. 2 (February 2014): 176–82. https://doi.org/10.1038/gim.2013.99.
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  - Allen, T. M., J. Hersh, K. Schoch, K. Curtiss, S. R. Hooper, and V. Shashi. “Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome.” J Intellect Disabil Res 58, no. 1 (January 2014): 31–47. https://doi.org/10.1111/jir.12054.
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  - Wray, Emily, Vandana Shashi, Kelly Schoch, Kathleen Curtiss, and Stephen R. Hooper. “Discrepancies in Parent and Teacher Ratings of Social-Behavioral Functioning of Children With Chromosome 22q11.2 Deletion Syndrome: Implications for Assessment (vol 118, pg 339, 2013).” Ajidd American Journal on Intellectual and Developmental Disabilities 118, no. 6 (November 1, 2013): 412–412.
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  - Harrell, Waverly, Shaun Eack, Stephen R. Hooper, Matcheri S. Keshavan, Melanie S. Bonner, Kelly Schoch, and Vandana Shashi. “Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome.” Res Dev Disabil 34, no. 9 (September 2013): 2606–13. https://doi.org/10.1016/j.ridd.2013.05.009.
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  - Wray, Emily, Vandana Shashi, Kelly Schoch, Kathleen Curtiss, and Stephen R. Hooper. “Discrepancies in parent and teacher ratings of social-behavioral functioning of children with chromosome 22q11.2 deletion syndrome: implications for assessment.” Am J Intellect Dev Disabil 118, no. 5 (September 2013): 339–52. https://doi.org/10.1352/1944-7558-118.5.339.
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  - Hooper, Stephen R., Kathleen Curtiss, Kelly Schoch, Matcheri S. Keshavan, Andrew Allen, and Vandana Shashi. “A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome.” Res Dev Disabil 34, no. 5 (May 2013): 1758–69. https://doi.org/10.1016/j.ridd.2012.12.003.
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  - Delio, Maria, Tingwei Guo, Donna M. McDonald-McGinn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, et al. “Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.” Am J Hum Genet 92, no. 3 (March 7, 2013): 439–47. https://doi.org/10.1016/j.ajhg.2013.01.018.
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  - Alders, M., A. Mendola, L. Adès, L. Al Gazali, C. Bellini, B. Dallapiccola, P. Edery, et al. “Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.” Mol Syndromol 4, no. 3 (March 2013): 107–13. https://doi.org/10.1159/000342486.
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  - Faux, Dana, Kelly Schoch, Sonja Eubanks, Stephen R. Hooper, and Vandana Shashi. “Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.” J Genet Couns 21, no. 6 (December 2012): 835–44. https://doi.org/10.1007/s10897-012-9535-5.
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  - Shashi, Vandana, Aravindhan Veerapandiyan, Matcheri S. Keshavan, Michael Zapadka, Kelly Schoch, Thomas R. Kwapil, Stephen R. Hooper, and Jeffrey A. Stanley. “Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy study.” Biol Psychiatry 72, no. 8 (October 15, 2012): 684–91. https://doi.org/10.1016/j.biopsych.2012.04.023.
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  - Shashi, Vandana, Alan Francis, Stephen R. Hooper, Peter G. Kranz, Michael Zapadka, Kelly Schoch, Edward Ip, Neeraj Tandon, Timothy D. Howard, and Matcheri S. Keshavan. “Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms.” Eur J Hum Genet 20, no. 10 (October 2012): 1051–57. https://doi.org/10.1038/ejhg.2012.138.
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  - Shashi, V., A. Veerapandiyan, K. Schoch, T. Kwapil, M. Keshavan, E. Ip, and S. Hooper. “Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions.” J Intellect Disabil Res 56, no. 9 (September 2012): 865–78. https://doi.org/10.1111/j.1365-2788.2011.01477.x.
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  - Need, Anna C., Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V. Shianna, Marie T. McDonald, Miriam H. Meisler, and David B. Goldstein. “Clinical application of exome sequencing in undiagnosed genetic conditions.” J Med Genet 49, no. 6 (June 2012): 353–61. https://doi.org/10.1136/jmedgenet-2012-100819.
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  - Hagan, John B., Richard L. Wasserman, Jeffrey S. Baggish, Martin O. Spycher, Melvin Berger, Vandana Shashi, Emanuel Lohrmann, and Kathleen E. Sullivan. “Safety of L-proline as a stabilizer for immunoglobulin products (vol 8, pg 169, 2012).” Expert Review of Clinical Immunology 8, no. 4 (May 1, 2012): 396–396.
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  - Das Chakraborty, R., A. J. Bernal, K. Schoch, T. D. Howard, E. H. Ip, S. R. Hooper, M. S. Keshavan, R. L. Jirtle, and V. Shashi. “Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.” Transl Psychiatry 2 (April 24, 2012): e105. https://doi.org/10.1038/tp.2012.31.
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  - Veerapandiyan, Aravindhan, Omar A. Abdul-Rahman, Margaret P. Adam, Michael J. Lyons, Melanie Manning, Karlene Coleman, Lisa Kobrynski, et al. “Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.” Am J Med Genet A 155A, no. 9 (September 2011): 2186–95. https://doi.org/10.1002/ajmg.a.34226.
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  - Cooper, Gregory M., Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany H. Vu, Carl Baker, Charles Williams, et al. “A copy number variation morbidity map of developmental delay.” Nat Genet 43, no. 9 (August 14, 2011): 838–46. https://doi.org/10.1038/ng.909.
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  - Young, Andrea S., Vandana Shashi, Kelly Schoch, Thomas Kwapil, and Stephen R. Hooper. “Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome.” Asian J Psychiatr 4, no. 2 (June 1, 2011): 119–24. https://doi.org/10.1016/j.ajp.2011.03.002.
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  - Hoogeveen-Westerveld, Marianne, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, et al. “Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.” Hum Mutat 32, no. 4 (April 2011): 424–35. https://doi.org/10.1002/humu.21451.
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  - Veerapandiyan, Aravindhan, David Blalock, Srija Ghosh, Edward Ip, Craig Barnes, and Vandana Shashi. “The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome.” Laryngoscope 121, no. 4 (April 2011): 732–37. https://doi.org/10.1002/lary.21449.
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  - Scurr, Ingrid, Louise Wilson, Melissa Lees, Stephen Robertson, Edwin Kirk, Anne Turner, John Morton, et al. “Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.” Am J Med Genet A 155A, no. 3 (March 2011): 508–18. https://doi.org/10.1002/ajmg.a.33885.
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  - Veerapandiyan, A., W. B. Gallentine, K. Schoch, and V. Shashi. “Epilepsy in trisomy 7 mosaicism: A case report and literature review.” Journal of Pediatric Neurology 9, no. 1 (March 1, 2011): 63–68. https://doi.org/10.3233/JPN-2010-0442.
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  - Veerapandiyan, Aravindhan, Ivan Kingyue Chinn, Kelly Schoch, Kristin A. Maloney, and Vandana Shashi. “Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.” Eur J Med Genet 54, no. 1 (January 2011): 63–66. https://doi.org/10.1016/j.ejmg.2010.09.004.
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  - Veerapandiyan, Aravindhan, Vandana Shashi, Yong-Hui Jiang, William Brian Gallentine, Kelly Schoch, and Edward Clinton Smith. “Pseudometabolic presentation of dystrophinopathy due to a missense mutation.” Muscle Nerve 42, no. 6 (December 2010): 975–79. https://doi.org/10.1002/mus.21823.
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  - Shashi, Vandana, Matcheri Keshavan, Jessica Kaczorowski, Kelly Schoch, Kathryn E. Lewandowski, Allyn McConkie-Rosell, Stephen R. Hooper, and Thomas R. Kwapil. “Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling.” J Genet Couns 19, no. 5 (October 2010): 535–44. https://doi.org/10.1007/s10897-010-9309-x.
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  - Shashi, Vandana, Timothy D. Howard, Matcheri S. Keshavan, Jessica Kaczorowski, Margaret N. Berry, Kelly Schoch, Edward J. Spence, and Thomas R. Kwapil. “COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome.” Psychiatry Res 178, no. 2 (July 30, 2010): 433–36. https://doi.org/10.1016/j.psychres.2010.04.048.
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  - Shashi, Vandana, Thomas R. Kwapil, Jessica Kaczorowski, Margaret N. Berry, Cesar S. Santos, Timothy D. Howard, Dhruman Goradia, et al. “Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome.” Psychiatry Res 181, no. 1 (January 30, 2010): 1–8. https://doi.org/10.1016/j.pscychresns.2009.07.003.
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  - Shashi, V., M. N. Berry, and M. S. Keshavan. “Mechanistic approach to understanding psychosis risk in velocardiofacial syndrome.” Current Pediatric Reviews 5, no. 2 (August 18, 2009): 89–104. https://doi.org/10.2174/157339609788185703.
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  - Chapman, D Brandon, Vandana Shashi, and Daniel J. Kirse. “Case report: aplasia of the lacrimal and major salivary glands (ALSG).” Int J Pediatr Otorhinolaryngol 73, no. 6 (June 2009): 899–901. https://doi.org/10.1016/j.ijporl.2009.03.004.
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  - Prattichizzo, Clelia, Marina Macca, Valeria Novelli, Giovanna Giorgio, Adriano Barra, Brunella Franco, and Brunella Oral-Facial-Digital Type I (OFDI) Collaborative Group. “Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.” Hum Mutat 29, no. 10 (October 2008): 1237–46. https://doi.org/10.1002/humu.20792.
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  - Entesarian, Miriam, Johanna Dahlqvist, Vandana Shashi, Christy S. Stanley, Babak Falahat, William Reardon, and Niklas Dahl. “FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).” Eur J Hum Genet 15, no. 3 (March 2007): 379–82. https://doi.org/10.1038/sj.ejhg.5201762.
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  - Botzenhart, Elke M., Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, et al. “Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.” Hum Mutat 28, no. 2 (February 2007): 204–5. https://doi.org/10.1002/humu.9476.
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  - Lewandowski, Kathryn Eve, Vandana Shashi, Peggy M. Berry, and Thomas R. Kwapil. “Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome.” Am J Med Genet B Neuropsychiatr Genet 144B, no. 1 (January 5, 2007): 27–36. https://doi.org/10.1002/ajmg.b.30379.
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  - Shashi, V., M. S. Keshavan, T. D. Howard, M. N. Berry, M. J. Basehore, E. Lewandowski, and T. R. Kwapil. “Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.” Clin Genet 69, no. 3 (March 2006): 234–38. https://doi.org/10.1111/j.1399-0004.2006.00569.x.
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  - Fan, Hongxin, Jessica K. Booker, Shawn E. McCandless, Vandana Shashi, Alison Fleming, and Rosann A. Farber. “Mosaicism for an FMR1 gene deletion in a fragile X female.” Am J Med Genet A 136, no. 2 (July 15, 2005): 214–17. https://doi.org/10.1002/ajmg.a.30807.
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  - Shashi, Vandana, Srirangam Muddasani, Cesar C. Santos, Margaret N. Berry, Thomas R. Kwapil, Eve Lewandowski, and Matcheri S. Keshavan. “Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome.” Neuroimage 21, no. 4 (April 2004): 1399–1406. https://doi.org/10.1016/j.neuroimage.2003.12.004.
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  - Shashi, V., J. R. White, M. J. Pettenati, S. K. Root, and W. L. Bell. “Ring chromosome 17: phenotype variation by deletion size.” Clin Genet 64, no. 4 (October 2003): 361–65. https://doi.org/10.1034/j.1399-0004.2003.00146.x.
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  - Chauvenet, Allen R., Vandana Shashi, Clifford Selsky, Elaine Morgan, Joanne Kurtzberg, Beverly Bell, and Beverly Pediatric Oncology Group Study. “Vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group study.” J Pediatr Hematol Oncol 25, no. 4 (April 2003): 316–20. https://doi.org/10.1097/00043426-200304000-00010.
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  - Daniel, Elena, Elizabeth A. McCurdy, Vandana Shashi, and William F. McGuirt. “Ectodermal dysplasia: otolaryngologic manifestations and management.” Laryngoscope 112, no. 6 (June 2002): 962–67. https://doi.org/10.1097/00005537-200206000-00005.
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  - Shashi, Vandana, Margaret N. Berry, and Wesley Covitz. “A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome.” Am J Med Genet 108, no. 3 (March 15, 2002): 205–8. https://doi.org/10.1002/ajmg.10264.
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  - Evans, L. E., V. Shashi, A. R. Turner, R. Schwartz, and M. J. Pettenati. “Multiple copies of SHOX does not overcompensate for the loss of Yq in a male with short stature and iso Yp.” American Journal of Human Genetics 69, no. 4 (October 1, 2001): 316–316.
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  - Shashi, V., M. N. Berry, and M. H. Hines. “Vasomotor instability in chromosome 22q11 deletion.” American Journal of Human Genetics 69, no. 4 (October 1, 2001): 283–283.
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  - Turner, A. R., D. Conrad, W. McGuirt, and V. Shashi. “Reynolds acrofacial dysostosis: Report of an additional family.” American Journal of Human Genetics 69, no. 4 (October 1, 2001): 292–292.
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  - Pettenati, M. J., M. Berry, V. Shashi, J. Hartley Bowen, and M. Harper. “Prenatal diagnosis of complete sole trisomy 1q.” Prenat Diagn 21, no. 6 (June 2001): 435–40. https://doi.org/10.1002/pd.64.
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  - Shashi, V., A. Rickheim, and M. J. Pettenati. “Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects.” Am J Med Genet 100, no. 1 (April 15, 2001): 25–29. https://doi.org/10.1002/ajmg.1186.
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  - Shashi, V., M. N. Berry, and W. Covitz. “Does every neonate with Down syndrome need an echocardiogram?” American Journal of Human Genetics 67, no. 4 (October 1, 2000): 115–115.
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  - Shashi, V., M. N. Berry, S. Shoaf, J. J. Sciote, D. Goldstein, and T. C. Hart. “A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.” Am J Hum Genet 66, no. 2 (February 2000): 469–79. https://doi.org/10.1086/302772.
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  - Shashi, V., M. J. Pettenati, C. von Kap-Herr, and D. W. Bowden. “Chromosome 7q22 is a likely site of a tumor suppressor gene in malignant myeloid diseases.” American Journal of Human Genetics 65, no. 4 (October 1, 1999): A322–A322.
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  - Shashi, V., M. N. Berry, C. Santos, and M. J. Pettenati. “Partial duplication of 4q12q13 leads to a mild phenotype.” Am J Med Genet 86, no. 1 (September 3, 1999): 51–53.
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  - Shashi, V., D. Pallos, M. J. Pettenati, J. R. Cortelli, J. P. Fryns, C. von Kap-Herr, and T. C. Hart. “Genetic heterogeneity of gingival fibromatosis on chromosome 2p.” J Med Genet 36, no. 9 (September 1999): 683–86.
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  - Hart, T. C., J. A. Price, P. L. Bobby, M. J. Pettenati, V. Shashi, C. Von Kap Herr, and T. E. Van Dyke. “Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22.” Genomics 56, no. 2 (March 1, 1999): 233–35. https://doi.org/10.1006/geno.1998.5624.
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  - Shashi, V., D. Berry, T. H. Stamper, and M. Pettenati. “A further case of choanal atresia in the deletion (9p) syndrome.” Am J Med Genet 80, no. 4 (December 4, 1998): 440.
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  - Robson, W. L., V. Shashi, S. Nagaraj, and J. P. Nørgaard. “Water intoxication in a patient with the Prader-Willi syndrome treated with desmopressin for nocturnal enuresis.” J Urol 157, no. 2 (February 1997): 646–47.
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  - Gaffey, M. J., H. F. Frierson, J. C. Iezzoni, S. E. Mills, P. B. Clement, D. J. Gersell, V. Shashi, C. VonKapHerr, and R. H. Young. “Ovarian granulosa cell tumors with bizarre nuclei: An immunohistochemical analysis with fluorescence in situ hybridization documenting trisomy 12 in the bizarre component (vol 9, pg 308, 1996).” Modern Pathology 9, no. 7 (July 1, 1996): 803–803.
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  - Shashi, V., W. L. Golden, P. S. Allinson, S. H. Blanton, C. von Kap-Herr, and T. E. Kelly. “Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.” Am J Hum Genet 58, no. 6 (June 1996): 1231–38.
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  - Shashi, V., W. L. Golden, C. von Kap-Herr, and W. G. Wilson. “Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18?” Am J Med Genet 62, no. 1 (March 1, 1996): 38–41. https://doi.org/10.1002/(SICI)1096-8628(19960301)62:1<38::AID-AJMG8>3.0.CO;2-S.
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  - Schneider, B. F., V. Shashi, C. von Kap-herr, and W. L. Golden. “Loss of chromosomes 22 and 14 in the malignant progression of meningiomas. A comparative study of fluorescence in situ hybridization (FISH) and standard cytogenetic analysis.” Cancer Genet Cytogenet 85, no. 2 (December 1995): 101–4. https://doi.org/10.1016/0165-4608(95)00154-9.
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  - Shashi, V., and J. S. Fryburg. “Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome.” Clin Genet 48, no. 6 (December 1995): 324–27. https://doi.org/10.1111/j.1399-0004.1995.tb04119.x.
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  - Shashi, V., J. Zunich, T. E. Kelly, and J. S. Fryburg. “Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.” J Med Genet 32, no. 6 (June 1995): 465–69. https://doi.org/10.1136/jmg.32.6.465.
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  - Shashi, V., P. Clark, A. D. Rogol, and W. G. Wilson. “Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?” Am J Med Genet 57, no. 1 (May 22, 1995): 22–26. https://doi.org/10.1002/ajmg.1320570107.
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  - SCHNEIDER, B. F., S. R. VANDENBERG, K. W. SUDDUTH, C. VONKAPHERR, V. SHASHI, and W. L. GOLDEN. “STRUCTURAL ABNORMALITIES OF CHROMOSOME-14 IN MENINGIOMAS - EVIDENCE FOR A PROGRESSION GENE.” Cytogenetics and Cell Genetics 69, no. 1–2 (January 1, 1995): 124–124.
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  - Shashi, V., W. L. Golden, C. von Kap-Herr, W. A. Andersen, and M. J. Gaffey. “Interphase fluorescence in situ hybridization for trisomy 12 on archival ovarian sex cord-stromal tumors.” Gynecol Oncol 55, no. 3 Pt 1 (December 1994): 349–54. https://doi.org/10.1006/gyno.1994.1305.
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  - Shashi, V., M. A. Lovell, C. von Kap-herr, P. Waldron, and W. L. Golden. “Malignant rhabdoid tumor of the kidney: involvement of chromosome 22.” Genes Chromosomes Cancer 10, no. 1 (May 1994): 49–54. https://doi.org/10.1002/gcc.2870100108.
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  - SHASHI, V., P. S. ALLINSON, W. L. GOLDEN, and T. E. KELLY. “DECREASED RECOMBINATION IN OOGENESIS IN A FAMILY WITH A LARGE PERICENTRIC X-CHROMOSOME INVERSION.” Pediatric Research 35, no. 4 (April 1, 1994): A154–A154.
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  - Shashi, V., W. L. Golden, and J. S. Fryburg. “Choanal atresia in a patient with the deletion (9p) syndrome.” Am J Med Genet 49, no. 1 (January 1, 1994): 88–90. https://doi.org/10.1002/ajmg.1320490116.
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  - GOLDEN, W. L., V. SHASHI, C. VONKAPHERR, K. W. SUDDUTH, and B. F. SCHNEIDER. “COMPARATIVE FLUORESCENT IN-SITU HYBRIDIZATION AND STANDARD CYTOGENETIC ANALYSIS IN MENINGIOMAS.” American Journal of Human Genetics 53, no. 3 (September 1, 1993): 302–302.
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  - SHASHI, V., W. L. GOLDEN, C. VONKAPHERR, and M. J. GAFFEY. “INTERPHASE CYTOGENETIC ANALYSIS FOR TRISOMY-12 IN OVARIAN SEX CORD-STROMAL TUMORS.” American Journal of Human Genetics 53, no. 3 (September 1, 1993): 364–364.
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  - WILSON, W. G., W. L. GOLDEN, C. VONKAPHERR, and V. SHASHI. “FISH DETECTION OF TISSUE-SPECIFIC MOSAICISM FOR TRISOMY-18 IN AN INFANT WITH MULTIPLE CONGENITAL-ANOMALIES.” American Journal of Human Genetics 53, no. 3 (September 1, 1993): 627–627.
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  - SHASHI, V., M. A. LOVELL, and W. L. GOLDEN. “MALIGNANT RHABDOID TUMOR OF THE KIDNEY - INVOLVEMENT OF CHROMOSOME-22.” Cytogenetics and Cell Genetics 63, no. 4 (January 1, 1993): 257–257.
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- Book Sections
  - Shashi, V., and M. N. Berry. “Velocardiofacial syndrome (Chromosome 22q11.2 deletion syndrome) as a model of schizophrenia.” In Secondary Schizophrenia, 309–27, 2010. https://doi.org/10.1017/CBO9780511789977.025.
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- Conference Papers
  - Klöckner, Chiara, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, et al. “De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.” In Genet Med, 23:653–60, 2021. https://doi.org/10.1038/s41436-020-01020-w.
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  - Deisseroth, C. A., J. Birgmeier, E. E. Bodle, J. Kohler, D. Matalon, Y. Nazarenko, C. Genetti, et al. “CLINPHEN EXTRACTS AND PRIORITIZES PHENOTYPES FROM MEDICAL RECORDS TO ACCELERATE GENOMIC DIAGNOSIS.” In Journal of Investigative Medicine, 67:179–179. BMJ PUBLISHING GROUP, 2019. https://doi.org/10.1136/jim-2018-000939.262.
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  - Niarchou, Maria, Jacob Vorstman, Maude Schneider, Stephan Eliez, Marco Armando, Donna McDonald-McGinn, Carrie Bearden, et al. “EXAMINING ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD) INATTENTION SYMPTOMS AS ANTECEDENTS OF PSYCHOSIS RISK IN 22Q11.2 DELETION SYNDROME (22Q11.2DS).” In European Neuropsychopharmacology, 29:S1012–S1012. Elsevier BV, 2019. https://doi.org/10.1016/j.euroneuro.2017.08.411.
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  - Richards, Jason, Marie McDonald, Allyn McConkie-Rosell, Vandana Shashi, and Mohamad Mikati. “Novel Phenotype of ATP1A3 Mutation Starting in Infancy.” In Neurology, Vol. 90. LIPPINCOTT WILLIAMS & WILKINS, 2018.
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  - Kwapil, T. R., V. Shashi, M. S. Keshavan, K. E. Lewandowski, and M. N. Berry. “Schizophrenic-like deficits in nonpsychotic children and adolescents with 22Q11 deletion syndrome.” In Schizophrenia Research, 60:83–84. Elsevier BV, 2003. https://doi.org/10.1016/s0920-9964(03)80635-7.
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  - Kap-Herr, C. G. von, M. J. Pettenati, and V. Shashi. “Further evidence of a tumor suppressor gene at 7q22 in malignant myeloid diseases.” In American Journal of Human Genetics, 71:199–199. UNIV CHICAGO PRESS, 2002.
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  - Shashi, V., M. N. Berry, and T. R. Kwapil. “A study of the neuropsychological manifestations in children with 22q11 deletion syndrome.” In American Journal of Human Genetics, 71:268–268. UNIV CHICAGO PRESS, 2002.
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  - Berry, M. N., and V. Shashi. “Further characterization of odontotrichomelic syndrome.” In American Journal of Human Genetics, 69:286–286. UNIV CHICAGO PRESS, 2001.
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