Vandana Shashi

Vandana Shashi

UNVERIFIED PROFILE

Are you Vandana Shashi?   Register this Author

Register author
Vandana Shashi

Vandana Shashi

Publications by authors named "Vandana Shashi"

Are you Vandana Shashi?   Register this Author

79Publications

2410Reads

25Profile Views

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

Clin Genet 2019 Aug 25. Epub 2019 Aug 25.

Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13635DOI Listing
August 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Hypogyrification and its association with cognitive impairment in children with 22q11.2 deletion Syndrome: A preliminary report.

Psychiatry Res Neuroimaging 2019 Mar 31;285:47-50. Epub 2019 Jan 31.

Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pscychresns.2019.01.007DOI Listing
March 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

View Article

Download full-text PDF

Source
http://www.nejm.org/doi/10.1056/NEJMoa1714458
Publisher Site
http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

J Genet Couns 2018 08 2;27(4):935-946. Epub 2018 Jan 2.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-017-0193-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028305PMC
August 2018

Completing the puzzle: The search for pieces in the understanding of psychosis risk in 22q11.2 deletion syndrome.

Schizophr Res 2017 10 30;188:33-34. Epub 2017 Jul 30.

Department of Pediatrics, Duke University Medical Center, Durham, NC, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.schres.2017.07.040DOI Listing
October 2017

The importance of dynamic re-analysis in diagnostic whole exome sequencing.

J Med Genet 2017 03 29;54(3):155-156. Epub 2016 Nov 29.

Institute for Genomic Medicine, Columbia University, New York, New York, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-104306DOI Listing
March 2017

Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome.

J Child Neurol 2017 01 4;32(1):94-99. Epub 2016 Oct 4.

1 Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073816670813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852670PMC
January 2017

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

J Genet Couns 2016 10 12;25(5):1019-31. Epub 2016 Feb 12.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103757, Durham, NC, 27710, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-016-9933-1DOI Listing
October 2016

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 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 2016

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.

J Genet Couns 2016 Feb 18;25(1):6-17. Epub 2015 Nov 18.

Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-015-9910-0DOI Listing
February 2016

Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome.

J Genet Couns 2015 Oct 27;24(5):752-9. Epub 2014 Dec 27.

University of North Carolina-Greensboro, Greensboro, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-014-9806-4DOI Listing
October 2015

Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome.

Res Dev Disabil 2013 Sep 7;34(9):2606-13. Epub 2013 Jun 7.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ridd.2013.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724343PMC
September 2013

A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome.

Res Dev Disabil 2013 May 16;34(5):1758-69. Epub 2013 Mar 16.

Department of Psychiatry and The Carolina Institute for Developmental Disabilities, University of North Carolina School of Medicine, CB# 7255, Chapel Hill, NC 27599-7255, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08914222120032
Publisher Site
http://dx.doi.org/10.1016/j.ridd.2012.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783943PMC
May 2013

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

J Genet Couns 2012 Dec 31;21(6):835-44. Epub 2012 Aug 31.

Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10897-012-9535-5
Publisher Site
http://dx.doi.org/10.1007/s10897-012-9535-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508376PMC
December 2012

Safety of L-proline as a stabilizer for immunoglobulin products.

Expert Rev Clin Immunol 2012 Feb;8(2):169-78

Division of Allergic Diseases, Department of Medicine, Mayo Clinic, 200 First Street S.W., Rochester, MN 55905, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1586/eci.11.97DOI Listing
February 2012

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

Am J Med Genet A 2011 Sep 10;155A(9):2186-95. Epub 2011 Aug 10.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34226DOI Listing
September 2011

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

Eur J Med Genet 2011 Jan-Feb;54(1):63-6. Epub 2010 Sep 29.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27712, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2010.09.004DOI Listing
June 2011

Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome.

Asian J Psychiatr 2011 Jun;4(2):119-124

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC., USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajp.2011.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129857PMC
June 2011

The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome.

Laryngoscope 2011 Apr 8;121(4):732-7. Epub 2011 Feb 8.

Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carlolina 27710, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/lary.21449DOI Listing
April 2011

Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Muscle Nerve 2010 Dec;42(6):975-9

Swami Clinic, Jayam Diabetic Center, Nalladai Road, Sembanarkoil, Nagai Dt., Tamilnadu 609309, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.21823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5506871PMC
December 2010

COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome.

Psychiatry Res 2010 Jul 20;178(2):433-6. Epub 2010 May 20.

Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carolina 27710, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.psychres.2010.04.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645485PMC
July 2010

Case report: aplasia of the lacrimal and major salivary glands (ALSG).

Int J Pediatr Otorhinolaryngol 2009 Jun 18;73(6):899-901. Epub 2009 Apr 18.

Department of Otolaryngology/Head & Neck Surgery, Wake Forest University School of Medicine, 4th Floor, Watlington Hall, Winston Salem, NC 27157, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2009.03.004DOI Listing
June 2009

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

Eur J Hum Genet 2007 Mar 10;15(3):379-82. Epub 2007 Jan 10.

The Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201762DOI Listing
March 2007

Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome.

Am J Med Genet B Neuropsychiatr Genet 2007 Jan;144B(1):27-36

Department of Psychology, University of North Carolina at Greensboro, Greensboro, North Carolina 27401, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30379DOI Listing
January 2007

Mosaicism for an FMR1 gene deletion in a fragile X female.

Am J Med Genet A 2005 Jul;136(2):214-7

Department of Pathology & Laboratory Medicine, The University of North Carolina at Chapel Hill, 27599, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30807DOI Listing
July 2005

Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome.

Neuroimage 2004 Apr;21(4):1399-406

Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuroimage.2003.12.004DOI Listing
April 2004

Vasomotor instability in neonates with chromosome 22q11 deletion syndrome.

Am J Med Genet A 2003 Sep;121A(3):231-4

Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20219DOI Listing
September 2003

Ectodermal dysplasia: otolaryngologic manifestations and management.

Laryngoscope 2002 Jun;112(6):962-7

Department of Otolaryngology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00005537-200206000-00005DOI Listing
June 2002

A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome.

Am J Med Genet 2002 Mar;108(3):205-8

Department of Pediatrics, Sections on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10264DOI Listing
March 2002