Skip to Main Content

Author Details

Vandana Shashi
Duke University School of Medicine
1994
142
41
PMIDPaper TitleJournal TitlePublished Year
37962958Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest2024
36481303A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.Genet Med2023
37667351Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.Orphanet J Rare Dis2023
37191094Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.Genet Med2023
37467750Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.Am J Hum Genet2023
37005744Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.J Genet Couns2023
36724785Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.Am J Hum Genet2023
36706750Exome/Genome Sequencing in Undiagnosed Syndromes.Annu Rev Med2023
34115423Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.J Genet Couns2022
35737950Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.Brain2022
35405010The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.Hum Mol Genet2022
36130591An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.Am J Hum Genet2022
33782512A normative chart for cognitive development in a genetically selected population.Neuropsychopharmacology2022
35300924Expanding the phenotypic spectrum of ARCN1-related syndrome.Genet Med2022
35108495Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.Am J Hum Genet2022
35051358Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.Am J Hum Genet2022
32901138A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.Eur J Hum Genet2021
33493807Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.Epilepsy Behav2021
33927380Next-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 Med2021
33508234De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.Am J Hum Genet2021
33864376Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.Hum Mol Genet2021
33942428Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.Hum Mutat2021
34042254TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.Am J Med Genet A2021
33955715Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.Mol Genet Genomic Med2021
34003604De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.Am J Med Genet A2021
33944996Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.Hum Genet2021
32015465Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.Mol Psychiatry2021
33106617The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.Genet Med2021
31550240SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.J Clin Invest2020
31870554Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.Am J Hum Genet2020
32083401Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.Am J Med Genet A2020
32043468Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.Epileptic Disord2020
32802951D-DEMÿ, a distinct phenotype caused by <i>ATP1A3</i> mutations.Neurol Genet2020
32730690Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Mol Genet Genomic Med2020
32445275A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.Am J Med Genet A2020
32366967Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.Genet Med2020
30580808Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.Am J Hum Genet2019
31884517Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.Hum Mol Genet2019
29907797A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.Genet Med2019
30093352Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome.Schizophr Res2019
31353023De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.Am J Hum Genet2019
31177578Autism and developmental disability caused by KCNQ3 gain-of-function variants.Ann Neurol2019
31264822Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.Hum Mutat2019
31402090De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.Am J Hum Genet2019
31448412The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.Clin Genet2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
30743074Hypogyrification and its association with cognitive impairment in children with 22q11.2 deletion Syndrome: A preliminary report.Psychiatry Res Neuroimaging2019
30827496Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.Am J Hum Genet2019
30514889ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.Genet Med2019
28914269Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.Genet Med2018
  • 1 - 50 of 142

Recommended Authors

Donders Institute for Brain, Radboud University Medical Center
Career Start Year 2017
Number of shared co-authors 19
Johns Hopkins University School of Medicine
Career Start Year 2012
Number of shared co-authors 17
Pediatric Academic Clinical Programme, Duke-NUS Medical School
Career Start Year 2010
Number of shared co-authors 11
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Career Start Year 2009
Number of shared co-authors 16
Guy's Hospital
Career Start Year 2006
Number of shared co-authors 44
Boston Children's Hospital
Career Start Year 2005
Number of shared co-authors 18
Acibadem Mehmet Ali Aydinlar University
Career Start Year 2005
Number of shared co-authors 44
Haukeland University Hospital
Career Start Year 2004
Number of shared co-authors 23
Nationwide Children's Hospital, The Ohio State University College of Medicine
Career Start Year 2003
Number of shared co-authors 20
Donders Institute for Brain, Radboud University Medical Center
Career Start Year 2002
Number of shared co-authors 34
Memorial University of Newfoundland
Career Start Year 1999
Number of shared co-authors 25
University of British Columbia
Career Start Year 1998
Number of shared co-authors 3
University of British Columbia
Career Start Year 1997
Number of shared co-authors 12
Radboud University Medical Center
Career Start Year 1996
Number of shared co-authors 20
University of Washington
Career Start Year 1996
Number of shared co-authors 27
Broad Institute of MIT and Harvard
Career Start Year 1995
Number of shared co-authors 46
Autism and Developmental Medicine Institute
Career Start Year 1995
Number of shared co-authors 30
Phoenix Children's Hospital
Career Start Year 1992
Number of shared co-authors 31
Guy's and St Thomas' NHS Foundation Trust
Career Start Year 1992
Number of shared co-authors 39
The University of Alabama at Birmingham School of Medicine
Career Start Year 1991
Number of shared co-authors 15
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 26
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Career Start Year 1990
Number of shared co-authors 37
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Career Start Year 1990
Number of shared co-authors 18
The Hospital for Sick Children
Career Start Year 1990
Number of shared co-authors 54
University College Dublin
Career Start Year 1989
Number of shared co-authors 47
Institute of Human Development, University of Manchester
Career Start Year 1988
Number of shared co-authors 42
University of Manchester
Career Start Year 1986
Number of shared co-authors 64
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Career Start Year 1984
Number of shared co-authors 50
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Career Start Year 1983
Number of shared co-authors 32
NYS Institute for Basic Research in Developmental Disabilities .
Career Start Year 1972
Number of shared co-authors 33

Collaborators

Duke University School of Medicine
Co-authored papers 60
University of North Carolina-Chapel Hill
Co-authored papers 32
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 23
Duke University School of Medicine
Co-authored papers 23
Duke University School of Medicine
Co-authored papers 23
Yale University School of Medicine
Co-authored papers 19
Duke University School of Medicine and Duke Health System
Co-authored papers 18
GenOmics and Translational Research Center
Co-authored papers 15
Duke University Medical Center
Co-authored papers 14
Duke University School of Medicine and Duke Health System
Co-authored papers 12
Duke University School of Medicine
Co-authored papers 10
Imperial College London
Co-authored papers 9
Children's Hospital of Philadelphia
Co-authored papers 8
Baylor College of Medicine
Co-authored papers 7
Stanford University
Co-authored papers 7
University of Pennsylvania Perelman School of Medicine
Co-authored papers 6
Baylor College of Medicine, TX Jan and Dan Duncan Neurological Research Institute
Co-authored papers 6
Baylor College of Medicine
Co-authored papers 6
Institute of Medical Science, University of Toronto
Co-authored papers 6
Co-authored papers 5
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4
university of california los angeles
Co-authored papers 4
Co-authored papers 4
University of North Carolina at Chapel Hill.
Co-authored papers 4
Vanderbilt University Medical Center
Co-authored papers 4
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4