Vandana Shashi

Pacific Northwest Diabetes Research Institute

Also affiliated with Duke University, Rambam Health Care Campus, Southwestern Medical Center, Duke Medical Center, Pediatrics and Genetics, The University of Texas Southwestern Medical Center

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 7%percentile

0.165Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Papers

Driven by 50 papers — median percentile 30. Top paper: “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations”.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

1.3DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

1.2DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.22

N/A

0.821DataRank · unranked

238 citations

Vandana Shashi, Matthew Bainbridge, Michael J. Gambello, Thomas Bast, Rebecca Crimian +29 more

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Genetics in Medicine(2020)10.1038/s41436-020-0781-x

N/A

0.568DataRank · unranked

43 citations

Queenie K.‐G. Tan, Nicholas Stong, Kristen Deak, Allyn McConkie‐Rosell, Marie McDonald +4 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.014

N/A

0.546DataRank · unranked

37 citations

Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson +57 more

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011

N/A

0.483DataRank · unranked

24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.001

N/A

0.406DataRank · unranked

14 citations

Maria Carla Borroto, Sadegheh Haghshenas, A Namasivayam, Jack Reilly, Michael A. Levy +61 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Journal of Genetic Counseling(2021)10.1002/jgc4.1451

N/A

0.241DataRank · unranked

4 citations

Kelly Schoch, Jennifer A. Sullivan, Rebecca C. Spillmann, Heidi Cope, Queenie K.‐G. Tan +5 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

A second hotspot for pathogenic exon-skipping variants in CDC45

European Journal of Human Genetics(2024)10.1038/s41431-024-01583-1

N/A

0.165DataRank · unranked

2 citations

Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele‐Scholz +10 more

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Correction: Corrigendum: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.61

N/A

0.136DataRank · unranked

1 citations

Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast +28 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

medRxiv(2022)10.1101/2022.08.23.22278845

N/A

0DataRank · unranked

0 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Levesque +80 more

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.09.30.507111

N/A

0DataRank · unranked

0 citations

Yujue Wang, Lijie Shi, Donna M. McDonald‐McGinn, T. Blaine Crowley, Daniel E. McGinn +45 more

Exome/Genome Sequencing in Undiagnosed Syndromes

Annual Review of Medicine(2023)10.1146/annurev-med-042921-110721

N/A

0DataRank · unranked

56 citations

Kelly Schoch, Rebecca C. Spillmann, Vandana Shashi, Jennifer A. Sullivan

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013

N/A

0DataRank · unranked

43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 more

Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

Journal of Genetic Counseling(2023)10.1002/jgc4.1707

N/A

0DataRank · unranked

13 citations

Rebecca C. Spillmann, Kelly Schoch, Jennifer A. Sullivan, Nicole Walley, Marie McDonald +4 more

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

npj Genomic Medicine(2023)10.1038/s41525-023-00363-y

N/A

0DataRank · unranked

12 citations

Yujue Wang, Lijie Shi, Donna M. McDonald‐McGinn, T. Blaine Crowley, Daniel E. McGinn +47 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-023-02891-3

N/A

0DataRank · unranked

5 citations

Allyn McConkie‐Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Undiagnosed Diseases Network +5 more

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more

A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion

Science Translational Medicine(2024)10.1126/scitranslmed.adk0845

N/A

0DataRank · unranked

12 citations

Amy P. Hsu, Andrew J. Oler, Dhaneshwar Kumar, Daniel Chauss, Jan Piet van Hamburg +44 more

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Nature Communications(2024)10.1038/s41467-024-52095-x

N/A

0DataRank · unranked

9 citations

Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan +53 more

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

Human Molecular Genetics(2024)10.1093/hmg/ddae166

N/A

0DataRank · unranked

8 citations

Chian Ju Jong, Ronald A. Merrill, Grace J Kollman, Austin H Paden, Eric G. Bend +10 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature Communications(2024)10.1038/s41467-024-51310-z

N/A

0DataRank · unranked

5 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Lévesque +80 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

UNC Libraries(2024)10.17615/43a6-jz46

N/A

0DataRank · unranked

1 citations

Jennifer A. Sullivan, Ronald A. Merrill, Rolph Pfundt, Louise S. Bicknell, Priyanka Sandal +10 more

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63798

N/A

0DataRank · unranked

0 citations

Kelly Schoch, Alden Huang, Hane Lee, Lee-kai Wang, Edward C. Smith +7 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 more

Phenotypic expansion of CALM1/2 -associated disorders to include neurologic phenotypes without arrhythmia

Human Molecular Genetics(2025)10.1093/hmg/ddaf195

N/A

0DataRank · unranked

0 citations

Rebecca C. Spillmann, David A. Wenger, Maria Giovanna Tedesco, Malene Brohus, Antonio Novelli +24 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1397

N/A

0DataRank · unranked

25 citations

Rebecca C. Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch +17 more

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5

N/A

0DataRank · unranked

18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 more

Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation

Epileptic Disorders(2020)10.1684/epd.2020.1127

N/A

0DataRank · unranked

9 citations

Jason Richards, Marie McDonald, Allyn McConkie‐Rosell, Nicholas Stong, Joan Jasien +3 more

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61518

N/A

0DataRank · unranked

37 citations

Rebecca C. Spillmann, Daniel Wegner, Jennifer Wambach, Frances V. White, Kathleen Sisco +6 more

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

UNC Libraries(2020)10.17615/86qc-4989

N/A

0DataRank · unranked

0 citations

Thomas Werge, Anders Vangkilde, Koenraad Devriendt, Carolyn Chow, Carrie E. Bearden +27 more

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

UNC Libraries(2020)10.17615/kq36-vx92

N/A

0DataRank · unranked

0 citations

Stephen R. Hooper, Vandana Shashi, Allen W. Song, Matcheri S. Keshavan, Waverly Harrell +2 more

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human Genetics(2021)10.1007/s00439-021-02283-2

N/A

0DataRank · unranked

36 citations

Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person +40 more

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features

Human Molecular Genetics(2021)10.1093/hmg/ddab110

N/A

0DataRank · unranked

29 citations

Kelly Schoch, Sharayu Jangam, Venkata Hemanjani Bhavana, Hillary K. Graves, Sujay Kansagra +11 more

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations

Epilepsy & Behavior(2021)10.1016/j.yebeh.2020.107732

N/A

0DataRank · unranked

28 citations

David M. Mueller, Milton Pratt, Melanie Bonner, Courtney Elliott, Arsen Hunanyan +9 more

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62347

N/A

0DataRank · unranked

20 citations

Alejandro Ferrer, Carla Nishimura, Filippo Pinto e Vairo, Tristan Rey, Bruno Leheup +27 more

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1665

N/A

0DataRank · unranked

18 citations

Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole L. Hoppman, Cherisse A. Marcou +8 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

Vandana Shashi

Indexed papers

Top data-sharing exemplar

Papers