Siddharth Srivastava

Also affiliated with Maulana Azad Medical College, Neurology, Inc

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 2%percentile

2.4Author DataRank

Indexed papers

5in 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 5 indexed papers 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.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

European Journal of Human Genetics(2023)10.1038/s41431-023-01445-2

Top 34%

0.579DataRank

Top 34%20 citations

Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke +50 more

Papers

Driven by 45 papers — median percentile 62. Top paper: “SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia”.

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

Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.01.006

N/A

0.945DataRank · unranked

21 citations

Siddharth Srivastava, Anna K. Prohl, Benoît Scherrer, Kush Kapur, Rajna Filip‐Dhima +16 more

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

Human Molecular Genetics(2022)10.1093/hmg/ddac111

N/A

0.908DataRank · unranked

35 citations

Booil Jo, Bo Zhang, Thomas Frazier, Anne Gallagher, Fleming Peck +13 more

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Human Molecular Genetics(2021)10.1093/hmg/ddab280

N/A

0.637DataRank · unranked

69 citations

Jennifer H. Foss‐Feig, Catalina Betancur, Paige M. Siper, María del Pilar Trelles-Thorne, Danielle Halpern +14 more

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

European Journal of Human Genetics(2023)10.1038/s41431-023-01445-2

Top 34%

0.579DataRank

Top 34%20 citations

Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke +50 more

Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in Medicine(2023)10.1016/j.gim.2023.101035

Top 35%

0.557DataRank

Top 35%11 citations

Juliann M. Savatt, Taylor I. Bingaman, Molly Good, Alexis Morgan, Caitlin Cooney +37 more

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

Journal of Medical Genetics(2024)10.1136/jmg-2023-109702

Top 38%

0.503DataRank

Top 38%16 citations

Milou G. P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth E. Palmer +12 more

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52046

N/A

0.396DataRank · unranked

13 citations

Sarah Baitamouni, Darren Liu, Robyn M. Busch, Patricia Klaas, Thomas Frazier +10 more

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome

Clinical Genetics(2025)10.1111/cge.14697

Top 47%

0.390DataRank

Top 47%9 citations

Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn, Sonia Ballal +11 more

The Brain Gene Registry: a data snapshot

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09530-3

Top 48%

0.373DataRank

Top 48%11 citations

Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta +58 more

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51506

N/A

0DataRank · unranked

82 citations

Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz +34 more

Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Movement Disorders(2022)10.1002/mds.29225

N/A

0DataRank · unranked

21 citations

Afshin Saffari, Melanie Kellner, Marion Döbler‐Neumann, Catherine Jordan, Siddharth Srivastava +13 more

De novovariants cause complex symptoms in HSP-ATL1(SPG3A) and uncover genotype–phenotype correlations

Human Molecular Genetics(2022)10.1093/hmg/ddac182

N/A

0DataRank · unranked

18 citations

Afshin Saffari, Catherine Jordan, Siddharth Srivastava, Craig Blackstone, Darius Ebrahimi‐Fakhari +1 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

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

Journal of Neurodevelopmental Disorders(2022)10.1186/s11689-022-09434-0

N/A

0DataRank · unranked

8 citations

Siddharth Srivastava, Youssef A. Kousa, Rima Izem, Marcin Gierdalski, Dong‐Kyu Kim +11 more

Updated consensus guidelines on the management of Phelan–McDermid syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63312

N/A

0DataRank · unranked

49 citations

Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Soorya, Audrey Thurm +40 more

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change

Journal of Neurodevelopmental Disorders(2023)10.1186/s11689-022-09468-4

N/A

0DataRank · unranked

11 citations

Thomas Frazier, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava +5 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link

EP Europace(2023)10.1093/europace/euae003

N/A

0DataRank · unranked

7 citations

Tanja Zdolšek Draksler, Arianne Bouman, Joost Kummeling, Matthew T. Wheeler, Chloe Reuter +9 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrum

Clinical Genetics(2023)10.1111/cge.14353

N/A

0DataRank · unranked

6 citations

Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Faivre +38 more

Clinical actionability of genetic findings in cerebral palsy

medRxiv(2023)10.1101/2023.09.08.23295195

N/A

0DataRank · unranked

4 citations

Maya Chopra, Julie S. Cohen, Jennifer Bain, Bhooma R. Aravamuthan, Jason B. Carmel +10 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 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

0DataRank · unranked

13 citations

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

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51942

N/A

0DataRank · unranked

9 citations

Dustin L. Gable, Zoë Frazier, Abigail Sveden, Aisling Quinlan, Maya Chopra +5 more

Label-free single-vesicle based surface enhanced Raman spectroscopy: A robust approach for investigating the biomolecular composition of small extracellular vesicles

PLoS ONE(2024)10.1371/journal.pone.0305418

N/A

0DataRank · unranked

9 citations

Martin Ng, Siddharth Srivastava, Tieyi Li, Jun Liu, Tuan Anh Phu +7 more

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Annals of Neurology(2024)10.1002/ana.27045

N/A

0DataRank · unranked

8 citations

Jordan J. Cole, Julie S. Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A. Deardorff +8 more

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09541-0

N/A

0DataRank · unranked

7 citations

Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip‐Dhima +13 more

Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures

Journal of Child Neurology(2024)10.1177/08830738241248685

N/A

0DataRank · unranked

6 citations

Fanghan Yang, Anna K. Prohl, Peter E. Davis, Jamie K. Capal, Rajna Filip‐Dhima +9 more

AI-Driven Spectral Decomposition: Predicting the Most Probable Protein Compositions from Surface Enhanced Raman Spectroscopy Spectra of Amino Acids

Bioengineering(2024)10.3390/bioengineering11050482

N/A

0DataRank · unranked

4 citations

Nehmat Sandhu, Jun Liu, Ya‐Hong Xie, Siddharth Srivastava

Cerebral Palsy Phenotypes in Genetic Epilepsies

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.05.016

N/A

0DataRank · unranked

1 citations

Hyun Yong Koh, Lacey Smith, Annapurna Poduri, Christelle Moufawad El Achkar, Ann Bergin +13 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63872

N/A

0DataRank · unranked

0 citations

Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip‐Dhima, Aisling Quinlan +17 more

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

medRxiv(2024)10.1101/2024.02.22.24302957

N/A

0DataRank · unranked

0 citations

Jordan J. Cole, Julie S. Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A. Deardorff +8 more

Int22h1/Int22h2 ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Human Mutation(2020)10.1002/humu.24009

N/A

0DataRank · unranked

19 citations

Cheryl Dickerson, Myra Wick, Najla Al‐Sweel, Amanda Openshaw, Siddharth Srivastava +10 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome

Journal of Autism and Developmental Disorders(2020)10.1007/s10803-020-04617-x

N/A

0DataRank · unranked

11 citations

Bennett W. Clark, Colleen Landy‐Schmitt, Elizabeth A. Offermann, Antonie D. Kline, Samuel T. Wilkinson +2 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622

N/A

0DataRank · unranked

0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement

Clinical Genetics(2021)10.1111/cge.14027

N/A

0DataRank · unranked

55 citations

Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian +15 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2021)10.1186/s11689-021-09398-7

N/A

0DataRank · unranked

12 citations

Emma Condy, Erin Carmody, Rajna Filip‐Dhima, Kush Kapur, Jonathan A. Bernstein +14 more

Psychiatric Characteristics Across Individuals With PTEN Mutations

Frontiers in Psychiatry(2021)10.3389/fpsyt.2021.672070

N/A

0DataRank · unranked

17 citations

Mirko Uljarević, Gaëlle Rached, Thomas Frazier, Jennifer M. Phillips, Robin A. Libove +8 more

Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations

Journal of Autism and Developmental Disorders(2021)10.1007/s10803-021-04881-5

N/A

0DataRank · unranked

14 citations

Thomas Frazier, Gaëlle Rached, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava +5 more

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1809

N/A

0DataRank · unranked

14 citations

Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott +40 more

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62458

N/A

0DataRank · unranked

7 citations

Thomas Frazier, Gaëlle Rached, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava +5 more

Siddharth Srivastava

Indexed papers

Top data-sharing exemplar

Papers