Sureni V. Mullegama

Biochemistry, Genetics and Molecular Biology

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 15 papers. Top paper: “The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder”.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

N/A

0.921DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.016

N/A

0.269DataRank · unranked

5 citations

Kaitlyn Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula +35 more

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Scientific Reports(2021)10.1038/s41598-021-90798-z

N/A

0DataRank · unranked

12 citations

Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman‐Englert +6 more

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

medRxiv(2023)10.1101/2023.12.21.23300383

N/A

0DataRank · unranked

4 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +22 more

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.003

N/A

0DataRank · unranked

10 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +29 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

Brain(2025)10.1093/brain/awaf035

N/A

0DataRank · unranked

9 citations

Sharayu Jangam, Martin MC Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano +24 more

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

Science Translational Medicine(2025)10.1126/scitranslmed.adr0024

N/A

0DataRank · unranked

3 citations

Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, David Báez-Nieto +14 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

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.12.004

N/A

0DataRank · unranked

1 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa S. Rajan, Senta Schönnagel +53 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695

N/A

0DataRank · unranked

2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities

medRxiv(2025)10.1101/2025.05.19.25327541

N/A

0DataRank · unranked

1 citations

Caleb Yang, Carolyn Le, Amanda M. Elashoff, Kendall C. Parks, Clare Bakker +18 more

EIF3F -related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum

(2020)10.22541/au.160253804.44054844/v1

N/A

0DataRank · unranked

0 citations

Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary‐Alice Abbott, Syed A. Ahmed +34 more

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.04.23.650298

N/A

0DataRank · unranked

0 citations

Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, David Báez-Nieto +11 more

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Nature Communications(2021)10.1038/s41467-021-24852-9

N/A

0DataRank · unranked

89 citations

Casey Griffin, Carrie L. Heike, Anne Hing, Michael L. Cunningham, David Chitayat +24 more