Somayeh Bakhtiari

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 20 papers. Top paper: “Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia”.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.015

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0DataRank · unranked

55 citations

Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger +41 more

Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Human Mutation(2020)10.1002/humu.24015

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0DataRank · unranked

40 citations

Katherine L. Helbig, Candace T. Myers, Marcello Scala, Robert Huether, Sara A. Lewis +40 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

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0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12378

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0DataRank · unranked

29 citations

Miao He, Andrew C. Edmondson, Earnest James Paul Daniel, Jie Chen, Tyhiesia Donald +21 more

Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability

Neurology Genetics(2021)10.1212/nxg.0000000000000602

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0DataRank · unranked

11 citations

Somayeh Bakhtiari, Jennifer Heim, Patricia Cornejo, James Liu, Aris J. Huang +6 more

Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy

Neurology Genetics(2021)10.1212/nxg.0000000000000583

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0DataRank · unranked

8 citations

Abbas Tafakhori, Sheng Chih Jin, Brandon S. Guida, Elham Alehabib, Saghar Firouzbadi +5 more

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Nature Communications(2022)10.1038/s41467-022-31566-z

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39 citations

Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim +35 more

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Human Molecular Genetics(2022)10.1093/hmg/ddac114

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17 citations

Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne‐Sophie Denommé‐Pichon, Boris Keren +43 more

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Brain(2022)10.1093/brain/awac074

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15 citations

J. Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg‐Didinger, Leila Motlagh Scholle +24 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

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0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

AGAP1-associated endolysosomal trafficking abnormalities link gene–environment interactions in neurodevelopmental disorders

Disease Models & Mechanisms(2023)10.1242/dmm.049838

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11 citations

Somayeh Bakhtiari, Jacob Forstrom, Allan Bayat, Frédéric Bilan, Gwenaël Le Guyader +5 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

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7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Brain(2023)10.1093/brain/awad301

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7 citations

Sara A. Lewis, Somayeh Bakhtiari, Sandra H. Nordlie, Alex M. Pagnozzi, Helen Magee +55 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1

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4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.31.526497

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2 citations

Somayeh Bakhtiari, Jacob Forstrom, Allan Bayat, Frédéric Bilan, Gwenaël Le Guyader +5 more

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

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3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5

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4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

Brain(2025)10.1093/brain/awaf212

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0DataRank · unranked

3 citations

M. Kathryn Barton, Katherine A. Lynch, Ashish R. Deshwar, Philip D. Campbell, Josephine Millard +49 more

Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64093

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0DataRank · unranked

2 citations

Chi Vicky Cheng, Stefano Giuseppe Caraffi, Ivan Ivanovski, Gianluca Piatelli, Edoardo Errichiello +29 more

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy

medRxiv(2025)10.1101/2025.11.04.25339178

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0DataRank · unranked

0 citations

Yung-Chun Wang, Peter T. Skidmore, Carolina I. Galaz-Montoya, Sara A. Lewis, Bader Alhaddad +52 more