Cara Skraban

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 13 papers. 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

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability

Developmental Biology(2023)10.1016/j.ydbio.2023.04.006

N/A

0.500DataRank · unranked

27 citations

Mehreen Pasha, María Elena Guerra, Stephen Viviano, Weidong Ji, Monica Konstantino +7 more

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63817

N/A

0.269DataRank · unranked

5 citations

Eden Yitna Teferedegn, Dong Li, Kayla Muirhead, Holly Dubbs, Jacqueline Leonard +12 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Genetics in Medicine(2023)10.1016/j.gim.2023.100863

N/A

0DataRank · unranked

6 citations

Ashish R. Deshwar, Harsha Murthy, Daniela D’Agostino, Lucie Dupuis, Balram Gangaram +19 more

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development

Molecular Syndromology(2023)10.1159/000530197

N/A

0DataRank · unranked

5 citations

Rebecca Ganetzky, Gerald Wertheim, Cara Skraban, Emma Bedoukian, Alisha Wilkens +7 more

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.016

N/A

0DataRank · unranked

10 citations

Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Martin Wendlandt +42 more

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

Human Genetics(2024)10.1007/s00439-024-02656-3

N/A

0DataRank · unranked

2 citations

Cara Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Alves, Sarah K. Fiordaliso +16 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61550

N/A

0DataRank · unranked

8 citations

Petra Werner, Brande Latney, Bryon L. Krock, Avni Santani, Emma Bedoukian +4 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more