Siddharth Banka

Also affiliated with Manchester University NHS Foundation Trust, St Mary's Hospital

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 33 papers. Top paper: “Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency”.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2019.12.007

N/A

0DataRank · unranked

114 citations

Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar +27 more

Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders

medRxiv(2020)10.1101/2020.09.24.20196097

N/A

0DataRank · unranked

0 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Nature Communications(2021)10.1038/s41467-021-21053-2

N/A

0DataRank · unranked

65 citations

Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino +19 more

Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment

Amino Acids(2021)10.1007/s00726-021-03023-6

N/A

0DataRank · unranked

43 citations

Rajesh Kumar Kar, Siddharth Banka, Alban Ziegler, Wendy K. Chung, Myung Hee Park

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00900-3

N/A

0DataRank · unranked

31 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.024

N/A

0DataRank · unranked

17 citations

Shabab B. Hannan, Sarah Dyack, Sara MacKay, Ulrich A. Schatz, Martin Fleger +41 more

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in Medicine(2021)10.1038/s41436-021-01218-6

N/A

0DataRank · unranked

17 citations

Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton +37 more

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Genetics in Medicine(2021)10.1016/j.gim.2021.10.014

N/A

0DataRank · unranked

4 citations

Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily Farrow, Isabelle Thiffault +35 more

KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.04.22.440945

N/A

0DataRank · unranked

13 citations

Alessandro Vitriolo, Sara Cuvertino, Marlene F. Pereira, Celeste Franconi, Pierre‐Luc Germain +21 more

A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.25.465762

N/A

0DataRank · unranked

6 citations

Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless +16 more

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

Science Advances(2022)10.1126/sciadv.abn2265

N/A

0DataRank · unranked

209 citations

Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless +16 more

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain(2022)10.1093/brain/awac330

N/A

0DataRank · unranked

32 citations

Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber +51 more

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

Human Genetics(2022)10.1007/s00439-022-02477-2

N/A

0DataRank · unranked

19 citations

Emre Kiziltug, Sheng Chih Jin, Carol Nelson‐Williams, Erin Loring, August Allocco +17 more

Critical role of PCYT2 in muscle health and aging

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.03.02.482658

N/A

0DataRank · unranked

4 citations

Kareem Elsayad, Erdinç Sezgin, Erika Koitai, Ferenc Torma, Michael Orthofer +33 more

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

medRxiv(2022)10.1101/2022.08.09.22278430

N/A

0DataRank · unranked

1 citations

Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang +48 more

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

Research Square(2022)10.21203/rs.3.rs-2121654/v1

N/A

0DataRank · unranked

0 citations

Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al‐Kindi +10 more

PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing

Nature Metabolism(2023)10.1038/s42255-023-00766-2

N/A

0DataRank · unranked

57 citations

Kareem Elsayad, Erdinç Sezgin, Erika Koitai, Ferenc Torma, Michael Orthofer +33 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5

N/A

0DataRank · unranked

23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009

N/A

0DataRank · unranked

13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 more

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023

N/A

0DataRank · unranked

11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Human Genetics(2023)10.1007/s00439-023-02528-2

N/A

0DataRank · unranked

6 citations

Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al‐Kindi +10 more

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222

N/A

0DataRank · unranked

6 citations

Maha S. Zaki, Mohammed Al‐Owain, Mansour Y. Otaif, Adam Jackson, Emanuela Argilli +41 more

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

medRxiv(2023)10.1101/2023.09.12.23295416

N/A

0DataRank · unranked

6 citations

Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Susan Walker +17 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

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.007

N/A

0DataRank · unranked

18 citations

Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan +51 more

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.007

N/A

0DataRank · unranked

7 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +34 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

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

medRxiv(2024)10.1101/2024.08.27.24312158

N/A

0DataRank · unranked

5 citations

Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew T. Oetjens +65 more

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

medRxiv(2024)10.1101/2024.08.19.24312079

N/A

0DataRank · unranked

2 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +35 more

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

Brain(2025)10.1093/brain/awaf212

N/A

0DataRank · unranked

3 citations

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

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103427

N/A

0DataRank · unranked

1 citations

Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao +25 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more