Siddharth Banka
Manchester University
H-index: 50
North America-United States
Top articles of Siddharth Banka
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Genetics in Medicine
2024/1/18
P09. 039. C Refining pathogenic RAC1 switch II variants
European Journal of Human Genetics
2024/1/8
Siddharth Banka
H-Index: 33
P11. 010. B Zebrafish models of complex hereditary spastic paraplegia caused by variants in the Kennedy pathway gene, PCYT2
European Journal of Human Genetics
2024/1/8
Anna Nicolaou
H-Index: 6
Siddharth Banka
H-Index: 33
P21. 006. B Cell organization and organ development defects in Kabuki-KMT2D mutant stem cells
European Journal of Human Genetics
2024/1/8
P21. 005. A CHD8 missense variants cause a variable neurodevelopmental disorder with incomplete penetrance
European Journal of Human Genetics
2024/1/8
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Human Genetics and Genomics Advances
2024/7/18
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
The American Journal of Human Genetics
2024/1/4
Reza Maroofian
H-Index: 16
Stephanie Efthymiou
H-Index: 14
Majid Mojarrad
H-Index: 14
Khalil Ur Rehman
H-Index: 3
Atieh Eslahi
H-Index: 4
Enrico Bugiardini
H-Index: 16
Pierangelo Veggiotti
H-Index: 31
Viorica Chelban
H-Index: 13
Roisin Sullivan
H-Index: 8
Shahnaz Ibrahim
H-Index: 2
Shen-Yang Lim
H-Index: 25
Farooq Shaikh
H-Index: 2
Pietro Ferrara
H-Index: 12
Massimo Zollo
H-Index: 28
Cleanthe Spanaki
H-Index: 15
Chiara Fiorillo
H-Index: 20
Eugenio Gaudio
H-Index: 59
Rita Maccarone
H-Index: 14
Marco Seri
H-Index: 33
Antonino Cattaneo
H-Index: 33
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Human Genetics and Genomics Advances
2024/4/11
Analysis of higher order interactions quantifies co-ordination in the epigenome and reveals novel biological relationships in Kabuki syndrome
bioRxiv
2024
Siddharth Banka
H-Index: 33
Systematic reanalysis of copy number losses of uncertain clinical significance
Journal of Medical Genetics
2024/4/11
Siddharth Banka
H-Index: 33
Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
European Journal of Human Genetics
2024/1
KMT2C pathogenic variants result in a neurodevelopmental disorder with distinct clinical and DNA methylation features
European Journal of Human Genetics
2024/1
Siddharth Banka
H-Index: 33
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
The American Journal of Human Genetics
2024/2/5
Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy
European Journal of Human Genetics
2024/1
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Genetics in medicine
2024/2/1
Bhaskar Roy
H-Index: 11
Krishna Iyer
H-Index: 3
Siddharth Banka
H-Index: 33
Ying Hu
H-Index: 10
William Wilson
H-Index: 8
Caroline Clark
H-Index: 3
Nicola Cooper
H-Index: 35
Helen Cox
H-Index: 40
Derek Lim
H-Index: 2
Swati Naik
H-Index: 3
Alison Hills
H-Index: 11
Karen Low
H-Index: 6
Evan Reid
H-Index: 26
Marc Tischkowitz
H-Index: 54
Andrew Green
H-Index: 21
Jonathan Berg
H-Index: 6
Andrew Jackson
H-Index: 7
David Moore
H-Index: 14
Nicola Williams
H-Index: 1
Wendy Jones
H-Index: 7
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects
British Journal of Dermatology
2023/1
Lu Liu
H-Index: 35
Siddharth Banka
H-Index: 33
Germline intergenic duplications at Xq26. 1 cause an inherited basal cell carcinoma susceptibility syndrome
European Journal of Human Genetics
2023/5/11
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
The American Journal of Human Genetics
2023/11/2
Yan Huang
H-Index: 9
Xi Zhang
H-Index: 8
Siddharth Banka
H-Index: 33
Oguz Kanca
H-Index: 10
Shinya Yamamoto
H-Index: 29
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Genetics in Medicine
2023/4/1
Siddharth Banka
H-Index: 33
Yannis Duffourd
H-Index: 23
Christian Gilissen
H-Index: 58
Alexander Hoischen
H-Index: 56
Simone Pizzi
H-Index: 10
Francesca Clementina Radio
H-Index: 9
Michele Pinelli
H-Index: 22
Olaf Riess
H-Index: 50
Fei Gao
H-Index: 40
Rita Horvath
H-Index: 47
Mridul Johari
H-Index: 7
Shuang Li
H-Index: 3
Peter Robinson
H-Index: 16
Jana Vandrovcova
H-Index: 26
Christoph Kessler
H-Index: 13
Hans Scheffer
H-Index: 39
Colin Veal
H-Index: 14
Spencer Gibson
H-Index: 32
Mehdi Mehtarizadeh
H-Index: 1
Volker Straub
H-Index: 56
Sophie Hambleton
H-Index: 39
Gulcin Gumus
H-Index: 10
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Human genomics
2023/5/3
Co-Authors
