Siddharth Banka
Manchester University
H-index: 50
North America-United States
Top articles of Siddharth Banka
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Analysis of higher order interactions quantifies co-ordination in the epigenome and reveals novel biological relationships in Kabuki syndrome | bioRxiv | Sara Cuvertino Terence Garner Evgenii Martirosian Bridgious Walusimbi Susan J Kimber | 2024 |
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features | Human Genetics and Genomics Advances | Morad Ansari Kamli NW Faour Akiko Shimamura Graeme Grimes Emeline M Kao | 2024/4/11 |
P09. 039. C Refining pathogenic RAC1 switch II variants | European Journal of Human Genetics | Hebah Althebaiti Siddharth Banka Tom H Millard | 2024/1/8 |
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 | Franziska Schnabel Elisabeth Schuler Almundher Al-Maawali Ankur Chaurasia Steffen Syrbe | 2024/1 |
Systematic reanalysis of copy number losses of uncertain clinical significance | Journal of Medical Genetics | George J Burghel Jamie M Ellingford Ronnie Wright Lauren Bradford Jake Miller | 2024/4/11 |
P11. 010. B Zebrafish models of complex hereditary spastic paraplegia caused by variants in the Kennedy pathway gene, PCYT2 | European Journal of Human Genetics | Rebecca Yarwood Martin Lowe Anna Nicolaou Siddharth Banka | 2024/1/8 |
KMT2C pathogenic variants result in a neurodevelopmental disorder with distinct clinical and DNA methylation features | European Journal of Human Genetics | Dmitrijs Rots Sanaa Choufani Victor Faundes Alexander Dingemans Lisenka Vissers | 2024/1 |
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt | The American Journal of Human Genetics | James L Shepherdson Katie Hutchison Dilan Wellalage Don George McGillivray Tae-Ik Choi | 2024/2/5 |
P21. 006. B Cell organization and organ development defects in Kabuki-KMT2D mutant stem cells | European Journal of Human Genetics | Sara Cuvertino Evgenii Martirosian Terence Garner Ian Donaldson Adam Stevens | 2024/1/8 |
Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy | European Journal of Human Genetics | Rob Harkness John McDermott Kay Metcalfe William Macken Ataf Sabir | 2024/1 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
P21. 005. A CHD8 missense variants cause a variable neurodevelopmental disorder with incomplete penetrance | European Journal of Human Genetics | Molly Godfrey Michael Levy Emanuela Leonardi Christopher Campbell Leigh Demain | 2024/1/8 |
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome | The American Journal of Human Genetics | Vincenzo Salpietro Reza Maroofian Maha S Zaki Jamie Wangen Andrea Ciolfi | 2024/1/4 |
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases | Genetics in Medicine | Jennifer Kerkhof Cassandra Rastin Michael A Levy Raissa Relator Haley McConkey | 2024/1/18 |
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles | Human Genetics and Genomics Advances | Sadegheh Haghshenas Hidde J Bout Josephine M Schijns Michael A Levy Jennifer Kerkhof | 2024/7/18 |
EP20. 009 Population genomics and evolutionary gene order preservation elucidate major differences between cytoplasmic actin isoforms on genomic level | European Journal of Human Genetics | A Rump S Banka N Di Donato | 2023/5/11 |
Germline intergenic duplications at Xq26. 1 cause an inherited basal cell carcinoma susceptibility syndrome | European Journal of Human Genetics | Yanshan Liu Siddharth Banka Yingzhi Huang Jonathan Hardman Derek Pye | 2023/5/11 |
P21. 024. D Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders | European Journal of Human Genetics | M Levy R Relator H McConkey E Pranckeviciene J Kerkhof | 2023/5/11 |
Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases | JOURNAL OF CLINICAL EPIDEMIOLOGY | Andrada Ciuca Siddharth Banka William G Newman Ramona Moldovan Jamie J Kirkham | 2023/9/1 |
692 Analysis of small chromosomal deletions affecting regulatory elements as a cause of childhood-onset monogenic disorders | Sweatha Ananthalingam Adam Jackson Siddharth Banka | 2023/7/1 |
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