Siddharth Banka

9.6k citations

55 papers · 991 indexed · h-index 18

Impact in

Genetics top 5%
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Blood disorders and treatments
Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders

Papers in

Genetics 35
- Genomics and Rare Diseases 20
- Genomic variations and chromosomal abnormalities 18
- Genetics and Neurodevelopmental Disorders 7
- Blood disorders and treatments 6
Clinical Biochemistry 5
- Metabolism and Genetic Disorders 5

Co-authors: William G. Newman Helen Kingston A. Marshall Ioannis N. Petropoulos Hassan Fadavi Mitra Tavakoli Rayaz A. Malik Dian Donnai
Journals: European Journal of Human Genetics (3 papers)Journal of Medical Genetics (3 papers)Clinical Genetics (3 papers)Journal of Clinical Epidemiology (2 papers)Molecular Genetics and Metabolism (2 papers)
Partner nations: United Kingdom United States Netherlands

In The Last Decade

Siddharth Banka

50 papers receiving 974 citations

Peers

Countries citing papers authored by Siddharth Banka

Since Specialization

Citations

This map shows the geographic impact of Siddharth Banka's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Siddharth Banka with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Siddharth Banka more than expected).

Fields of papers citing papers by Siddharth Banka

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Siddharth Banka. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Siddharth Banka. The network helps show where Siddharth Banka may publish in the future.

Co-authors

The 25 scholars most cited alongside Siddharth Banka, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Siddharth Banka Line = papers co-authored together Siddharth Banka links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders European Journal of Human Genetics ·Dale Martin, Christopher Campbell, Fhergie Dwi Lestari Matasik, THARAKA WIJESINGHE, Awm Phillips, Leigh Demain, Sarah Jenkinson, Sarah K. Hilton, Michael A. Levy, Jennifer Kerkhof, David Gokhale, Bekim Sadiković, Siddharth Banka	2025	0
2	Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review American Journal of Medical Genetics Part A ·Sietse Aukema, W. Vangool, Emanuela Scarano, Himanshu Goel, S. Martinia, E. Yogeswaren, Koenraad Devriendt, Nitash Zwaveling‐Soonawala, C. Neuman, Alma Kuechler, Ilaria Parenti, Г.Н. Алимжанова, Elke de Boer, Siddharth Banka, 连广昌, Gholson J. Lyon, Karen Low, Joyce Geelen, Jaime Felipe Medina Sotomayor, Charlotte W. Ockeloen	2025	1
3	Exploring the benefits, harms and costs of genomic newborn screening for rare diseases Nature Medicine ·Emma L. Baple, Richard H. Scott, Siddharth Banka, James Buchanan, H. Çınar, Sarah Wynn, Dominic Wilkinson, Sian Ellard, Daniel G. MacArthur, Zornitza Stark	2024	8
4	Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond Genes ·Valeria Barili, Taha Gammoudi, Vera Uliana, Melissa Bellini, ولید أحمد سید أحمد, Davide Martorana, نوزاد محمد أحمد, Yeliz Hayran, Darwin Francisco Suasnavas-Flores, Deborah Jean Gill, Sarah K. Hilton, Siddharth Banka, Antonio Percesepe	2023	1
5	Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly Human Genetics ·Kaylee Chhua, Shigeru Okudera, Almundher Al‐Maawali, Zheng Xiaokun, Steffen Syrbe, Dilixiati Madiniyati, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Gökhan Yiğit	2023	1
6	Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases Journal of Clinical Epidemiology ·J. Montgomerie, Siddharth Banka, William G. Newman, Ramona Moldovan, Jamie J Kirkham	2023	0
7	Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D American Journal of Medical Genetics Part A ·Lusi Wulandari, Aurore Garde, Sandrine Marlin, Asael Rosas-García, Sylvain Ernest, Sophie Nambot, Yannis Duffourd, 马阿丽, C. Duvillard, Siddharth Banka, Christophe Philippe, Christel Thauvin‐Robinet, Frédéric Tran Mau‐Them, Laurence Faivre	2022	3
8	Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype American Journal of Medical Genetics Part A ·Adam Jackson, Siddharth Banka, Helen Stewart, Hannah K. Robinson, Simon C. Lovell, Jill Clayton‐Smith	2021	4
9	Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment Amino Acids ·Myung Hee Park, M. Surman, Siddharth Banka, Alban Ziegler, Wendy K. Chung	2021	25
10	A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population Journal of Human Genetics ·Víctor Faúndes, Geraldine Malone, William G. Newman, Siddharth Banka	2018	23
11	Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders European Journal of Paediatric Neurology ·Christian de Goede, Wyatt W. Yue, 李明明, Abdou Arthur Abga, Kate Chandler, 智彦安達, Naz Khan, Martha Herández-Rodríguez, Martin Lowe, Siddharth Banka	2015	21
12	Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour Human Molecular Genetics ·Oriol Calvete, José Reyes, S. Zúñiga, Beatriz Paumard‐Hernández, María Victoria Fernández, Luís Bujanda, María Rodríguez‐Pinilla, José Palacios, Damián Heine‐Suñer, Siddharth Banka, William G. Newman, Marta Cañamero, D. Mark Pritchard, Javier Benı́tez	2015	65
13	Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2) Clinical Genetics ·Siddharth Banka, Damien Lederer, Valérie Benoît, Emma Jenkins, Emma Howard, D Hightower, Bronwyn Kerr, Shane McKee, I. Christopher Lloyd, В. Н. Наумова, Helen Stewart, Susan M. White, Ravi Savarirayan, Grazia M.S. Mancini, Diane Beysen, Ronald D. Cohn, Bernard Grisart, Isabelle Maystadt, Dian Donnai	2014	91
14	A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations Orphanet Journal of Rare Diseases ·Siddharth Banka, William G. Newman	2013	59
15	G6PC3 mutations cause non-syndromic severe congenital neutropenia Molecular Genetics and Metabolism ·Siddharth Banka, Robert Wynn, Helen Byers, Peter D. Arkwright, William G. Newman	2012	12
16	Pernicious anemia – Genetic insights Autoimmunity Reviews ·Siddharth Banka, Kate Ryan, Wendy Thomson, William G. Newman	2011	31
17	Early Diagnosis and Treatment of Cobalamin Deficiency of Infancy Owing to Occult Maternal Pernicious Anemia Journal of Pediatric Hematology/Oncology ·Siddharth Banka, Ruth Roberts, Dianne Plews, William G. Newman	2010	17
18	Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report Journal of Medical Case Reports ·Sevil Hariri Ahari, Jill Clayton‐Smith, Siddharth Banka, Susan Hamilton, Lori Koplin, Dirk Runge, Sarra Toumi, Hanna Rogan, Lorraine Gaunt	2008	6
19	Liver Cyst Caused by the Peritoneal Catheter of a CSF Shunt Pediatric Neurosurgery ·Siddharth Banka, Karl Johnson, Spyros Sgouros	2007	5
20	A novel technique for nonoperative removal of round rectal foreign bodies Techniques in Coloproctology ·Hemant Sharma, Siddharth Banka, R. Walton, Muhammed Ashraf Memon	2007	18

About Siddharth Banka

Siddharth Banka is a scholar working on Genetics, Clinical Biochemistry, Genetics, Developmental Biology and Pharmacy, having authored 55 papers that have together received 991 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (20 papers), Genomic variations and chromosomal abnormalities (18 papers), Genetics and Neurodevelopmental Disorders (7 papers), Blood disorders and treatments (6 papers), Erythrocyte Function and Pathophysiology (5 papers), Metabolism and Genetic Disorders (5 papers), Immunodeficiency and Autoimmune Disorders (5 papers) and Porphyrin Metabolism and Disorders (3 papers). The work is most often cited by research in Genetics (480 citations), Clinical Biochemistry (85 citations), Pharmacy (38 citations), Rheumatology (105 citations) and Developmental Biology (14 citations). Siddharth Banka has collaborated with scholars based in United Kingdom, United States and Netherlands. Frequent co-authors include William G. Newman, Helen Kingston, A. Marshall, Ioannis N. Petropoulos, Hassan Fadavi, Mitra Tavakoli, Rayaz A. Malik, Dian Donnai, Margaret P Adam and Hans T. Björnsson. Their work appears in journals such as European Journal of Human Genetics, Journal of Medical Genetics, Clinical Genetics, Journal of Clinical Epidemiology and Molecular Genetics and Metabolism.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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