Usha Kini

8.6k citations

166 papers · 6.0k · 1 hit paper · h-index 45

Impact in

Genetics top 1%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Pediatrics, Perinatology and Child Health top 1%
- Pharmacological Effects and Toxicity Studies

Papers in

Genetics 66
- Genetics and Neurodevelopmental Disorders 27
- Genomics and Rare Diseases 24
- Genomic variations and chromosomal abnormalities 21
- Craniofacial Disorders and Treatments 7
Molecular Biology 56
- Congenital heart defects research 14
- Chromatin Remodeling and Cancer 9
- RNA modifications and cancer 8

Co-authors: BN Nandeesh (1 shared paper)Gus A. Baker (3 shared papers)Jill Clayton‐Smith (5 shared papers)Naghme Adab (2 shared papers)Helen Coyle (2 shared papers)Jon A. Gregg (1 shared paper)Jenny C. Taylor (9 shared papers)Alistair T. Pagnamenta (8 shared papers)
Journals: Diagnostic Cytopathology (15 papers)The American Journal of Human Genetics (14 papers)Genetics in Medicine (11 papers)Human Molecular Genetics (7 papers)European Journal of Human Genetics (6 papers)
Partner nations: United Kingdom India United States

In The Last Decade

Usha Kini

159 papers receiving 5.9k citations

Usha Kini's Hit Papers

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Evidence for 28 genetic disorders discovered by combining healthcare and research data 2020 · 402 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

2020 Nature

Peers

Countries citing papers authored by Usha Kini

Since Specialization

Citations

This map shows the geographic impact of Usha Kini'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 Usha Kini with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Usha Kini more than expected).

Fields of papers citing papers by Usha Kini

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Usha Kini. 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 Usha Kini. The network helps show where Usha Kini may publish in the future.

Co-authors

The 25 scholars most cited alongside Usha Kini, 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 Usha Kini Line = papers co-authored together Usha Kini links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 166 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Evidence for 28 genetic disorders discovered by combining healthcare and research data Nature ·Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld Hit paper breakdown →	2020	402
2	Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Nature Genetics ·Jenny C. Taylor, Hilary C. Martin, Stefano Lise, John Broxholme, Jean‐Baptiste Cazier, Andy Rimmer, Alexander A Kanapin, Gerton A. Lunter	2015	291
3	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling The American Journal of Human Genetics ·Lot Snijders Blok, Erik C. Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel	2015	218
4	Physiology of Bone Formation, Remodeling, and Metabolism Usha Kini, BN Nandeesh	2012	209
5	Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders The American Journal of Human Genetics ·Víctor Faùndes, William Newman, Laura Bernardini, Natalie L.E. Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally J Davies, Michelle K. Demos	2017	207
6	Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Human Mutation ·Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans	2013	177
7	Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly The American Journal of Human Genetics ·Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart L. Douglas, Danielle C. Lynch, Chandree L. Beaulieu, Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide	2012	169
8	Neuropsychological effects of exposure to anticonvulsant medication in utero Neurology ·J. Vinten, Naghme Adab, Usha Kini, Joanne Gorry, Jon A. Gregg, Gus A. Baker	2005	166
9	Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia Science ·Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus S. Trede, Steven Robert Ellis, Avinash Abhyankar, Yuval Itan	2013	147
10	Update on Kleefstra Syndrome Molecular Syndromology ·Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, W.M. Wissink-Lindhout, Hans van Bokhoven, Neena Elezebeth Philip, Elizabeth Berry-Kravis, Usha Kini	2011	142
11	Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome American Journal of Medical Genetics Part A ·Carol J. Gallione, Arthur S. Aylsworth, Jill Beis, Terri Berk, Barbara A. Bernhardt, Robin Dawn Clark, Carol L. Clericuzio, Cesare Danesino	2010	123
12	TBC1D24 genotype–phenotype correlation Neurology ·Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar	2016	108
13	Effects of fetal antiepileptic drug exposure Neurology ·Kimford J. Meador, Gus A. Baker, N. Andrew Browning, Morris Cohen, Rebecca Bromley, Jill Clayton‐Smith, Laura A. Kalayjian, Andres Miguel Kanner	2012	107
14	Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study Seizure ·G. E. Mawer, Michelle Briggs, Gus A. Baker, Rebecca Bromley, Helen Coyle, J. Eatock, Lydia Kerr, Usha Kini	2009	97
15	Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation The American Journal of Human Genetics ·Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer‐Haas, Björn Fischer‐Zirnsak, Jochen Hecht, David Antony Keays, Samantha J.L. Knight	2014	94
16	Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia Nature Genetics ·Loïc Broix, Hélène Jagline, Ekaterina L. Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton‐Smith, Alistair T. Pagnamenta, Kay Metcalfe	2016	93
17	CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Nature Communications ·Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine Bearce Nowak	2018	91
18	KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants Genetics in Medicine ·Joanna Kennedy, David R. Goudie, Edward M. Blair, Kate Chandler, Shelagh K. Joss, Victoria H. McKay, Andrew Green, Ruth Armstrong	2018	90
19	De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations The American Journal of Human Genetics ·Margot R.F. Reijnders, Vasilios Zachariadis, Brooke L. Latour, Lachlan A. Jolly, Grazia M. S. Mancini, Rolph Pfundt, Ka Man Wu, Conny M.A. van Ravenswaaij‐Arts	2016	89
20	Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate Seizure ·George E. Mawer, Jill Clayton‐Smith, Helen Coyle, Usha Kini	2002	82

About Usha Kini

Usha Kini is a scholar working on Genetics, Molecular Biology, Pathology and Forensic Medicine, Genetics and Surgery, having authored 166 papers that have together received 6.0k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (27 papers), Genomics and Rare Diseases (24 papers), Genomic variations and chromosomal abnormalities (21 papers), Congenital heart defects research (14 papers), Chromatin Remodeling and Cancer (9 papers), Pharmacological Effects and Toxicity Studies (9 papers), RNA modifications and cancer (8 papers) and Craniofacial Disorders and Treatments (7 papers). The work is most often cited by research in Genetics (2.4k citations), Pediatrics, Perinatology and Child Health (791 citations), Molecular Biology (2.6k citations), Developmental Biology (74 citations) and Genetics (317 citations). Usha Kini has collaborated with scholars based in United Kingdom, India and United States. Frequent co-authors include BN Nandeesh, Gus A. Baker, Jill Clayton‐Smith, Naghme Adab, Helen Coyle, Jon A. Gregg, Jenny C. Taylor, Alistair T. Pagnamenta, George E. Mawer and Samantha J.L. Knight. Their work appears in journals such as Diagnostic Cytopathology, The American Journal of Human Genetics, Genetics in Medicine, Human Molecular Genetics and European Journal of Human Genetics.

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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Usha Kini

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Usha Kini

Usha Kini's Hit Papers

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All Works

About Usha Kini

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