Usha Kini

8.5k citations

98 papers · 1.9k · h-index 23

Impact in

Pediatrics, Perinatology and Child Health top 2%
- Pharmacological Effects and Toxicity Studies
Psychiatry and Mental health top 5%
- Epilepsy research and treatment

Papers in

Genetics 26
- Genomic variations and chromosomal abnormalities 10
- Genetics and Neurodevelopmental Disorders 7
- Cleft Lip and Palate Research 5
- Genomics and Rare Diseases 5
- Craniofacial Disorders and Treatments 5
- Congenital Ear and Nasal Anomalies 4
Surgery 22

Co-authors: BN Nandeesh (1 shared paper)Gus A. Baker (3 shared papers)Naghme Adab (2 shared papers)Jill Clayton‐Smith (5 shared papers)Jon A. Gregg (1 shared paper)Helen Coyle (2 shared papers)Jenny C. Taylor (10 shared papers)Alistair T. Pagnamenta (9 shared papers)
Journals: Diagnostic Cytopathology (13 papers)European Journal of Human Genetics (4 papers)Human Molecular Genetics (4 papers)European Journal of Medical Genetics (3 papers)Seizure (2 papers)
Partner nations: India United Kingdom United States

In The Last Decade

Usha Kini

92 papers receiving 1.8k citations

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 98 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Physiology of Bone Formation, Remodeling, and Metabolism Usha Kini, BN Nandeesh	2012	211
2	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	165
3	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, L. Kuzmyshcheva, S. B. Lucas, Lynne Wyatt, Jill Clayton‐Smith	2009	94
4	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 A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne B. Mitchell, Stefan Mundlos, (unknown), Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, Peter Krawitz	2014	84
5	Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate Seizure ·George Mawer, Jill Clayton‐Smith, Helen Coyle, Usha Kini	2002	82
6	Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes Archives of Disease in Childhood Fetal & Neonatal ·Usha Kini, (unknown), (unknown), (unknown), (unknown)	2005	71
7	The behavioral consequences of exposure to antiepileptic drugs in utero Epilepsy & Behavior ·J. Vinten, Rebecca Bromley, Joanne Taylor, Naghme Adab, Usha Kini, Gus A. Baker	2008	61
8	Ulnar mammary syndrome and TBX3: Expanding the phenotype American Journal of Medical Genetics Part A ·Helen Linden, Rosy Williams, Janet King, Edward Blair, Usha Kini	2009	57
9	Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis Human Molecular Genetics ·Alistair T. Pagnamenta, Malcolm F. Howard, Éva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, P. Cox, Tamás Balla, Jenny C. Taylor, Usha Kini	2015	56
10	Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome Journal of Medical Genetics ·Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo‐Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C. Taylor, Malcolm F. Howard, David A. Keays, Aman Singh Sohal, Susanne J. Kühl, Usha Kini, Alisdair McNeill	2015	53
11	Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies Journal of Human Genetics ·Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha J.L. Knight, Usha Kini, Jenny C. Taylor, David A. Keays	2011	51
12	Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders European Journal of Human Genetics ·(unknown), Alistair T. Pagnamenta, Yoshiko Murakami, John Taylor, Consuelo Anzilotti, Malcolm F. Howard, Venessa Miller, Diana Johnson, Shereen Tadros, Sahar Mansour, I. Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C. Taylor, Usha Kini	2017	48
13	Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals European Journal of Medical Genetics ·Mira Kharbanda, Daniela T. Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Smith, John Burn, Usha Kini, Anna de Burca, David Fitzpatrick, Esther Kinning	2016	47
14	Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations? Human Genomics ·Adila Al‐Kindy, Nadia Chuzhanova, Usha Kini, D.N. Cooper, Meena Upadhyaya	2012	46
15	NOTCH, a new signaling pathway implicated in holoprosencephaly Human Molecular Genetics ·Valérie Dupé, Lucie Rochard, Sandra Mercier, Yann Le Pétillon, Isabelle Gicquel, Claude Bendavid, G. Bourrouillou, Usha Kini, Christel Thauvin‐Robinet, Timothy P. Bohan, S. Odent, Christèle Dubourg, Véronique David	2010	40
16	A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss American Journal of Medical Genetics Part A ·Alistair T. Pagnamenta, Jennie Murray, Grace Yoon, Elham Sadighi Akha, Victoria Harrison, Louise S. Bicknell, Kaseem Ajilogba, Helen Stewart, Usha Kini, Jenny C. Taylor, David A. Keays, Andrew P. Jackson, Samantha J.L. Knight	2012	33
17	Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community Genetics Research ·Harsha Rajasimha, PRASANNAKUMAR BASAYYA SHIROL, Preveen Ramamoorthy, Madhuri Hegde, SANGEETA BARDE, Vijay Chandru, M. E. RAVINANDAN, Ramani Ramchandran, Kasturi Haldar, Jimmy Lin, Imran Babar, Katta M. Girisha, Sudha Srinivasan, Duraiswamy Navaneetham, Rajani Battu, RAJASHREE DEVARAKONDA, Usha Kini, Kinnimulki Vijayachandra, Ishwar C. Verma	2014	31
18	Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia Clinical Genetics ·Leslie A. Lange, A. T. Pagnamenta, Stefano Lise, Steven Clasper, Helen Stewart, Elham Sadighi Akha, Gerardine Quaghebeur, Samantha J.L. Knight, David A. Keays, Jenny C. Taylor, Usha Kini	2016	29
19	De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation Cell Reports ·Matilda Haas, Linh Ngo, Shanshan Li, Sibylle Schleich, Zhengdong Qu, Hannah Vanyai, Hayley Cullen, Aida Cardona‐Alberich, Ivan Gladwyn‐Ng, Alistair T. Pagnamenta, Jenny C. Taylor, Helen Stewart, Usha Kini, Kent E. Duncan, Aurelio A. Teleman, David A. Keays, Julian Ik‐Tsen Heng	2016	29
20	The clinical presentation caused by truncating CHD8 variants Clinical Genetics ·Sofia Douzgou, Hui Liang, Kay Metcalfe, Suresh Somarathi, Marc Tischkowitz, Mohamed Wafik, Usha Kini, Shane McKee, Laura Yates, Marta Bertoli, Sally Ann Lynch, Susan Holder, (unknown), (unknown)	2019	26

About Usha Kini

Usha Kini is a scholar working on Genetics, Surgery, Molecular Biology, Pathology and Forensic Medicine and Pediatrics, Perinatology and Child Health, having authored 98 papers that have together received 1.9k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (10 papers), Pharmacological Effects and Toxicity Studies (8 papers), Genetics and Neurodevelopmental Disorders (7 papers), Cleft Lip and Palate Research (5 papers), Genomics and Rare Diseases (5 papers), Craniofacial Disorders and Treatments (5 papers), Congenital heart defects research (4 papers) and Congenital Ear and Nasal Anomalies (4 papers). The work is most often cited by research in Pediatrics, Perinatology and Child Health (488 citations), Psychiatry and Mental health (235 citations), Genetics (380 citations), Developmental Biology (28 citations) and Microbiology (8 citations). Usha Kini has collaborated with scholars based in India, United Kingdom and United States. Frequent co-authors include BN Nandeesh, Gus A. Baker, Naghme Adab, Jill Clayton‐Smith, Jon A. Gregg, Helen Coyle, Jenny C. Taylor, Alistair T. Pagnamenta, George Mawer and Samantha J.L. Knight. Their work appears in journals such as Diagnostic Cytopathology, European Journal of Human Genetics, Human Molecular Genetics, European Journal of Medical Genetics and Seizure.

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

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