Nature Search

Indian wildlife ecology comes of age

The inaugural Indian Wildlife Ecology Conference took place on 14–16 June 2024. We talked to the co-conveners of this conference, Ajith Kumar and Jayashree Ratnam, about how the event fostered connections among Indian wildlife ecologists, and their future plans.

Vaishali Bhaumik
Ajith Kumar
Jayashree Ratnam
Comments & Opinion16 Dec 2024
Nature Ecology & Evolution

Volume: 9, P: 187-189
Targeting ESKAPE pathogens with ZnS and Au@ZnS Core–Shell nanoconjugates for improved biofilm control

Shaikh Imran Ibrahim
Ajith Manayil Parambil
Shao Chuxiao
ResearchOpen Access01 Jul 2025
Scientific Reports

Volume: 15, P: 1-21
Correction: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Katrina Tatton-Brown
Sheila Seal
Nazneen Rahman
Amendments and Corrections28 May 2014
Nature Genetics

Volume: 46, P: 657
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

PREGCARE is a new strategy for families who had a child with a pathogenic de novo mutation, that efficiently identifies couples at higher recurrence risk due to parental mosaicism, while reassuring many others that their recurrence risk is negligible.

Marie Bernkopf
Ummi B. Abdullah
Anne Goriely
ResearchOpen Access15 Feb 2023
Nature Communications

Volume: 14, P: 1-11
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Nazneen Rahman, Katrina Tatton-Brown and colleagues identify de novo mutations in the DNA methyltransferase gene DNMT3A as the cause of a new overgrowth syndrome. Shared features of this syndrome include a distinctive facial appearance, intellectual disability and greater height.

Katrina Tatton-Brown
Sheila Seal
Nazneen Rahman
Research09 Mar 2014
Nature Genetics

Volume: 46, P: 385-388
Leukotriene A4 hydrolase (LTA4H rs17525495) gene polymorphisms and paradoxical reactions in extrapulmonary tuberculosis

Selwyn Selva Kumar
Raja Solomon
Abi Manesh
ResearchOpen Access06 Mar 2023
Scientific Reports

Volume: 13, P: 1-6
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

Peter H. Dixon
Adam P. Levine
Catherine Williamson
ResearchOpen Access17 Aug 2022
Nature Communications

Volume: 13, P: 1-18
Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.

Ernest Turro
William J. Astle
Willem H. Ouwehand
Research24 Jun 2020
Nature

Volume: 583, P: 96-102
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
Enhanced sensitivity of the LIGO gravitational wave detector by using squeezed states of light

Squeezed states of light have been experimentally demonstrated to improve the performance of the Laser Interferometer Gravitational-wave Observatory (LIGO) in astrophysically relevant frequency regions. This enhanced performance may help to reach the sensitivity required for detecting gravitational waves.

J. Aasi
J. Abadie
J. Zweizig
Research21 Jul 2013
Nature Photonics

Volume: 7, P: 613-619
RETRACTED ARTICLE: Discovery of nanoscale sanal flow choking in cardiovascular system: exact prediction of the 3D boundary-layer-blockage factor in nanotubes

V. R. Sanal Kumar
Vigneshwaran Sankar
Shiv Kumar Choudhary
ResearchOpen Access29 Jul 2021
Scientific Reports

Volume: 11, P: 1-14
The contribution of X-linked coding variation to severe developmental disorders

Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male and female cases and therefore does not solely explain male bias in DDs.

Hilary C. Martin
Eugene J. Gardner
Matthew E. Hurles
ResearchOpen Access27 Jan 2021
Nature Communications

Volume: 12, P: 1-13
Evidence for 28 genetic disorders discovered by combining healthcare and research data

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

Joanna Kaplanis
Kaitlin E. Samocha
Kyle Retterer
Research14 Oct 2020
Nature

Volume: 586, P: 757-762
CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
ResearchOpen Access05 Nov 2018
Nature Communications

Volume: 9, P: 1-12
Integrated genomic characterization of oesophageal carcinoma

The Cancer Genome Atlas Research Network report integrated genomic and molecular analyses of 164 squamous cell carcinomas and adenocarcinomas of the oesophagus; they find genomic and molecular features that differentiate squamous and adenocarcinomas of the oesophagus, and strong similarities between oesophageal adenocarcinomas and the chromosomally unstable variant of gastric adenocarcinoma, suggesting that gastroesophageal adenocarcinoma is a single disease entity.

Jihun Kim
Reanne Bowlby
Jiashan Zhang
ResearchOpen Access04 Jan 2017
Nature

Volume: 541, P: 169-175
Author Correction: Contribution of infection and vaccination to population-level seroprevalence through two COVID waves in Tamil Nadu, India

T. S. Selvavinayagam
Anavarathan Somasundaram
Anup Malani
Amendments and CorrectionsOpen Access01 Mar 2024
Scientific Reports

Volume: 14, P: 1
Prevalence and architecture of de novo mutations in developmental disorders

Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.

Jeremy F. McRae
Stephen Clayton
Matthew E. Hurles
Research25 Jan 2017
Nature

Volume: 542, P: 433-438
Diminished NAD+ levels and activation of retrotransposons promote postovulatory aged oocyte (POAO) death

Ajay K. Singh
Aradhana Mohanty
H. B. D. Prasada Rao
ResearchOpen Access28 Feb 2024
Cell Death Discovery

Volume: 10, P: 1-14
Contribution of infection and vaccination to population-level seroprevalence through two COVID waves in Tamil Nadu, India

T. S. Selvavinayagam
Anavarathan Somasundaram
Anup Malani
ResearchOpen Access24 Jan 2024
Scientific Reports

Volume: 14, P: 1-11
Retraction Note: Discovery of nanoscale sanal flow choking in cardiovascular system: exact prediction of the 3D boundary-layer-blockage factor in nanotubes

V. R. Sanal Kumar
Vigneshwaran Sankar
Shiv Kumar Choudhary
Amendments and CorrectionsOpen Access06 Jun 2023
Scientific Reports

Volume: 13, P: 1
A gravitational-wave standard siren measurement of the Hubble constant

The astronomical event GW170817, detected in gravitational and electromagnetic waves, is used to determine the expansion rate of the Universe, which is consistent with and independent of existing measurements.

B. P. Abbott
R. Abbott
M. Serra-Ricart
Research16 Oct 2017
Nature

Volume: 551, P: 85-88
Revisiting current distribution and future habitat suitability models for the endemic Malabar Tree Toad (Pedostibes tuberculosus) using citizen science data

C. K. Aravind
Hebbar Priti
Kotambylu Vasudeva Gururaja
ResearchOpen Access14 Aug 2024
Scientific Reports

Volume: 14, P: 1-20
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Rare truncating mutations in the p53-inducible protein phosphatase PPM1D are shown to be associated with predisposition to breast cancer and ovarian cancer; notably, all of the mutations are mosaic in white blood cells but are not present in tumours, and probably have a gain-of-function effect.

Elise Ruark
Katie Snape
Nazneen Rahman
Research16 Dec 2012
Nature

Volume: 493, P: 406-410
Germline mutations in RAD51D confer susceptibility to ovarian cancer

Nazneen Rahman and colleagues show that germline inactivating mutations in RAD51D confer susceptibility to ovarian cancer. They further show that RAD51D-deficient cells are sensitive to PARP inhibition, suggesting a possible strategy for treating cancers arising in RAD51D mutation carriers.

Chey Loveday
Clare Turnbull
Nazneen Rahman
Research07 Aug 2011
Nature Genetics

Volume: 43, P: 879-882
Dynamical state of the network determines the efficacy of single neuron properties in shaping the network activity

Ajith Sahasranamam
Ioannis Vlachos
Arvind Kumar
ResearchOpen Access23 May 2016
Scientific Reports

Volume: 6, P: 1-16
Amalaki rasayana, a traditional Indian drug enhances cardiac mitochondrial and contractile functions and improves cardiac function in rats with hypertrophy

Vikas Kumar
kumar A. Aneesh
C. C Kartha
ResearchOpen Access17 Aug 2017
Scientific Reports

Volume: 7, P: 1-17
Deeper than the skin: Genetic Skin Disorders

Vadakke Kanakath Ajith Kumar
Books & Arts18 Oct 2012
European Journal of Human Genetics

Volume: 20, P: 1201
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Matthew Hurles, David FitzPatrick and colleagues report the discovery of four novel Mendelian disorders based on their analysis of exome sequence data from 4,125 families with diverse rare developmental disorders. They present their analytical pipeline as a general strategy for the discovery of genetic causes of autosomal recessive disorders.

Nadia Akawi
Jeremy McRae
Matthew E Hurles
Research05 Oct 2015
Nature Genetics

Volume: 47, P: 1363-1369
Author Correction: CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-4
Author Correction: CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access02 May 2019
Nature Communications

Volume: 10, P: 1-4
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

Vani Jain
Seow Hoong Foo
Andrew E. Fry
ResearchOpen Access14 Sept 2023
European Journal of Human Genetics

Volume: 31, P: 1421-1429
A gravitational wave observatory operating beyond the quantum shot-noise limit

‘Squeezed light’ enables quantum noise in one aspect of light to be reduced by increasing the noise, or more accurately the quantum uncertainty, of a complementary aspect. This has now been used to push the detectors at the heart of the GEO600 gravitational wave observatory to unprecedented levels of sensitivity.

J. Abadie
B. P. Abbott
J. Zweizig
Research11 Sept 2011
Nature Physics

Volume: 7, P: 962-965
An upper limit on the stochastic gravitational-wave background of cosmological origin

A stochastic background of gravitational waves is expected to arise from a superposition of a large number of unresolved gravitational-wave sources and should carry unique signatures from the earliest epochs of the Universe. Limits on the amplitude of the stochastic gravitational-wave background are now reported using the data from a two-year science run of the Laser Interferometer Gravitational-wave Observatory. These limits rule out certain models of early Universe evolution.

B. P. Abbott
R. Abbott
J. Zweizig
Research20 Aug 2009
Nature

Volume: 460, P: 990-994
PAK2–c-Myc–PKM2 axis plays an essential role in head and neck oncogenesis via regulating Warburg effect

Amit Gupta
Athira Ajith
Sanjeev Shukla
ResearchOpen Access01 Aug 2018
Cell Death & Disease

Volume: 9, P: 1-15
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Merel Klaassens
Deborah Morrogh
Richard H Scott
Research13 Aug 2014
European Journal of Human Genetics

Volume: 23, P: 610-615
An inherent instability study using ab initio computational methods and experimental validation of Pb(SCN)₂ based perovskites for solar cell applications

Jayita Dutta
Mithun Chennamkulam Ajith
Beena Rai
ResearchOpen Access17 Sept 2020
Scientific Reports

Volume: 10, P: 1-12
The impact of the COVID-19 pandemic upon pancreatic cancer treatment (CONTACT Study): a UK national observational cohort study

Lewis A. Hall
Siobhan C. McKay
Melissa Zhao
ResearchOpen Access23 Mar 2023
British Journal of Cancer

Volume: 128, P: 1922-1932
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice

Olga Tsoulaki
Marc Tischkowitz
Helen Hanson
ReviewsOpen Access04 Jun 2024
British Journal of Cancer

Volume: 130, P: 2027-2036

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