Product
Help
Pricing
About
Jobs
Log in
Get started
Author
Add to collection
Shalini S. Nayak
Observed names:
Nayak, Shalini S.,
S S Nayak,
Shalini Nayak,
Shalini S Nayak,
Shalini Sanjeeva Nayak
Institutions:
Manipal Academy of Higher Education,
Kasturba Medical College, Manipal
Observed institutions:
Manipal Academy of Higher Education,
Kasturba Medical College Hospital,
Kasturba Hospital,
Pediatrics and Genetics,
Kasturba Medical College, Manipal
ORCID:
0000-0001-9521-7031
Observed ORCID:
0000-0001-9521-7031
OpenAlex ID:
A5066644337
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
2018
·
Emmanuelle Szenker-Ravi
, Umut Altunoglu
, et al.
·
Nature
·
191
Cornelia de Lange syndrome in diverse populations
2019
·
Leah Dowsett
, Antonio R. Porras
, et al.
·
American Journal of Medical Genetics Part A
·
52
Clinical utility of fetal autopsy and its impact on genetic counseling
2015
·
Shalini S. Nayak
, Anju Shukla
, et al.
·
Prenatal Diagnosis
·
38
Psychosocial Distress of Head Neck Cancer (HNC) Patients Receiving Radiotherapy: A Systematic Review
2022
·
Shalini Nayak
, Krishna Sharan
, et al.
·
Asian Pacific Journal of Cancer Prevention
·
37
PDF
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
2021
·
Anna Hammarsjö
, Maria Pettersson
, et al.
·
Journal of Human Genetics
·
37
PDF
A retrospective cohort analysis of arthroscopic Bankart repair with or without remplissage in patients with off-track Hill-Sachs lesion evaluated for functional outcomes, recurrent instability, and range of motion
2019
·
Vivek Pandey
, Lohith Gangadharaiah
, et al.
·
Journal of Shoulder and Elbow Surgery
·
37
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
2020
·
Jessica X. Chong
, Jared C. Talbot
, et al.
·
The American Journal of Human Genetics
·
34
PDF
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
2021
·
Alban Ziegler
, Rémi Duclaux-Loras
, et al.
·
The American Journal of Human Genetics
·
28
PDF
Meckel syndrome: Clinical and mutation profile in six fetuses
2019
·
Periyasamy Radhakrishnan
, Shalini S. Nayak
, et al.
·
Clinical Genetics
·
27
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII
2023
·
Prajna Udupa
, Akshaykumar Nanaji Shrikondawar
, et al.
·
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
·
23
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia
2025
·
Benjamin A. Harrison
, Emma Mizrahi-Powell
, et al.
·
Journal of Clinical Investigation
·
21
Spectrum of urorectal septum malformation sequence
2015
·
Krupa Shah
, Shalini S. Nayak
, et al.
·
Congenital Anomalies
·
20
PDF
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
2023
·
Shruti Pande
, Purvi Majethia
, et al.
·
European Journal of Human Genetics
·
19
PDF
Fetal akinesia deformation sequence: Expanding the phenotypic spectrum
2014
·
Shalini S. Nayak
, Rajagopal Kadavigere
, et al.
·
American Journal of Medical Genetics Part A
·
14
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
2021
·
Shalini S. Nayak
, Pauline E. Schneeberger
, et al.
·
Scientific Reports
·
12
PDF
Estimating the minimal clinically important difference of shoulder functional scores after arthroscopic rotator cuff repair: a prospective study
2024
·
Aditya A Mukadam
, Shalini Nayak
, et al.
·
Archives of Orthopaedic and Trauma Surgery
·
11
PDF
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation
2017
·
Periyasamy Radhakrishnan
, Shalini Nayak
, et al.
·
Journal of Pediatric Genetics
·
10
PDF
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
2020
·
Pauline E. Schneeberger
, Shalini S. Nayak
, et al.
·
American Journal of Medical Genetics Part A
·
9
PDF
Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications
2024
·
Purvi Majethia
, Namanpreet Kaur
, et al.
·
Clinical Genetics
·
8
PDF
Expanding the spectrum of syndromic PPP2R3C ‐related XY gonadal dysgenesis to XX gonadal dysgenesis
2021
·
Umut Altunoglu
, Esra Börklü
, et al.
·
Clinical Genetics
·
8
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families
2020
·
Periyasamy Radhakrishnan
, Prince Jacob
, et al.
·
Clinical Dysmorphology
·
8
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1
2016
·
Shalini S. Nayak
, Smrithi Salian
, et al.
·
Congenital Anomalies
·
8
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
2018
·
Periyasamy Radhakrishnan
, Amita Moirangthem
, et al.
·
Clinical Dysmorphology
·
7
Research letters
2015
·
Shalini S. Nayak
, Anju Shukla
, et al.
·
Indian Pediatrics
·
7
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder.
2012
·
S S Nayak
, P K Adiga
, et al.
·
PubMed
·
7
Show more works
View as search
Works count:
57
Citation count:
727
H-index:
14
I10-index:
17
Year
Topic
Type
