Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

Michelle C. Do Rosario · SciRah

Researcher profile · Semantic Scholar

Michelle C. Do Rosario

Share profile

Michelle C. Do Rosario — researcher profile on SciRah

h-index: 6
Works: 14
Citations: 108

Most-cited papers

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
D. Narayanan, Divya Udyawar, P. Kaur, Suvasini Sharma +13 more
2021European Journal of Human Genetics23 citations Open access
Semantic Scholar
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
Michelle C. Do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, Fang Liu +14 more
2022Brain : a journal of neurology18 citations Open access
Semantic Scholar
Clinical and Genetic Spectrum of 104 Indian families with Central Nervous System White Matter Abnormalities
P. Kaur, Michelle C. Do Rosario, M. Hebbar, Suvasini Sharma +28 more
2021Clinical Genetics17 citations Open access
Semantic Scholar
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
Shruti Pande, P. Majethia, K. Nair, Lakshmi Priya Rao +27 more
2023European Journal of Human Genetics16 citations Open access
Semantic Scholar
Genetic Disorders with Central Nervous System White Matter Abnormalities: An Update
A. Shukla, P. Kaur, D. Narayanan, Michelle C. Do Rosario +2 more
2020Clinical Genetics12 citations Open access
Semantic Scholar
Further delineation of KIF21B-related neurodevelopmental disorders
D. Narayanan, José Rivera Alvarez, Peggy Tilly, Michelle C. Do Rosario +3 more
2022Journal of Human Genetics6 citations
Semantic Scholar
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
P. Majethia, Michelle C. Do Rosario, P. Kaur, Karanvir +4 more
2021Annals of Human Genetics6 citations Open access
Semantic Scholar
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population
Namanpreet Kaur, Michelle C. Do Rosario, P. Majethia, Selinda Mascarenhas +18 more
2024American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
c.202_204del in NUP214 causes late onset form of febrile encephalopathy
S. Farooqui, D. Narayanan, Selinda Mascarenhas, Michelle C. Do Rosario +3 more
2024American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family
Michelle C. Do Rosario, Greeshma Purushothama, D. Narayanan, S. Siddiqui +2 more
2023Clinical Dysmorphology2 citations
Semantic Scholar
Homozygous variant p.(Arg163Trp) in PIGH Causes Glycosylphosphatidylinositol Biosynthesis Defect with Epileptic Encephalopathy and Delayed Myelination
Michelle C. Do Rosario, P. Kaur, K. Girisha, Stephanie L. Bielas +1 more
2022Clinical Dysmorphology2 citations
Semantic Scholar
Biotechnological applications of Turbinaria ornata and its endophytes
Michelle C. Do Rosario, P. Poddar, Swarnkumar Reddy, W. J. Osborne
20202 citations
Semantic Scholar
P655: Challenges in prioritizing variants with high allele frequency in rare monogenic diseases in gnomAD v4.1.0
V. Bhat, Sija S, P. Radhakrishnan, Vismay Bidwaik +12 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature
Selinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, Michelle C. Do Rosario +8 more
2024Clinical Dysmorphology0 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

A. Shukla×12
Invite
A. Shukla — researcher profile on SciRah
K. Girisha×9
Invite
K. Girisha — researcher profile on SciRah
D. Narayanan×8
Invite
D. Narayanan — researcher profile on SciRah
P. Majethia×6
Invite
P. Majethia — researcher profile on SciRah

×6

Invite

S. Siddiqui — researcher profile on SciRah

Invite

P. Kaur — researcher profile on SciRah

Invite

K. Nair — researcher profile on SciRah

S. Nampoothiri×4

Invite

S. Nampoothiri — researcher profile on SciRah

Lakshmi Priya Rao×4

Invite

Lakshmi Priya Rao — researcher profile on SciRah

Stephanie L. Bielas×4

Invite

Stephanie L. Bielas — researcher profile on SciRah

Selinda Mascarenhas×4

Invite

Selinda Mascarenhas — researcher profile on SciRah

Invite

V. Bhat — researcher profile on SciRah