S. Mohan

发表

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies

D. Pineda-Alvarez, David Wu, C. Kesserwan, 2020, Haematologica.

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.

Kristy Lee, Minjie Luo, P. Bray, 2021, Blood advances.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Tam P. Sneddon, Andrew R. Grant, C. Betancur, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies

T. Koshy, Vettriselvi Venkatesan, S. Mohan, 2016, The Indian Journal of Pediatrics.

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)

S. Nampoothiri, Latha Ravichandran, S. Paul, 2016, The Indian journal of medical research.

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.

Ying Wang, Christopher C. Porter, Anna L. Brown, 2019, Blood advances.

Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.

S. Mohan, M. Gowda, Devika Ramesh, 2021, Clinical dysmorphology.

The commercial genetic testing landscape for Parkinson's disease.

I. König, C. Blauwendraat, M. Farrer, 2021, Parkinsonism & related disorders.

Interleukin-4-receptor alpha gene polymorphism and the risk of renal cell carcinoma in a South Indian population.

Vettriselvi Venkatesan, S. Mohan, S. Shroff, 2009, Asian Pacific journal of cancer prevention : APJCP.

Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.

S. Nampoothiri, T. Koshy, Vettriselvi Venkatesan, 2016, Laboratory medicine.

Transmission of Cri-du-Chat Syndrome from a Normal Paternal Chromosome Translocation Carrier

S. Paul, T. Koshy, S. Mohan, 2016 .

Primary Pulmonary Primitive Neuroectodermal Tumor of Lung in a Child

Amitabh Singh, R. Seth, S. Mohan, 2016 .

Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification

T. Koshy, Vettriselvi Venkatesan, S. Mohan, 2016, Journal of Genetics.

Glanzmann thrombasthenia: genetic basis and clinical correlates

Kristy Lee, Minjie Luo, P. Bray, 2020, Haematologica.

A Challenging Case of Domestically Acquired Leprosy in the Southern United States

J. Fairley, S. Mohan, S. Mohan, 2020, Open forum infectious diseases.

Acute kidney injury and early fluid load in a retrospective cohort of neonatal sepsis

S. Goldstein, M. Santoro, S. Mohan, 2022, Pediatric Nephrology.

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.

Lora J. H. Bean, Meredith A. Weaver, A. Moser, 2021, Molecular genetics and metabolism.

Intussusception at the onset of acute lymphoblastic leukemia in a child.

S. Mohan, A. Shanavas, P. Kumari, 1998, Indian pediatrics.

The Impact of Toxic Language on the Health of Reddit Communities

Apala Guha, Fred Popowich, Michael Harris, 2017, Canadian Conference on AI.

Glanzmann thrombasthenia: Genetic basis and clinical correlates

Kristy Lee, Minjie Luo, P. Bray, 2020 .