Shivarajan Amudhavalli

Author

Also Known As

Amudhavalli S., Amudhavalli, S., S. M. Amudhavalli, S.M. Amudhavalli, Shivarajan Amudhavalli, Shivarajan M Amudhavalli, Shivarajan M. Amudhavalli, Shivarajan Manickavasagam Amudhavalli

Publications

484

Citations

H-Index

Concepts

All Affiliations

Children's Mercy Hospital University of Missouri–Kansas City Baylor College of Medicine Inserm Assistance Publique – Hôpitaux de Paris

About

Shivarajan Amudhavalli is an author at Children's Mercy Hospital specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	219
2	Health Sciences	1	1	17
3	Humanities	1	1	32
4	Language Studies	1	1	32
5	Public Health	1	1	16

Shivarajan Amudhavalli

Publications

411

Citations

H-Index

Page 1

	Year	Citations
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity, Genetics in Medicine	2022	88
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Joery den Hoed, Elke de Boer, Norine Voisin, The American Journal of Human Genetics Neurodevelopmental DisordersDifferent Neurodevelopmental DisordersNeurodegenerative DiseasesDevelopmental BiologyMendelian Disorder	2021	54
Deletion of <i>MAP2K2/MEK2</i>: a novel mechanism for a RASopathy? M.J.M. Nowaczyk, Brandi Thompson, Susan Zeesman, Clinical Genetics	2013	36
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes Elizabeth Bhoj, Damien Haye, Annick Toutain, European Journal of Medical Genetics Molecular Diagnostic TechniquesOpitz GbbbBaraitser-winter SyndromesCritical ReviewGenetic Disorder	2018	35
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder Laura Cross, Kirsty McWalter, Jennifer Keller‐Ramey, Clinical Dysmorphology Laura A.Developmental AnomalyLiterary HistoryHumanitiesLiterary Criticism	2020	32
Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD Jorge L. Granadillo, Alexander P.A. Stegmann, Hui Guo, Journal of Medical Genetics	2020	27
Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool Shivarajan Amudhavalli, Randi Hanson, Brad Angle, American Journal of Medical Genetics Part A DiagnosisPathologyOral MedicineDisease Gene IdentificationDermatology	2018	20
Syndromic neurodevelopmental disorder associated with de novo variants in <scp><i>DDX23</i></scp> William Burns, Lynne M. Bird, Delphine Héron, American Journal of Medical Genetics Part A Syndromic Neurodevelopmental DisorderNeurogenomicsBrain DevelopmentGeneticsPathology	2021	19
Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia Elena Repnikova, J. Roberts, Alex Kats, Clinical Genetics GynecologyPathologyCongenital Heart AnomalyEmbryologyHematology	2018	17
<scp> <i>TAB2</i> </scp> variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay Jennifer Hanson, Daniel Brezavar, Susan Hughes, Clinical Genetics	2021	17

Page 1