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V. Shashi · SciRah

Researcher profile · Semantic Scholar

V. Shashi

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V. Shashi — researcher profile on SciRah

h-index: 53
Works: 241
Citations: 11K

Most-cited papers

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
C. Rehder, Lora J. H. Bean, D. Bick, Elizabeth C. Chao +6 more
2021Genetics in Medicine134 citations Open access
Semantic Scholar
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
R. Davies, A. Fiksinski, E. Breetvelt, N. Williams +33 more
2020Nature Medicine122 citations Open access
Semantic Scholar
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
I. Cleynen, W. Engchuan, M. Hestand, Tracy Heung +120 more
2020Molecular Psychiatry113 citations Open access
Semantic Scholar
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
B. Cogné, Sophie Ehresmann, Éliane Beauregard-Lacroix, J. Rousseau +111 more
2019American Journal of Human Genetics55 citations Open access
Semantic Scholar
Exome/Genome Sequencing in Undiagnosed Syndromes
J. Sullivan, K. Schoch, R. Spillmann, V. Shashi
2023Annual Review of Medicine52 citations Open access
Semantic Scholar
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
R. Holt, R. Young, B. Crespo, F. Ceroni +30 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
L. Lenaerts, S. Reynhout, Iris Verbinnen, F. Laumonnier +48 more
2020Genetics in Medicine47 citations Open access
Semantic Scholar
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H. Rodan, R. Spillmann, H. Kurata, S. Lamothe +53 more
2021Genetics in Medicine44 citations Open access
Semantic Scholar
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
K. Schoch, Q. Tan, N. Stong, Kristen Deak +5 more
2020Genetics in Medicine41 citations Open access
Semantic Scholar
Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science
K. Schoch, C. Esteves, A. Bican, R. Spillmann +27 more
2020Genetics in Medicine36 citations Open access
Semantic Scholar
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, M. Battig +149 more
2023Journal of Clinical Investigation35 citations Open access
Semantic Scholar
Phenotypic Expansion of KMT2D-Related Disorder: Beyond Kabuki Syndrome
Dustin Baldridge, R. Spillmann, D. J. Wegner, Jennifer A. Wambach +7 more
2020American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, H. Sticht, P. Zacher, B. Popp +54 more
2020Genetics in Medicine35 citations Open access
Semantic Scholar
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
D. Calame, Tianyu Guo, Chen Wang, L. Garrett +64 more
2023medRxiv32 citations Open access
Semantic Scholar
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
S. Choufani, Vanda McNiven, C. Cytrynbaum, M. Jangjoo +58 more
2022American Journal of Human Genetics30 citations Open access
Semantic Scholar
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
I. Parenti, D. Lehalle, C. Nava, E. Torti +40 more
2021Human Genetics30 citations Open access
Semantic Scholar
Early Onset Severe ATP1A2 Epileptic Encephalopathy: Clinical Characteristics and Underlying Mutations
M. Moya-Mendez, D. Mueller, Milton Pratt, Melanie Bonner +10 more
2021Epilepsy & Behavior29 citations Open access
Semantic Scholar
A normative chart for cognitive development in a genetically selected population
A. Fiksinski, C. Bearden, A. Bassett, R. Kahn +32 more
2021Neuropsychopharmacology25 citations Open access
Semantic Scholar
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations
L. Prange, Milton Pratt, Kristin C. Herman, R. Schiffmann +10 more
2020Neurology: Genetics25 citations Open access
Semantic Scholar
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
S. Küry, F. Ebstein, Alice Mollé, T. Besnard +54 more
2022American Journal of Human Genetics24 citations Open access
Semantic Scholar
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Patricia L. Weng, A. Majmundar, Kamal Khan, Tze Y. Lim +63 more
2021American Journal of Human Genetics23 citations Open access
Semantic Scholar
Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features.
Xi Luo, K. Schoch, S. Jangam, V. H. Bhavana +11 more
2021Human Molecular Genetics20 citations Open access
Semantic Scholar
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
H. Cope, H. Barseghyan, Surajit Bhattacharya, Yu-Long Fu +290 more
2021Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
B. Bowles, A. Ferrer, C. Nishimura, F. Vairo +27 more
2021American Journal of Medical Genetics. Part A19 citations Open access
Semantic Scholar
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network
H. Cope, R. Spillmann, J. Rosenfeld, E. Brokamp +17 more
2020Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Alina Kurolap, Florian Kreuder, C. Gonzaga-Jauregui, M. Duvdevani +35 more
2022American Journal of Human Genetics18 citations Open access
Semantic Scholar
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Caroline M. Dias, R. Pfundt, T. Kleefstra, Janneke Shuurs-Hoeijmakers +25 more
2021American Journal of Medical Genetics. Part A18 citations Open access
Semantic Scholar
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
G. Cappuccio, Camilla Ceccatelli Berti, E. Baruffini, J. Sullivan +23 more
2021Human Mutation15 citations Open access
Semantic Scholar
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
T. Brunet, K. McWalter, Katharina Mayerhanser, Grace M Anbouba +57 more
2020Genetics in Medicine15 citations Open access
Semantic Scholar
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome
J. Sullivan, N. Stong, E. Baugh, M. McDonald +2 more
2020American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Remzi Karayol, Maria C. Borroto, S. Haghshenas, Anoja Namasivayam +62 more
2024American Journal of Human Genetics14 citations Open access
Semantic Scholar
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das +53 more
2024Nature Communications13 citations Open access
Semantic Scholar
Unraveling non-participation in genomic research: a complex interplay of barriers, facilitators, and sociocultural factors
A. McConkie-Rosell, R. Spillmann, K. Schoch, J. Sullivan +4 more
2023Journal of Genetic Counseling13 citations
Semantic Scholar
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
V. Shashi, K. Schoch, R. Ganetzky, P. Kranz +23 more
2023Genetics in Medicine13 citations Open access
Semantic Scholar
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
S. Ghosh, M. Scala, C. Beetz, G. Helman +42 more
2020European Journal of Human Genetics13 citations Open access
Semantic Scholar
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
Yu-Chen Xu, Rui Song, Riley E. Perszyk, Wen-Juan Chen +31 more
2024Cellular and Molecular Life Sciences12 citations Open access
Semantic Scholar
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Marie Morimoto, V. Bhambhani, Nour Gazzaz, M. Davids +274 more
2023npj Genomic Medicine12 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of ARCN1-related syndrome
Alyssa L. Ritter, J. Gold, Hiroshi Hayashi, Amanda M. Ackermann +38 more
2022Genetics in Medicine12 citations Open access
Semantic Scholar
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Yingjie Zhao, Yu-Jue Wang, Lijie Shi, D. McDonald-McGinn +48 more
2023npj Genomic Medicine11 citations Open access
Semantic Scholar
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa +17 more
2025medRxiv10 citations Open access
Semantic Scholar
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
M. Bainbridge, Aloran Mazumder, Daisuke Ogasawara, R. Abou Jamra +30 more
2022Brain : a journal of neurology10 citations Open access
Semantic Scholar
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
S. Choufani, Vanda McNiven, C. Cytrynbaum, M. Jangjoo +58 more
2025American Journal of Human Genetics9 citations
Semantic Scholar
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias
Priyanka Sandal, C. Jong, Ronald A. Merrill, Grace J. Kollman +11 more
2024Human Molecular Genetics9 citations Open access
Semantic Scholar
De novo variants in DENND5B cause a neurodevelopmental disorder
M. Scala, Valeria Tomati, Matteo P. Ferla, Mariateresa Lena +282 more
2024American Journal of Human Genetics9 citations Open access
Semantic Scholar
A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
Sebastian Ochoa, Amy P. Hsu, Andrew J. Oler, Dhaneshwar Kumar +45 more
2024Science Translational Medicine9 citations Open access
Semantic Scholar
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Scott Barish, Mumine Senturk, K. Schoch, Amanda L. Minogue +20 more
2022Human Molecular Genetics9 citations Open access
Semantic Scholar
Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.
Linh M. Tran, Jason Richards, M. McDonald, A. McConkie-Rosell +4 more
2020Epileptic disorders9 citations Open access
Semantic Scholar
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders
David C Calianese, Tomoyasu Noji, J. Sullivan, K. Schoch +7 more
2024Proceedings of the National Academy of Sciences of the United States of America7 citations Open access
Semantic Scholar
HCN2-associated neurodevelopmental disorders: data from patients and Xenopus cell models
Clara Houdayer, A. M. Phillips, Marie Chabbert, Jennifer Bourreau +49 more
2025Annals of Neurology6 citations Open access
Semantic Scholar
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, H. Lesmann +66 more
2025American Journal of Human Genetics6 citations Open access
Semantic Scholar

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