S. Srivastava

发表

Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene

Siddharth Srivastava, Ryu-ichiro Hashimoto, Flora Tassone, 2011, Movement disorders : official journal of the Movement Disorder Society.

Role of Parent-Reported Executive Functioning and Anxiety inInsistence on Sameness in Individuals with Germline PTENMutations

C. Eng, J. Martinez-Agosto, R. Busch, 2022 .

ELP2 is a novel gene implicated in neurodevelopmental disabilities

A. Fatemi, E. Chao, S. Srivastava, 2015, American journal of medical genetics. Part A.

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

A. Pagnamenta, J. Lupski, J. Meiler, 2020, medRxiv.

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

J. Christodoulou, A. Compton, S. Balasubramaniam, 2022, JIMD reports.

The Feasibility of Early Alzheimer’s Disease Diagnosis Using a Neural Network Hybrid Platform

D. Teplow, S. Srivastava, Xinke Yu, 2022, Biosensors.

On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability".

A. Thurm, S. Srivastava, 2022, American journal on intellectual and developmental disabilities.

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.

M. Sahin, A. Poduri, Sara A. Lewis, 2022, JAMA neurology.

Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

R. Schüle, C. Toro, M. Sahin, 2022, Movement disorders : official journal of the Movement Disorder Society.

American Journal on Intellectual and Developmental Disabilities On Terms: Intellectual Disability and ‘Condition’, ‘Disorder’, ‘Syndrome’, ‘Disease’, and ‘Disability’

A. Thurm, S. Srivastava, 2022 .

Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations

A. Hardan, J. Martinez-Agosto, R. Busch, 2021, Journal of Autism and Developmental Disorders.

Underrepresentation of the term cerebral palsy in clinical genetics databases

A. Poduri, Sara A. Lewis, S. Srivastava, 2022, American journal of medical genetics. Part A.

Early Neurodevelopmental Screening in TSC: A Potential Window of Opportunity

A. Poretti, A. Hartman, Psyd, 2014 .

Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome

M. Grados, S. Wilkinson, A. Kline, 2020, Journal of Autism and Developmental Disorders.

Atypical developmental trajectory of functionally significant cortical areas in children with chromosome 22q11.2 deletion syndrome

M. Buonocore, T. Simon, S. Srivastava, 2012, Human brain mapping.

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

B. D. de Vries, S. Küry, J. Martinez-Agosto, 2023, American journal of medical genetics. Part A.

Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments

D. Harvey, S. Rivera, F. Tassone, 2011, Brain and Cognition.

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

D. Ledbetter, H. Firth, David T. Miller, 2019, Genetics in Medicine.

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.

S. Srivastava, D. Ebrahimi-Fakhari, Catherine Jordan, 2022, Human molecular genetics.

Updated consensus guidelines on the management of Phelan–McDermid syndrome

A. Kolevzon, L. Soorya, J. Buxbaum, 2023, American journal of medical genetics. Part A.

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change

A. Hardan, M. Sahin, J. Martinez-Agosto, 2023, Journal of Neurodevelopmental Disorders.

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.

RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS)

M. Broder, M. Warman, K. Keppler-Noreuil, 2023, Journal of Vascular Anomalies.

Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.

Daniel M Balkin, S. Srivastava, M. Liang, 2023, Pediatric dermatology.

A. Pagnamenta, M. Nieto, Z. Tümer, 2023, European Journal of Human Genetics.

Clinical actionability of genetic findings in cerebral palsy

R. Segel, R. Wintle, D. Fehlings, 2023, medRxiv.

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

A. Hardan, J. Martinez-Agosto, S. Parikh, 2024, Annals of clinical and translational neurology.