D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Medicine D-index 91 Citations 23,000 348 World Ranking 7429 National Ranking 4016

Overview

What is she best known for?

The fields of study she is best known for:

  • Internal medicine
  • Gene
  • Mutation

Elizabeth Berry-Kravis focuses on Fragile X syndrome, FMR1, Ataxia, Psychiatry and Fragile X-associated tremor/ataxia syndrome. Her Fragile X syndrome study combines topics in areas such as Endocrinology, Internal medicine, Autism, Pediatrics and Neurological disorder. Her FMR1 research integrates issues from Metabotropic glutamate receptor 5, Neuroscience, Intellectual disability and Bioinformatics.

Her research investigates the connection between Ataxia and topics such as Genetics that intersect with issues in Congenital central hypoventilation syndrome and Sudden infant death syndrome. Her work deals with themes such as Genetic counseling and Fragile x, which intersect with Psychiatry. Her Fragile X-associated tremor/ataxia syndrome research is multidisciplinary, incorporating perspectives in Fragile X Tremor/Ataxia Syndrome, Trinucleotide repeat expansion, Intention tremor and Parkinsonism.

Her most cited work include:

  • Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates (619 citations)
  • Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056 (557 citations)
  • Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population (497 citations)

What are the main themes of her work throughout her whole career to date?

Elizabeth Berry-Kravis spends much of her time researching Fragile X syndrome, FMR1, Pediatrics, Internal medicine and Ataxia. To a larger extent, Elizabeth Berry-Kravis studies Psychiatry with the aim of understanding Fragile X syndrome. Her work carried out in the field of FMR1 brings together such families of science as Neuroscience and Audiology.

Her research investigates the link between Pediatrics and topics such as Congenital central hypoventilation syndrome that cross with problems in Autonomic nervous system. Her biological study spans a wide range of topics, including Gastroenterology, Endocrinology, Oncology and Cardiology. Her Ataxia study also includes fields such as

  • Fragile X-associated tremor/ataxia syndrome which is related to area like Intention tremor, Neurological disorder and Gait Ataxia,
  • Parkinsonism together with Dementia.

She most often published in these fields:

  • Fragile X syndrome (44.05%)
  • FMR1 (27.08%)
  • Pediatrics (20.83%)

What were the highlights of her more recent work (between 2018-2021)?

  • Fragile X syndrome (44.05%)
  • Clinical psychology (8.33%)
  • FMR1 (27.08%)

In recent papers she was focusing on the following fields of study:

Her primary areas of investigation include Fragile X syndrome, Clinical psychology, FMR1, Autism spectrum disorder and Pediatrics. The Fragile X syndrome study combines topics in areas such as Irritability, Language development, Cognition, Autism and Comorbidity. Her study on FMR1 is covered under Genetics.

Her studies deal with areas such as Audiology, Intellectual disability, Item response theory, Social cognition and Catatonia as well as Autism spectrum disorder. The various areas that she examines in her Pediatrics study include Ataxia, Randomized controlled trial, Disease and Allele. Her research integrates issues of Rating scale, Clinical trial, Kinetic tremor and Cognitive decline in her study of Ataxia.

Between 2018 and 2021, her most popular works were:

  • Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome (27 citations)
  • Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. (16 citations)
  • N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease. (15 citations)

In her most recent research, the most cited papers focused on:

  • Internal medicine
  • Gene
  • Mutation

Her scientific interests lie mostly in Fragile X syndrome, Autism spectrum disorder, Intellectual disability, FMR1 and Clinical psychology. Elizabeth Berry-Kravis integrates many fields, such as Fragile X syndrome and Qualitative analysis, in her works. Elizabeth Berry-Kravis has researched Intellectual disability in several fields, including Decompensation, Down syndrome, Mental age and Pediatrics.

Elizabeth Berry-Kravis has included themes like Phenotype, Ataxia and Rating scale in her FMR1 study. Her work on Treatment development as part of general Clinical psychology study is frequently linked to Mailing list, bridging the gap between disciplines. Her studies in Autism integrate themes in fields like Language delay and Cohort.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

Sébastien Jacquemont;Randi J. Hagerman;Maureen Leehey;Jim Grigsby.
American Journal of Human Genetics (2003)

791 Citations

Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population

Sébastien Jacquemont;Randi J. Hagerman;Maureen A. Leehey;Deborah A. Hall.
JAMA (2004)

669 Citations

Advances in the treatment of fragile x Syndrome

Randi J Hagerman;Elizabeth Berry-Kravis;Walter E. Kaufmann;Michele Y. Ono.
Pediatrics (2009)

613 Citations

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Sébastien Jacquemont;Aurore Curie;Vincent des Portes;Maria Giulia Torrioli.
Science Translational Medicine (2011)

579 Citations

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

Debra E. Weese-Mayer;Elizabeth M. Berry-Kravis;Lili Zhou;Brion S. Maher.
American Journal of Medical Genetics Part A (2003)

488 Citations

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management

Debra E. Weese-Mayer;Elizabeth M. Berry-Kravis;Isabella Ceccherini;Thomas G. Keens.
American Journal of Respiratory and Critical Care Medicine (2010)

440 Citations

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

Elizabeth M Berry-Kravis;David Hessl;Sarah Coffey;Crystal Hervey.
Journal of Medical Genetics (2009)

426 Citations

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction

James A. Brunberg;Sebastien Jacquemont;Randi J. Hagerman;Elizabeth M. Berry-Kravis.
American Journal of Neuroradiology (2002)

406 Citations

Fragile X syndrome

Randi J. Hagerman;Elizabeth Berry-Kravis;Heather Cody Hazlett;Donald B. Bailey.
Nature Reviews Disease Primers (2017)

387 Citations

Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status.

Denis A. Evans;David A. Bennett;Robert S. Wilson;Julia L. Bienias.
JAMA Neurology (2003)

369 Citations

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