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
Genetics D-index 59 Citations 24,121 138 World Ranking 2394 National Ranking 1054

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Genetics
  • Chromosome

Her primary scientific interests are in Genetics, Autism, Genetic testing, Copy-number variation and Heritability of autism. Her research on Genetics often connects related topics like Autism spectrum disorder. Her Autism study integrates concerns from other disciplines, such as Additive genetic effects, Single-nucleotide polymorphism, Human genome and Genetic variation.

Her studies in Genetic testing integrate themes in fields like Confounding, Down syndrome, breakpoint cluster region and Bioinformatics. Her Bioinformatics research is multidisciplinary, incorporating perspectives in Personal genomics, Sudden cardiac death, Pediatrics and Medical genetics. Her Heritability of autism research incorporates themes from CNTNAP2 and Regulation of gene expression.

Her most cited work include:

  • Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies (1777 citations)
  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (1720 citations)
  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (1570 citations)

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

Christa Lese Martin mainly focuses on Genetics, Copy-number variation, Autism, Genetic testing and Autism spectrum disorder. Her biological study spans a wide range of topics, including Penetrance, Human genome, Human genetics and Clinical significance. Christa Lese Martin usually deals with Autism and limits it to topics linked to Clinical psychology and Cognition.

Her research in Genetic testing tackles topics such as Medical genetics which are related to areas like Personalized medicine. Christa Lese Martin has researched Autism spectrum disorder in several fields, including Cohort and Neuropsychology. Her work in the fields of Intelligence quotient and Schizophrenia overlaps with other areas such as Bipolar disorder.

She most often published in these fields:

  • Genetics (43.57%)
  • Copy-number variation (23.57%)
  • Autism (20.71%)

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

  • Copy-number variation (23.57%)
  • Autism spectrum disorder (13.57%)
  • Computational biology (9.29%)

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

Her main research concerns Copy-number variation, Autism spectrum disorder, Computational biology, Clinical psychology and Family medicine. The subject of her Copy-number variation research is within the realm of Genetics. Her Autism spectrum disorder research is included under the broader classification of Autism.

Her Autism research is multidisciplinary, relying on both Protective factor, Genetic variation, Pediatrics and Neuropsychology. Christa Lese Martin has researched Computational biology in several fields, including Gene, DNA sequencing and Medical genetics. Her biological study spans a wide range of topics, including Exome and Genomics.

Between 2018 and 2021, her most popular works were:

  • Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). (127 citations)
  • Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. (72 citations)
  • A framework for the investigation of rare genetic disorders in neuropsychiatry (36 citations)

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

  • Gene
  • Genetics
  • Genome

Her primary areas of study are Resource, Autism spectrum disorder, Autism, Data sharing and Genomics. Resource is intertwined with Genome, Precision medicine and Domain in her research. Christa Lese Martin has included themes like Phenotype, Exome sequencing, Gene and Computational biology in her Autism spectrum disorder study.

Her research in Autism intersects with topics in Global developmental delay, Intellectual disability, Meta-analysis, Pediatrics and Genetic testing. Christa Lese Martin integrates many fields, such as Data sharing and engineering, in her works. The Genomics study combines topics in areas such as Medical genetics and Copy-number variation.

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

Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker.
American Journal of Human Genetics (2010)

2661 Citations

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green;Robert C. Green;Jonathan S. Berg;Wayne W. Grody;Sarah S. Kalia.
Genetics in Medicine (2013)

2297 Citations

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

S. Hong Lee;Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Stephen V. Faraone.
Nature Genetics (2013)

2097 Citations

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia;Kathy Adelman;Sherri J. Bale;Wendy K. Chung.
Genetics in Medicine (2017)

1776 Citations

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Stephan J. Sanders;A. Gulhan Ercan-Sencicek;Vanessa Hus;Rui Luo.
Neuron (2011)

1348 Citations

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Stephan J. Sanders;Xin He;A. Jeremy Willsey;A. Gulhan Ercan-Sencicek.
Neuron (2015)

1153 Citations

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

Maricela Alarcón;Brett S. Abrahams;Jennifer L. Stone;Jacqueline A. Duvall.
American Journal of Human Genetics (2008)

939 Citations

ClinGen — The Clinical Genome Resource

Heidi L. Rehm;Jonathan S. Berg;Lisa D. Brooks;Carlos D. Bustamante.
The New England Journal of Medicine (2015)

860 Citations

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer.
Nucleic Acids Research (2014)

828 Citations

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Colm O'Dushlaine;Lizzy Rossin;Phil H. Lee;Laramie Duncan;Laramie Duncan.
Nature Neuroscience (2015)

599 Citations

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