Glen R. Monroe - Concepedia

Author

Glen R. Monroe

Also Known As

Bobby Koeleman, G Monroe, G. Monroe, G.J. Monroe, Glen Monroe, Glen R Monroe, Glen R. Monroe, Monroe, G.R., Monroe, Glen

Publications

Citations

H-Index

Concepts

All Affiliations

University Medical Center Utrecht Utrecht University Radboud University Nijmegen Wilhelmina Children's Hospital University Medical Center Groningen

About

Glen R. Monroe is an author at University Medical Center Utrecht specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	1.2K
2	Natural Sciences	3	3	388
3	Education	1	1	180
4	Biochemistry	1	1	118
5	Biology	1	1	111

Glen R. Monroe

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg, Genetics in Medicine Intellectual ImpairmentGenetic TestingMendelian DisorderTraditional Diagnostic TrajectoryWhole-exome Sequencing	2016	180
Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease Caroline L. Wiegerinck, Andreas Janecke, Kerstin Schneeberger, Gastroenterology ImmunodeficienciesPathogenesisImmunologyPathologySyntaxin 3	2014	172
De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms Karin Weiss, Lior Cohen, Michael Bruccoleri, The American Journal of Human Genetics ChromatinChromatin StructureDistinctive DysmorphismsGenetic DisorderIntellectual Disability Syndrome	2016	154
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht, Human Genetics Mendelian DisorderGenetic DisorderGeneticsFrequent CauseFragile X Spectrum	2014	124
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder Noa Lipstein, Nanda M. Verhoeven‐Duif, Francesco Michelassi, Journal of Clinical Investigation Dyskinetic Movement DisorderSynaptic TransmissionNeurotransmitterNeurotransmissionCellular Neurobiology	2017	122
Monocarboxylate Transporter 1 Deficiency and Ketone Utilization Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe, New England Journal of Medicine GeneticsPathologyMolecular GeneticsDisease Gene IdentificationCellular Physiology	2014	118
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Lot Snijders Blok, Justine Rousseau, Joanna Twist, Nature Communications Brain DevelopmentGeneticsMolecular BiologyMolecular GeneticsDisease Gene Identification	2018	116
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT Nayia Nicolaou, Sara L. Pulit, Isaäc J. Nijman, Kidney International BiologyCandidate GenesBurden AnalysisAllelic VariantRare Variants	2015	111
Identification of human D lactate dehydrogenase deficiency Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Nature Communications	2019	83
Joubert syndrome: genotyping a Northern European patient cohort Hester Y. Kroes, Glen R. Monroe, Bert van der Zwaag, European Journal of Human Genetics Mendelian DisorderGenetic DisorderJoubert SyndromeGenetic EpidemiologyPediatrics	2015	77

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