Cindy Colson - Concepedia

Author

Cindy Colson

Also Known As

C. Colson, C. Picard, Cindy COLSON, Cindy Colson, Colson, C., Colson, Cindy, Kestutis Micke, Laurence Bellengier, Roseline Caumes, Thomas Smol

Publications

699

Citations

H-Index

Concepts

All Affiliations

Inserm Assistance Publique – Hôpitaux de Paris Centre Hospitalier Universitaire de Caen Normandie Université de Caen Normandie Centre Hospitalier Universitaire de Lille

About

Cindy Colson is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	169
2	Public Health	1	1	24
3	Biostatistics	1	1	24
4	Endocrinology	1	1	25
5	Genetic Medicine	1	1	25

Cindy Colson

Publications

532

Citations

H-Index

Page 1

	Year	Citations
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease Gillian Rice, Naoki Kitabayashi, Magalie Barth, Neuropediatrics	2017	90
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders Hui Guo, Elisa Bettella, Paul C. Marcogliese, Nature Communications	2019	59
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype Thomas Smol, Florence Petit, Amélie Piton, Neurogenetics Intellectual ImpairmentGenetic DisorderMed13l-related Intellectual DisabilityGenetic EpidemiologyRehabilitation	2018	42
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation Aline Gaub, Bilal N. Sheikh, M. Felicia Basilicata, Nature Communications	2020	40
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder Marion Gérard, Gilles Morin, A. Bourillon, European Journal of Medical Genetics Developmental AnomalyCobalamin DisorderMultiple Congenital AnomaliesMendelian DisorderGenetic Disorder	2015	36
Loss of Methylation at GNAS Exon A/B Is Associated With Increased Intrauterine Growth Anne‐Claire Bréhin, Cindy Colson, Stéphanie Maupetit‐Mehouas, The Journal of Clinical Endocrinology & Metabolism	2015	33
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Federico Tessadori, Karen Duran, Karen Knapp, The American Journal of Human Genetics	2022	31
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Caroline Nava, Benjamin Cogné, A. Santini, Nature Genetics	2025	26
<scp>SF1</scp> and spleen development: new heterozygous mutation, literature review and consequences for <i><scp>NR5A1</scp>‐</i>mutated patient's management Cindy Colson, Évelyne Aubry, Maryse Cartigny, Clinical Genetics SpermatogenesisSpleen Development AnomaliesGeneticsPathologyMolecular Genetics	2016	25
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations Anne‐Sophie Jourdain, Florence Petit, Marie‐Françoise Odou, Human Mutation GeneticsGenetic EpidemiologyHigh ThroughputPathologyDisease Gene Identification	2019	24

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