Kristin G. Monaghan - Concepedia

Author

Kristin G. Monaghan

Also Known As

K.G. Monaghan, Kristin G Monaghan, Kristin G. Monaghan, Kristin Monaghan, Kristin G. Monaghan, Meira R. Meltzer, Milko, Laura V., Monaghan, Kristin G, Monaghan, Kristin G.

Publications

2.2K

Citations

H-Index

Concepts

All Affiliations

Inserm Boston Children's Hospital Baylor College of Medicine Children's Hospital of Philadelphia Radboud University Nijmegen

About

Kristin G. Monaghan is an author at Inserm specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	19	1.6K
2	Social Sciences	7	7	390
3	Engineering	1	1	92
4	Health Sciences	1	1	14
5	Public Health	1	1	96

Kristin G. Monaghan

Publications

2.1K

Citations

H-Index

Page 1

	Year	Citations
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling Lot Snijders Blok, Erik Madsen, Jane Juusola, The American Journal of Human Genetics Unexplained Intellectual DisabilityGender-specific EffectsMendelian DisorderGenetic DisorderGenetics	2015	324
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss Akemi Tanaka, Megan T. Cho, Francisca Millan, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologySpata5 Are AssociatedGenetic DisorderGenetics	2015	158
Prophylactic total gastrectomy for familial gastric cancer Frank R. Lewis, John D. Mellinger, Allen Hayashi, Surgery Surgical OncologyMedicineGastroenterologySurgeryUpper Gastrointestinal Surgery	2001	140
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder Sébastien Küry, Thomas Besnard, Frédéric Ebstein, The American Journal of Human Genetics Molecular NeuroscienceDevelopmental BiologyDe Novo DisruptionSyndromic Neurodevelopmental DisorderMedicine	2017	107
Prostate cancer risk from occupational exposure to polycyclic aromatic hydrocarbons interacting with the GSTP1 Ile105Val polymorphism Benjamin A. Rybicki, Christine Neslund‐Dudas, Nora L. Nock, Cancer Detection and Prevention Occupational ToxicologyUrologyCancer RiskAromatic HydrocarbonsOccupational Health Sciences	2006	96
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients Laura Bryant, Dong Li, Samuel G. Cox, Science Advances	2020	96
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions Brieana Fregeau, Bum‐Joon Kim, Andrés Hernández, The American Journal of Human Genetics EngineeringGenetic DisorderMedicineGeneticsRere Cause	2016	92
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation Chris Balak, Marianne Bénard, Élise Schaefer, The American Journal of Human Genetics Rna DysregulationAllelic VariantGenetic DisorderMedicineGenetics	2019	84
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, The American Journal of Human Genetics Rare CauseGeneticsPathologyNoonan SyndromeRras2 Are	2019	80
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, The American Journal of Human Genetics Down SyndromeDeletion SyndromeDevelopmental BiologyGenetic DisorderGenetics	2021	80

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