Norbert Fonya Ajeawung

Author

Centre Hospitalier Universitaire Sainte-Justine

Also Known As

Kamnasaran, N. Ajeawung, Norbert Ajeawung, Norbert F Ajeawung, Norbert F. Ajeawung, Norbert Fonya Ajeawung

Publications

692

Citations

H-Index

Concepts

All Affiliations

Centre Hospitalier Universitaire Sainte-Justine Université de Montréal Baylor College of Medicine McGill University Université Laval

About

Norbert Fonya Ajeawung is an author at Centre Hospitalier Universitaire Sainte-Justine specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	421
2	Molecular Biology	3	3	156
3	Cell Biology	2	2	49
4	Natural Sciences	1	1	102
5	Social Sciences	1	1	34

Norbert Fonya Ajeawung

Publications

624

Citations

H-Index

Page 1

	Year	Citations
<i>TBC1D24</i> genotype–phenotype correlation Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Neurology	2016	126
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, The American Journal of Human Genetics ChromatinGenome InstabilityChromatin StructureChromatin RemodelingGenetic Disorder	2016	102
Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, The American Journal of Human Genetics Cerebellar AtrophyMendelian DisorderGenetic DisorderGeneticsMolecular Biology	2017	64
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1 Norbert Fonya Ajeawung, Thi Tuyet Mai Nguyen, Linchao Lu, The American Journal of Human Genetics Scaffold SubunitMendelian DisorderGenetic DisorderGeneticsPathogenesis	2019	64
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsInherited Metabolic Disease	2019	51
NPAS3 Demonstrates Features of a Tumor Suppressive Role in Driving the Progression of Astrocytomas Frederico Rafael Moreira, Tim‐Rasmus Kiehl, Kelvin So, American Journal Of Pathology	2011	34
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay Bettina E. Mucha, Siddharth Banka, Norbert Fonya Ajeawung, Genetics in Medicine Neurobiology Of DiseaseGenetic DisorderNeuroscienceNew Microdeletion SyndromeMolecular Neurobiology	2018	34
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome Jean‐Luc Alessandri, Christopher T. Gordon, Marie‐Line Jacquemont, European Journal of Human Genetics Fryns SyndromeAllelic VariantDevelopmental BiologyGenetic DisorderGenetics	2018	31
DOORS syndrome and a recurrent truncating ATP6V1B2 variant Éliane Beauregard‐Lacroix, G. Pacheco-Cuellar, Norbert Fonya Ajeawung, Genetics in Medicine Genetic DisorderPathogenesisMolecular BiologyPathologyDoors Syndrome	2020	28
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Journal of Human Genetics Developmental AnomalyThumb HypoplasiaPediatricsAbsent Terminal PhalangesDermatology	2016	18

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