Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

G. Nicolas · SciRah

Researcher profile · Semantic Scholar

G. Nicolas

Share profile

G. Nicolas — researcher profile on SciRah

h-index: 57
Works: 270
Citations: 19K

Most-cited papers

New insights into the genetic etiology of Alzheimer’s disease and related dementias
C. Bellenguez, F. Küçükali, I. Jansen, L. Kleineidam +496 more
2022Nature Genetics1,984 citations Open access
Semantic Scholar
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
H. Holstege, M. Hulsman, C. Charbonnier, B. Grenier-Boley +103 more
2022Nature Genetics181 citations Open access
Semantic Scholar
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
I. Jansen, S. J. van der Lee, Duber Gomez-Fonseca, I. de Rojas +142 more
2022Acta Neuropathologica119 citations Open access
Semantic Scholar
Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review
Alexander Balck, S. Schaake, Neele Kuhnke, Aloysius Domingo +12 more
2021Movement Disorders87 citations Open access
Semantic Scholar
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.
Y. le Guen, M. Belloy, B. Grenier-Boley, I. de Rojas +105 more
2022JAMA Neurology76 citations Open access
Semantic Scholar
Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease
Jiao Luo, J. Thomassen, C. Bellenguez, B. Grenier-Boley +92 more
2023JAMA Network Open71 citations Open access
Semantic Scholar
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
Y. le Guen, G. Luo, A. Ambati, V. Damotte +139 more
2023Proceedings of the National Academy of Sciences of the United States of America55 citations Open access
Semantic Scholar
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, B. Cogné, A. Santini, E. Leitão +260 more
2024Nature Genetics49 citations Open access
Semantic Scholar
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
V. Chelban, Henriette Aksnes, R. Maroofian, Lauren C. LaMonica +55 more
2024Nature Communications37 citations Open access
Semantic Scholar
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
L. Grangeon, K. Cassinari, S. Rousseau, B. Croisile +12 more
2021Neurology: Genetics30 citations Open access
Semantic Scholar
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, F. Lecoquierre, G. Nicolas, A. Richard +94 more
2023European Journal of Human Genetics29 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover
C. Rondelli, Mark Perfetto, A. Danoff, H. Bergonia +8 more
2021Journal of Biological Chemistry27 citations Open access
Semantic Scholar
Brain malformations and seizures by impaired chaperonin function of TRiC
Florian Kraft, Piere Rodriguez-Aliaga, Wei-Xi Yuan, L. Franken +83 more
2024Science25 citations Open access
Semantic Scholar
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
A. Deshwar, C. Cytrynbaum, Harsha R. Murthy, Jessica Zon +41 more
2022Brain : a journal of neurology25 citations Open access
Semantic Scholar
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
C. Schramm, C. Charbonnier, A. Zaréa, Morgane Lacour +8 more
2022Genome Medicine24 citations Open access
Semantic Scholar
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations
A. Nicolas, R. Sherva, B. Grenier-Boley, Yoontae Kim +406 more
2025Nature Genetics23 citations Open access
Semantic Scholar
Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening.
G. Nicolas, A. Zaréa, Morgane Lacour, O. Quenez +114 more
2024Genetics in Medicine21 citations Open access
Semantic Scholar
Machine learning in Alzheimer’s disease genetics
M. Bracher-Smith, Federico Melograna, B. Ulm, C. Bellenguez +108 more
2025Nature Communications17 citations Open access
Semantic Scholar
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
Servane de Masfrand, B. Cogné, M. Nizon, W. Deb +18 more
2024European Journal of Medical Genetics17 citations Open access
Semantic Scholar
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers
D. Wallon, Susana Boluda, A. Rovelet-Lecrux, Manon Thierry +24 more
2021Acta Neuropathologica16 citations Open access
Semantic Scholar
The microbiota and the host organism switch between cooperation and competition based on dietary iron levels
Marie‐Louise Noordine, Yohannes Seyoum, A. Bruneau, K. Baye +6 more
2024Gut microbes15 citations Open access
Semantic Scholar
Phenotype and imaging features associated with APP duplications
L. Grangeon, C. Charbonnier, A. Zaréa, S. Rousseau +36 more
2023Alzheimer's Research & Therapy15 citations Open access
Semantic Scholar
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
Juliette Coursimault, A. Rovelet-Lecrux, K. Cassinari, E. Brischoux-Boucher +13 more
2022Human Mutation15 citations
Semantic Scholar
Cerebrospinal Fluid Profile of Tau, Phosphorylated Tau, Aβ42, and Aβ40 in Probable Cerebral Amyloid Angiopathy
L. Grangeon, C. Paquet, S. Guey, A. Zaréa +8 more
2022Journal of Alzheimer's Disease15 citations
Semantic Scholar
Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer’s disease with APPdup and Down syndrome
Amal Kasri, Elena Camporesi, Eleni Gkanatsiou, Susana Boluda +16 more
2024Acta Neuropathologica14 citations Open access
Semantic Scholar
Recent advances in Alzheimer disease genetics
G. Nicolas
2024Current Opinion in Neurology13 citations
Semantic Scholar
Primary Brain Calcification: An International Consensus on Nomenclature, Diagnosis, Evaluation, and Management
W. Luo, Z. Cen, H. Koek, M. Carecchio +19 more
2025Movement Disorders12 citations
Semantic Scholar
Prenatal Alcohol Exposure Impairs the Placenta–Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways
C. Sautreuil, M. Lecointre, C. Derambure, C. Brasse-Lagnel +9 more
2023International Journal of Molecular Sciences10 citations Open access
Semantic Scholar
Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias
Céline Atahualpa Najaf Sven J. Manon Kayenat Fahri Benjam Bellenguez Castillo Morales Amin van der Lee Munta, C. Bellenguez, Atahualpa Castillo Morales, N. Amin +496 more
2026Nature Genetics9 citations Open access
Semantic Scholar
Systematic analysis of snRNA genes reveals frequent RNU2–2 variants in dominant and recessive developmental and epileptic encephalopathies
E. Leitão, A. Santini, B. Cogné, Myriam Essid +202 more
2025medRxiv9 citations Open access
Semantic Scholar
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
P. J. van der Sluijs, M. Gösgens, A. Dingemans, P. Striano +82 more
2024Genetics in medicine open9 citations Open access
Semantic Scholar
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
F. Lecoquierre, O. Quenez, Steeve Fourneaux, S. Coutant +14 more
2023Human Genetics9 citations
Semantic Scholar
Protective association of HLA‐DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences
Yann Le Guen, G. Luo, A. Ambati, V. Damotte +136 more
2022Alzheimer's & Dementia9 citations
Semantic Scholar
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Laurence Pacot, M. Blok, D. Vidaud, L. Fertitta +56 more
2025Journal of Medical Genetics8 citations Open access
Semantic Scholar
How local reference panels improve imputation in French populations
A. Herzig, Lourdes Velo-Suárez, Dominique Campion, J. Dartigues +41 more
2024Scientific Reports8 citations Open access
Semantic Scholar
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.
Quentin Sabbagh, S. Haghshenas, J. Piard, Chloé Trouvé +62 more
2023Genetics in Medicine8 citations Open access
Semantic Scholar
Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease
H. Holstege, M. Hulsman, C. Charbonnier, B. Grenier-Boley +100 more
2021Alzheimer's & Dementia8 citations
Semantic Scholar
APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers’s disease
J. Thomassen, L. Hampton, Brittany Ulms, B. Grenier-Boley +128 more
2025medRxiv7 citations Open access
Semantic Scholar
Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling
F. Lecoquierre, Nathalie Drouot, S. Coutant, O. Quenez +13 more
2025PLoS Genetics7 citations Open access
Semantic Scholar
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
F. Lecoquierre, K. Cassinari, Nathalie Drouot, Angèle May +8 more
2024Scientific Reports7 citations Open access
Semantic Scholar
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Z. Gokce-Samar, A. Vetro, J. de Bellescize, Tiziana Pisano +60 more
2024Neurology7 citations Open access
Semantic Scholar
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
N. Vos, S. Haghshenas, Liselot van der Laan, P. M. Russel +56 more
2024Human Genetics7 citations Open access
Semantic Scholar
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
M. Vezain, C. Thauvin-Robinet, Y. Vial, S. Coutant +8 more
2022Human Genetics7 citations
Semantic Scholar
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
G. Nicolas, Myriam Sévigny, F. Lecoquierre, F. Marguet +28 more
2022Acta Neuropathologica Communications7 citations Open access
Semantic Scholar
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
K. Yauy, F. Lecoquierre, S. Baert-Desurmont, D. Trost +25 more
2022Genetics in Medicine7 citations Open access
Semantic Scholar
Lessons from genetic studies in Alzheimer disease.
G. Nicolas
2024Revue neurologique (Paris)6 citations Open access
Semantic Scholar
Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks
Audrey Coulon, F. Rabiller, M. Takalo, Avishek Roy +62 more
2026bioRxiv5 citations Open access
Semantic Scholar
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
E. Leitão, A. Santini, B. Cogné, Miriam Essid +224 more
2026Nature Genetics5 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

A. Boland×17
Invite
A. Boland — researcher profile on SciRah
C. Bellenguez×14
Invite
C. Bellenguez — researcher profile on SciRah
B. Grenier-Boley×14
Invite
B. Grenier-Boley — researcher profile on SciRah
F. Lecoquierre×14
Invite
F. Lecoquierre — researcher profile on SciRah

×13

Invite

C. Charbonnier — researcher profile on SciRah

Invite

S. Debette — researcher profile on SciRah

H. Holstege×12

Invite

H. Holstege — researcher profile on SciRah

Invite

C. Masullo — researcher profile on SciRah

Invite

B. Nacmias — researcher profile on SciRah

S. Riedel-Heller×11

Invite

S. Riedel-Heller — researcher profile on SciRah

Invite

R. Sims — researcher profile on SciRah

P. Sánchez-Juan×11

Invite

P. Sánchez-Juan — researcher profile on SciRah