F. Hamdan

Laurent Mottron, Pierre Drapeau, Dan Spiegelman, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in TMEM231 cause Joubert syndrome in French Canadians

D. Labuda, E. Lemyre, G. Rouleau, 2012, Journal of Medical Genetics.

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

G. Rouleau, Eunjoon Kim, T. Kleefstra, 2015, Human mutation.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

D. Labuda, G. Rouleau, K. Boycott, 2012, American journal of human genetics.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Jonathan M. Mudge, J. Harrow, A. Frankish, 2019, npj Genomic Medicine.

Recessive mutations in VPS13D cause childhood onset movement disorders

H. Prokisch, I. Glass, D. Krainc, 2018, Annals of neurology.

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

Philippe P Roux, R. Joober, G. Rouleau, 2013, Journal of Medical Genetics.

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

A. Mégarbané, F. Hamdan, J. Michaud, 2015, European journal of medical genetics.

Homozygous deletion of Tenascin-R in a patient with intellectual disability

J. Rosenfeld, B. Torchia, B. Rosenblatt, 2012, Journal of Medical Genetics.

A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies

G. Rouleau, F. Hamdan, J. Michaud, 2018, American journal of medical genetics. Part A.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

S. Scherer, C. Cytrynbaum, C. Marshall, 2018, Journal of Medical Genetics.

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

F. Hamdan, J. Michaud, W. Lissens, 2014, Clinical genetics.

De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia

L. DeLisi, J. Rapoport, E. Fombonne, 2010, Biological Psychiatry.

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function

M. Avoli, J. Lacaille, M. Lévesque, 2016, Nature Communications.

A Gain‐of‐Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

M. Zhen, G. Rouleau, F. Hamdan, 2015, Human mutation.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

Use of an in situ disulfide cross-linking strategy to map proximities between amino acid residues in transmembrane domains I and VII of the M3 muscarinic acetylcholine receptor.

J. Wess, F. Hamdan, S. Ward, 2002, Biochemistry.

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

E. Fombonne, S. Aradhya, M. Dubé, 2008, Human molecular genetics.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

High-Throughput Screening of G Protein-Coupled Receptor Antagonists Using a Bioluminescence Resonance Energy Transfer 1-Based β-Arrestin2 Recruitment Assay

J. Pelletier, F. Hamdan, P. Garneau, 2005, Journal of biomolecular screening.

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

M. Sayeed, G. Rouleau, F. Hamdan, 2017, Clinical genetics.

Distinct Structural Changes in a G Protein-coupled Receptor Caused by Different Classes of Agonist Ligands*

J. Wess, K. Jacobson, F. Hamdan, 2007, Journal of Biological Chemistry.

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

J. Rosenfeld, G. Rouleau, N. Koibuchi, 2017, American journal of human genetics.

Calcitonin gene-related peptide analogues with aza and indolizidinone amino acid residues reveal conformational requirements for antagonist activity at the human calcitonin gene-related peptide 1 receptor.

F. Hamdan, M. Bouvier, W. Lubell, 2007, Journal of medicinal chemistry.

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

C. Fallet-Bianco, D. Labuda, E. Brustein, 2015, Journal of Medical Genetics.

Monitoring Protein‐Protein Interactions in Living Cells by Bioluminescence Resonance Energy Transfer (BRET)

F. Hamdan, Y. Percherancier, M. Bouvier, 2006, Current protocols in neuroscience.

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

M. Tartaglia, F. Hamdan, N. Blau, 2019, Parkinsonism & related disorders.

M3-muscarinic receptor promotes insulin release via receptor phosphorylation/arrestin-dependent activation of protein kinase D1

J. Wess, A. Tobin, F. Hamdan, 2010, Proceedings of the National Academy of Sciences.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control

A. Berardelli, F. Charron, F. Hamdan, 2023, Science advances.

De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability.

B. Rosenblatt, F. Hamdan, M. Srour, 2013, European journal of medical genetics.

VRQ397 (CRAVKY): a novel noncompetitive V2 receptor antagonist.

N. Heveker, F. Hamdan, G. Guillon, 2009, American journal of physiology. Regulatory, integrative and comparative physiology.

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

E. Fombonne, J. Lacaille, L. Mottron, 2009, Archives of neurology.

Ligand-specific changes in M3 muscarinic acetylcholine receptor structure detected by a disulfide scanning strategy.

J. Wess, K. Jacobson, F. Hamdan, 2008, Biochemistry.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2018, Genetics in Medicine.

Metabolic roles of the M3 muscarinic acetylcholine receptor studied with M3 receptor mutant mice: a review.

J. Wess, C. Deng, O. Gavrilova, 2008, Journal of Receptor and Signal Transduction Research.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

D. Pinto, S. Scherer, T. Bourgeron, 2012, American journal of human genetics.

The genetic landscape of infantile spasms.

H. Mefford, L. Carmant, E. Lemyre, 2014, Human molecular genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Mutations in TMEM231 cause Joubert syndrome in French Canadians

D. Labuda, E. Lemyre, G. Rouleau, 2012, Journal of Medical Genetics.

A Schistosoma mansoni Pad1 homologue stabilizes c-Jun.

F. Hamdan, P. Ribeiro, J. Nabhan, 2001, Molecular and biochemical parasitology.

Neuronal M3 muscarinic acetylcholine receptors are essential for somatotroph proliferation and normal somatic growth

J. Wess, O. Gavrilova, D. Gautam, 2009, Proceedings of the National Academy of Sciences.

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

J. Rosenfeld, G. Rouleau, N. Koibuchi, 2017, American journal of human genetics.