T. Courtin

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Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

Incomplete annotation of disease-associated genes is limiting our 1 understanding of Mendelian and complex neurogenetic disorders 2

Sebastian Guelfi, M. Ryten, A. Jaffe, 2019 .

Incomplete annotation of OMIM genes is likely to be limiting the diagnostic yield of genetic testing, particularly for neurogenetic disorders

J. Hardy, Sebastian Guelfi, M. Ryten, 2018, bioRxiv.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Jacob O Day, R. Maroofian, H. Houlden, 2022, Brain : a journal of neurology.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

R. Schiffmann, O. Boespflug-Tanguy, F. Mochel, 2019, American Journal of Neuroradiology.

Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation.

A. Represa, A. Gelot, B. Keren, 2022, Journal of neuropathology and experimental neurology.

The commercial genetic testing landscape for Parkinson's disease.

I. König, C. Blauwendraat, M. Farrer, 2021, Parkinsonism & related disorders.

Monogenic PD in Brazil: a step towards precision medicine.

A. Brice, T. Courtin, 2021, Arquivos de neuro-psiquiatria.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.

J. Thevenon, L. Faivre, B. Keren, 2021, European Journal of Medical Genetics.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

W. Chung, S. Leal, F. Zou, 2021, Journal of Medical Genetics.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

Leonardo Collado-Torres, Andrew E. Jaffe, Juan A. Botía, 2020, Science Advances.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Bassem A. Hassan, W. Mandemakers, B. Hassan, 2022, Brain : a journal of neurology.

Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism

S. Lesage, J. Corvol, N. le Forestier, 2023, Movement disorders clinical practice.

Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO

J. Rosenfeld, M. Patterson, Yaping Yang, 2019, American journal of medical genetics. Part A.

Characterization of Recessive Parkinson Disease in a Large Multicenter Study

A. Singleton, M. Vidailhet, F. Viallet, 2020, Annals of neurology.

Differences in Survival across Monogenic Forms of Parkinson's Disease

A. Brice, S. Lesage, J. Corvol, 2023, Annals of neurology.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

J. Hardy, M. Ryten, A. Jaffe, 2020, Science Advances.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.