Author

Thuy-Linh Le

Observed name: Le, Thuy-Linh

Institutions: Inserm, Université Paris Cité, Institut des Maladies Génétiques Imagine

Observed institutions: Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Institut Pasteur, Université Paris Cité, Sorbonne Paris Cité, Assistance Publique – Hôpitaux de Paris, Gènes, synapses et cognition, Institut des Maladies Génétiques Imagine, Université Paris Descartes

ORCID: 0009-0009-6857-8435

Observed ORCID: 0009-0009-6857-8435

OpenAlex ID: A5104274342

Operative list of genes associated with autism and neurodevelopmental disorders based on database review

2021 · Claire S. Leblond, Thuy-Linh Le, et al. · Molecular and Cellular Neuroscience · 136

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Duco Schriemer, et al. · Genome biology · 90

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

2021 · Thuy-Linh Le, Louise Galmiche, et al. · Journal of Clinical Investigation · 47

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease

2016 · Clara Sze-man Tang, Hongsheng Gui, et al. · Human Molecular Genetics · 42

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

2020 · Thuy-Linh Le, Yunia Sribudiani, et al. · The American Journal of Human Genetics · 34

Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

2023 · Irenaeus F.M. de Coo, Sarah Jesse, et al. · European Journal of Medical Genetics · 22

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

2023 · Eden Engal, Kaisa Teele Oja, et al. · The American Journal of Human Genetics · 21

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

2024 · Elizabeth A. Werren, Geneva R. LaForce, et al. · Nature Communications · 8

Biallelic loss of function variants in WBP4 , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

2023 · Eden Engal, Kaisa Teele Oja, et al. · medRxiv · 2

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

2022 · Elizabeth Werren, Geneva R. LaForce, et al. · bioRxiv (Cold Spring Harbor Laboratory)

Genetics of Hirschsprung disease

2020 · Thuy-Linh Le

Additional file 4: Table S3. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 5: Table S4. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 6: Table S5. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 10: Table S9. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 12: Table S11. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 8: Table S7. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 9: Table S8. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 7: Table S6. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 1: Table S1. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 11: Table S10. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 3: Table S2. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Hongsheng Gui, Schriemer, Duco, et al. · Figshare

Additional file 2: of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

2017 · Gui, Hongsheng, Schriemer, Duco, et al. · Figshare

Works count: 25

Citation count: 402

H-index: 8

I10-index: 7