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Author/Creator Moutton, Sebastien

1. A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy. Issue 3 (11th August 2019)

Authors:
Lauritano, Anna; Moutton, Sebastien; Longobardi, Elena; Tran Mau‐Them, Frédéric; Laudati, Giusy; Nappi, Piera; Soldovieri, Maria Virginia; Ambrosino, Paolo; Cataldi, Mauro; Jouan, Thibaud; Lehalle, Daphné; Maurey, Hélène; Philippe, Christophe; Miceli, Francesco; Vitobello, Antonio; Taglialatela, ...
Journal:
Epilepsia open
Issue:
Volume 4:Issue 3(2019)
Page Start:
464
Record Type:
Journal Article
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2. Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures. (26th April 2019)

Authors:
Denis, Julien; Villeneuve, Nathalie; Cacciagli, Pierre; Mignon‐Ravix, Cecile; Lacoste, Caroline; Lefranc, Jeremie; Napuri, Sylvia; Damaj, Lena; Villega, Frederic; Pedespan, Jean‐Michel; Moutton, Sebastien; Mignot, Cyril; Doummar, Diane; Lion‐François, Laurence; Gataullina, Svetlana; Dulac, Olivie...
Journal:
Epilepsia
Issue:
Volume 60:issue 5(2019)
Page Start:
845
Record Type:
Journal Article
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3. Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Issue 12 (30th October 2021)

Authors:
Tran Mau‐Them, Frederic; Duffourd, Yannis; Vitobello, Antonio; Bruel, Ange‐Line; Denommé‐Pichon, Anne‐Sophie; Nambot, Sophie; Delanne, Julian; Moutton, Sebastien; Sorlin, Arthur; Couturier, Victor; Bourgeois, Valentin; Chevarin, Martin; Poe, Charlotte; Mosca‐Boidron, Anne‐Laure; Callier, Patrick;...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 12(2021)
Page Start:
n/a
Record Type:
Journal Article
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4. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019)

Authors:
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ...
Other Names:
investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
449
Record Type:
Journal Article
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5. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019)

Authors:
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ...
Other Names:
investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
449
Record Type:
Journal Article
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6. Variants of human CLDN9 cause mild to profound hearing loss. Issue 10 (1st August 2021)

Authors:
Ramzan, Memoona; Philippe, Christophe; Belyantseva, Inna A.; Nakano, Yoko; Fenollar‐Ferrer, Cristina; Tona, Risa; Yousaf, Rizwan; Basheer, Rasheeda; Imtiaz, Ayesha; Faridi, Rabia; Munir, Zunaira; Idrees, Hafiza; Salman, Midhat; Nambot, Sophie; Vitobello, Antonio; Kartti, Souad; Zarrik, Oumaima; W...
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1321
Record Type:
Journal Article
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