Publications:

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Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.

Nature Communications

Mitchell, Brittany L BL; Saklatvala, Jake R JR; Dand, Nick N; Hagenbeek, Fiona A FA; Li, Xin X; Min, Josine L JL; Thomas, Laurent L; Bartels, Meike M; Jan Hottenga, Jouke J; Lupton, Michelle K MK; Boomsma, Dorret I DI; Dong, Xianjun X; Hveem, Kristian K; Løset, Mari M; Martin, Nicholas G NG; Barker, Jonathan N JN; Han, Jiali J; Smith, Catherine H CH; Rentería, Miguel E ME; Simpson, Michael A MA

Publication Date: 2022-02-07

Variant appearance in text: rs3773364

PubMed Link: 35132056

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28252.pdf
• 41467_2022_28252_MOESM1_ESM.pdf

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Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.

Nature Communications

Mitchell, Brittany L BL; Saklatvala, Jake R JR; Dand, Nick N; Hagenbeek, Fiona A FA; Li, Xin X; Min, Josine L JL; Thomas, Laurent L; Bartels, Meike M; Jan Hottenga, Jouke J; Lupton, Michelle K MK; Boomsma, Dorret I DI; Dong, Xianjun X; Hveem, Kristian K; Løset, Mari M; Martin, Nicholas G NG; Barker, Jonathan N JN; Han, Jiali J; Smith, Catherine H CH; Rentería, Miguel E ME; Simpson, Michael A MA

Publication Date: 2022-02-07

Variant appearance in text: rs3773364

PubMed Link: 35132056

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28252.pdf
• 41467_2022_28252_MOESM1_ESM.pdf

View BVdb publication page

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Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

International Journal Of Molecular Sciences

Thakran, Sarita S; Guin, Debleena D; Singh, Pooja P; Singh, Priyanka P; Kukal, Samiksha S; Rawat, Chitra C; Yadav, Saroj S; Kushwaha, Suman S SS; Srivastava, Achal K AK; Hasija, Yasha Y; Saso, Luciano L; Ramachandran, Srinivasan S; Kukreti, Ritushree R

Publication Date: 2020-10-21

Variant appearance in text: rs3773364

PubMed Link: 33096746

Variant Present in the following documents:

• Main text
• ijms-21-07784.pdf

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Intersectin associates with synapsin and regulates its nanoscale localization and function.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Gerth, Fabian F; Jäpel, Maria M; Pechstein, Arndt A; Kochlamazashvili, Gaga G; Lehmann, Martin M; Puchkov, Dmytro D; Onofri, Franco F; Benfenati, Fabio F; Nikonenko, Alexander G AG; Fredrich, Kristin K; Shupliakov, Oleg O; Maritzen, Tanja T; Freund, Christian C; Haucke, Volker V

Publication Date: 2017-11-07

Variant appearance in text: rs3773364

PubMed Link: 29078407

Variant Present in the following documents:

• pnas.201715341.pdf

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Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders.

Neural Plasticity

Torres, Viviana I VI; Vallejo, Daniela D; Inestrosa, Nibaldo C NC

Publication Date: 2017

Variant appearance in text: rs3773364

PubMed Link: 28331639

Variant Present in the following documents:

• Main text
• NP2017-8081758.pdf

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Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population.

Brain And Behavior

Baghel, Ruchi R; Grover, Sandeep S; Kaur, Harpreet H; Jajodia, Ajay A; Parween, Shama S; Sinha, Juhi J; Srivastava, Ankit A; Srivastava, Achal Kumar AK; Bala, Kiran K; Chandna, Puneet P; Kushwaha, Suman S; Agarwal, Rachna R; Kukreti, Ritushree R

Publication Date: 2016-07

Variant appearance in text: rs3773364

PubMed Link: 27458546

Variant Present in the following documents:

• Main text
• BRB3-6-e00490.pdf

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Asynchronous GABA Release Is a Key Determinant of Tonic Inhibition and Controls Neuronal Excitability: A Study in the Synapsin II-/- Mouse.

Cerebral Cortex (New York, N.Y. : 1991)

Medrihan, Lucian L; Ferrea, Enrico E; Greco, Barbara B; Baldelli, Pietro P; Benfenati, Fabio F

Publication Date: 2015-10

Variant appearance in text: rs3773364

PubMed Link: 24962993

Variant Present in the following documents:

• bhu141.pdf

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Dentate gyrus network dysfunctions precede the symptomatic phase in a genetic mouse model of seizures.

Frontiers In Cellular Neuroscience

Toader, Oana O; Forte, Nicola N; Orlando, Marta M; Ferrea, Enrico E; Raimondi, Andrea A; Baldelli, Pietro P; Benfenati, Fabio F; Medrihan, Lucian L

Publication Date: 2013

Variant appearance in text: rs3773364

PubMed Link: 24009558

Variant Present in the following documents:

• Main text

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SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.

Human Molecular Genetics

Corradi, Anna A; Fadda, Manuela M; Piton, Amélie A; Patry, Lysanne L; Marte, Antonella A; Rossi, Pia P; Cadieux-Dion, Maxime M; Gauthier, Julie J; Lapointe, Line L; Mottron, Laurent L; Valtorta, Flavia F; Rouleau, Guy A GA; Fassio, Anna A; Benfenati, Fabio F; Cossette, Patrick P

Publication Date: 2014-01-01

Variant appearance in text: rs3773364

PubMed Link: 23956174

Variant Present in the following documents:

• Main text

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Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.

Plos One

Giannandrea, Maila M; Guarnieri, Fabrizia C FC; Gehring, Niels H NH; Monzani, Elena E; Benfenati, Fabio F; Kulozik, Andreas E AE; Valtorta, Flavia F

Publication Date: 2013

Variant appearance in text: rs3773364

PubMed Link: 23818987

Variant Present in the following documents:

• pone.0067724.pdf

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Autism-related behavioral abnormalities in synapsin knockout mice.

Behavioural Brain Research

Greco, Barbara B; Managò, Francesca F; Tucci, Valter V; Kao, Hung-Teh HT; Valtorta, Flavia F; Benfenati, Fabio F

Publication Date: 2013-08-15

Variant appearance in text: rs3773364

PubMed Link: 23280234

Variant Present in the following documents:

• Main text

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