Publications:

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Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.

International Journal Of Molecular Sciences

Perego, Sara S; Alari, Valentina V; Pietra, Gianluca G; Lamperti, Andrea A; Vimercati, Alessandro A; Camporeale, Nicole N; Garzo, Maria M; Cogliati, Francesca F; Milani, Donatella D; Vignoli, Aglaia A; Peron, Angela A; Larizza, Lidia L; Pizzorusso, Tommaso T; Russo, Silvia S

Publication Date: 2022-11-21

Variant appearance in text: CREBBP: 3474G>A; Trp1158*

PubMed Link: 36430969

Variant Present in the following documents:

• ijms-23-14491.pdf

View BVdb publication page

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Hgg Advances

Levy, Michael A MA; McConkey, Haley H; Kerkhof, Jennifer J; Barat-Houari, Mouna M; Bargiacchi, Sara S; Biamino, Elisa E; Bralo, María Palomares MP; Cappuccio, Gerarda G; Ciolfi, Andrea A; Clarke, Angus A; DuPont, Barbara R BR; Elting, Mariet W MW; Faivre, Laurence L; Fee, Timothy T; Fletcher, Robin S RS; Cherik, Florian F; Foroutan, Aidin A; Friez, Michael J MJ; Gervasini, Cristina C; Haghshenas, Sadegheh S; Hilton, Benjamin A BA; Jenkins, Zandra Z; Kaur, Simranpreet S; Lewis, Suzanne S; Louie, Raymond J RJ; Maitz, Silvia S; Milani, Donatella D; Morgan, Angela T AT; Oegema, Renske R; Østergaard, Elsebet E; Pallares, Nathalie Ruiz NR; Piccione, Maria M; Pizzi, Simone S; Plomp, Astrid S AS; Poulton, Cathryn C; Reilly, Jack J; Relator, Raissa R; Rius, Rocio R; Robertson, Stephen S; Rooney, Kathleen K; Rousseau, Justine J; Santen, Gijs W E GWE; Santos-Simarro, Fernando F; Schijns, Josephine J; Squeo, Gabriella Maria GM; St John, Miya M; Thauvin-Robinet, Christel C; Traficante, Giovanna G; van der Sluijs, Pleuntje J PJ; Vergano, Samantha A SA; Vos, Niels N; Walden, Kellie K KK; Azmanov, Dimitar D; Balci, Tugce T; Banka, Siddharth S; Gecz, Jozef J; Henneman, Peter P; Lee, Jennifer A JA; Mannens, Marcel M A M MMAM; Roscioli, Tony T; Siu, Victoria V; Amor, David J DJ; Baynam, Gareth G; Bend, Eric G EG; Boycott, Kym K; Brunetti-Pierri, Nicola N; Campeau, Philippe M PM; Christodoulou, John J; Dyment, David D; Esber, Natacha N; Fahrner, Jill A JA; Fleming, Mark D MD; Genevieve, David D; Kerrnohan, Kristin D KD; McNeill, Alisdair A; Menke, Leonie A LA; Merla, Giuseppe G; Prontera, Paolo P; Rockman-Greenberg, Cheryl C; Schwartz, Charles C; Skinner, Steven A SA; Stevenson, Roger E RE; Vitobello, Antonio A; Tartaglia, Marco M; Alders, Marielle M; Tedder, Matthew L ML; Sadikovic, Bekim B

Publication Date: 2022-01-13

Variant appearance in text: CREBBP: 3474G>A; Trp1158*

PubMed Link: 35047860

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons.

Neural Regeneration Research

Larizza, Lidia L; Calzari, Luciano L; Alari, Valentina V; Russo, Silvia S

Publication Date: 2022-01

Variant appearance in text: CREBBP: 3474G>A

PubMed Link: 34100419

Variant Present in the following documents:

• NRR-17-5.pdf

View BVdb publication page

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Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.

International Journal Of Molecular Sciences

Alari, Valentina V; Scalmani, Paolo P; Ajmone, Paola Francesca PF; Perego, Sara S; Avignone, Sabrina S; Catusi, Ilaria I; Lonati, Paola Adele PA; Borghi, Maria Orietta MO; Finelli, Palma P; Terragni, Benedetta B; Mantegazza, Massimo M; Russo, Silvia S; Larizza, Lidia L

Publication Date: 2021-05-28

Variant appearance in text: CREBBP: 3474G>A

PubMed Link: 34071322

Variant Present in the following documents:

• Main text
• ijms-22-05777.pdf

View BVdb publication page

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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.

Molecular Neurobiology

Calzari, Luciano L; Barcella, Matteo M; Alari, Valentina V; Braga, Daniele D; Muñoz-Viana, Rafael R; Barlassina, Cristina C; Finelli, Palma P; Gervasini, Cristina C; Barco, Angel A; Russo, Silvia S; Larizza, Lidia L

Publication Date: 2020-09

Variant appearance in text: CREBBP: 3474G>A

PubMed Link: 32562237

Variant Present in the following documents:

• 12035_2020_Article_1983.pdf
• 12035_2020_1983_MOESM2_ESM.pdf

View BVdb publication page

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Impact of genomic profiling on the treatment and outcomes of patients with advanced gastrointestinal malignancies.

Cancer Medicine

Dhir, Mashaal M; Choudry, Haroon A HA; Holtzman, Matthew P MP; Pingpank, James F JF; Ahrendt, Steven A SA; Zureikat, Amer H AH; Hogg, Melissa E ME; Bartlett, David L DL; Zeh, Herbert J HJ; Singhi, Aatur D AD; Bahary, Nathan N

Publication Date: 2017-01

Variant appearance in text: CREBBP: W1158*

PubMed Link: 28028924

Variant Present in the following documents:

• CAM4-6-195-s001.xlsx, sheet 1

View BVdb publication page

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