Ashleigh E Schaffer (Ashleigh Schaffer)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 15

Top Venues

Nature communications

Lab animal

Research square

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marynelle Icmat, François Lecoquierre, Amanda G Lobato, Manuela Morleo, Michela Ori, Ashleigh E Schaffer, Antonio Vitobello, Sara Wells, Binnaz Yalcin, Rong Grace Zhai, Marc Sturm, Birte Zurek, Holm Graessner, Eva Bermejo-Sánchez, Teresinha Evangelista, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schüle, Alain Verloes, Han Brunner, Philippe M Campeau, Paul Lasko, Olaf Riess
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal 53 (7) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marynelle Icmat, François Lecoquierre, Amanda G Lobato, Manuela Morleo, Michela Ori, Ashleigh E Schaffer, Antonio Vitobello, Sara Wells, Binnaz Yalcin, Rong Grace Zhai, Marc Sturm, Birte Zurek, Holm Graessner, Eva Bermejo-Sánchez, Teresinha Evangelista, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schüle, Alain Verloes, Han Brunner, Philippe M Campeau, Paul Lasko, Olaf Riess
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal 53 (7) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marynelle Icmat, François Lecoquierre, Amanda G Lobato, Manuela Morleo, Michela Ori, Ashleigh E Schaffer, Antonio Vitobello, Sara Wells, Binnaz Yalcin, Rong Grace Zhai, Marc Sturm, Birte Zurek, Holm Graessner, Eva Bermejo-Sánchez, Teresinha Evangelista, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schüle, Alain Verloes, Han Brunner, Philippe M Campeau, Paul Lasko, Olaf Riess
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal (2024)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marynelle Icmat, François Lecoquierre, Amanda G Lobato, Manuela Morleo, Michela Ori, Ashleigh E Schaffer, Antonio Vitobello, Sara Wells, Binnaz Yalcin, Rong Grace Zhai, Marc Sturm, Birte Zurek, Holm Graessner, Eva Bermejo-Sánchez, Teresinha Evangelista, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schüle, Alain Verloes, Han Brunner, Philippe M Campeau, Paul Lasko, Olaf Riess
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal 53 (7) (2024)
Elizabeth Werren, Geneva LaForce, Anshika Srivast, Delia Perillo, Katherine Johnson, Brandon Berger, Samantha Regan, Christian Pfennig, Safa Baris, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raul Jimenez Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, Eloise Prijoles, Raymond Louie, Robert Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome. Research square (2023)
Geneva R LaForce, Polyxeni Philippidou, Ashleigh E Schaffer
mRNA isoform balance in neuronal development and disease. Wiley interdisciplinary reviews. RNA (2022)
Chien-Wen Chen, Bo-Jhih Guan, Mohammed R Alzahrani, Zhaofeng Gao, Long Gao, Syrena Bracey, Jing Wu, Cheikh A Mbow, Raul Jobava, Leena Haataja, Ajay H Zalavadia, Ashleigh E Schaffer, Hugo Lee, Thomas LaFramboise, Ilya Bederman, Peter Arvan, Clayton E Mathews, Ivan C Gerling, Klaus H Kaestner, Boaz Tirosh, Feyza Engin, Maria Hatzoglou
Adaptation to chronic ER stress enforces pancreatic β-cell plasticity. Nature communications 13 (1) (2022)
Arisha Rasheed, Evren Gumus, Maha Zaki, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz, Ashleigh E Schaffer
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. Journal of medical genetics 58 (4) (2020)
Lucie Y Ahn, Giuliana C Coatti, Jingyi Liu, Evren Gumus, Ashleigh E Schaffer, Helen Cristina Miranda
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model. Journal of neuroscience research 99 (1) (2020)
Ashleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, Nouriya Al-Sanaa, Hind Y Al-Abdulwahed, Hande Kaymakçalan, Cahide Yılmaz, Maha S Zaki, Rasim O Rosti, Brett Copeland, Seung Tae Baek, Damir Musaev, Eric C Scott, Tawfeg Ben-Omran, Ariana Kariminejad, Hulya Kayserili, Faezeh Mojahedi, Majdi Kara, Na Cai, Jennifer L Silhavy, Seham Elsharif, Elif Fenercioglu, Bruce A Barshop, Bulent Kara, Rengang Wang, Valentina Stanley, Kiely N James, Rahul Nachnani, Aneesha Kalur, Hisham Megahed, Faruk Incecik, Sumita Danda, Yasemin Alanay, Eissa Faqeih, Gia Melikishvili, Lobna Mansour, Ian Miller, Biayna Sukhudyan, Jamel Chelly, William B Dobyns, Kaya Bilguvar, Rami Abou Jamra, Murat Gunel, Joseph G Gleeson
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature genetics 50 (8) (2018)

Ashleigh E Schaffer.css-eqlu8i{font-size:small;padding-left:4px;} (Ashleigh Schaffer)

Publication Activity (10 Years)

Top Topics

Top Venues

Ashleigh E Schaffer (Ashleigh Schaffer)