Search

Your search keyword '"Dolmetsch, Ricardo"' showing total 139 results
Start Over Author "Dolmetsch, Ricardo" Publication Year Range Last 10 years
139 results on '"Dolmetsch, Ricardo"'

1. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report

Author

Cable, Jennifer, Purcell, Ryan H, Robinson, Elise, Vorstman, Jacob AS, Chung, Wendy K, Constantino, John N, Sanders, Stephan J, Sahin, Mustafa, Dolmetsch, Ricardo E, Shah, Bina Maniar, Thurm, Audrey, Martin, Christa L, Bearden, Carrie E, and Mulle, Jennifer G

Subjects
Pharmacology and Pharmaceutical Sciences, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Autism, Pediatric, Mental Health, Neurosciences, Schizophrenia, Behavioral and Social Science, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Mental health, Congresses as Topic, Genetic Variation, Humans, Mental Disorders, Neurodevelopmental Disorders, Penetrance, Research Report, autism, autism heterogeneity, autism spectrum disorder, copy number variant, intellectual disability, neurodevelopmental disorders, neuropsychiatric disorders, polygenic risk score, rare variants, schizophrenia, 3q29 deletion, TSC, 16p11, deletion, 22q11, 16p11.2 deletion, 22q11.2 deletion, General Science & Technology
Abstract

Neurodevelopmental neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia, have strong genetic risk components, but the underlying mechanisms have proven difficult to decipher. Rare, high-risk variants may offer an opportunity to delineate the biological mechanisms responsible more clearly for more common idiopathic diseases. Indeed, different rare variants can cause the same behavioral phenotype, demonstrating genetic heterogeneity, while the same rare variant can cause different behavioral phenotypes, demonstrating variable expressivity. These observations suggest convergent underlying biological and neurological mechanisms; identification of these mechanisms may ultimately reveal new therapeutic targets. At the 2021 Keystone eSymposium "Neuropsychiatric and Neurodevelopmental Disorders: Harnessing Rare Variants" a panel of experts in the field described significant progress in genomic discovery and human phenotyping and raised several consistent issues, including the need for detailed natural history studies of rare disorders, the challenges in cohort recruitment, and the importance of viewing phenotypes as quantitative traits that are impacted by rare variants.

Published
2021

4. Neuronal defects in a human cellular model of 22q11.2 deletion syndrome

Author

Khan, Themasap A, Revah, Omer, Gordon, Aaron, Yoon, Se-Jin, Krawisz, Anna K, Goold, Carleton, Sun, Yishan, Kim, Chul Hoon, Tian, Yuan, Li, Min-Yin, Schaepe, Julia M, Ikeda, Kazuya, Amin, Neal D, Sakai, Noriaki, Yazawa, Masayuki, Kushan, Leila, Nishino, Seiji, Porteus, Matthew H, Rapoport, Judith L, Bernstein, Jonathan A, O’Hara, Ruth, Bearden, Carrie E, Hallmayer, Joachim F, Huguenard, John R, Geschwind, Daniel H, Dolmetsch, Ricardo E, and Paşca, Sergiu P

Subjects
Stem Cell Research - Induced Pluripotent Stem Cell - Human, Mental Health, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research, Pediatric, Genetics, Stem Cell Research - Nonembryonic - Human, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Congenital, Neurological, Adult, Calcium Signaling, Cell Differentiation, Cerebral Cortex, DiGeorge Syndrome, Female, Humans, Induced Pluripotent Stem Cells, Male, Neurons, Organoids, Young Adult, Medical and Health Sciences, Immunology
Abstract

22q11.2 deletion syndrome (22q11DS) is a highly penetrant and common genetic cause of neuropsychiatric disease. Here we generated induced pluripotent stem cells from 15 individuals with 22q11DS and 15 control individuals and differentiated them into three-dimensional (3D) cerebral cortical organoids. Transcriptional profiling across 100 days showed high reliability of differentiation and revealed changes in neuronal excitability-related genes. Using electrophysiology and live imaging, we identified defects in spontaneous neuronal activity and calcium signaling in both organoid- and 2D-derived cortical neurons. The calcium deficit was related to resting membrane potential changes that led to abnormal inactivation of voltage-gated calcium channels. Heterozygous loss of DGCR8 recapitulated the excitability and calcium phenotypes and its overexpression rescued these defects. Moreover, the 22q11DS calcium abnormality could also be restored by application of antipsychotics. Taken together, our study illustrates how stem cell derived models can be used to uncover and rescue cellular phenotypes associated with genetic forms of neuropsychiatric disease.

Published
2020

5. A framework for the investigation of rare genetic disorders in neuropsychiatry

Author

Sanders, Stephan J, Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L, Modi, Meera E, Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H, Glahn, David C, Goldstein, David B, Ledbetter, David H, Mulle, Jennifer G, Pasca, Sergiu P, Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E, and Bearden, Carrie E

Subjects
Neurosciences, Mental Health, Genetics, Human Genome, Genomics, Humans, Mental Disorders, Neuropsychiatry, Rare Diseases, Medical and Health Sciences, Immunology
Abstract

De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to elucidate the mechanisms underlying neuropsychiatric disorders by investigating the pathophysiology of high-penetrance genetic risk factors. Here we seek out the best path forward for achieving these goals. We think future research will require consistent approaches across multiple RGDs and developmental stages, involving both the characterization of shared neuropsychiatric dimensions in humans and the identification of neurobiological commonalities in model systems. A coordinated and concerted effort across patients, families, researchers, clinicians and institutions, including rapid and broad sharing of data, is now needed to translate these discoveries into urgently needed therapies.

Published
2019

7. The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

Author

Nehme, Ralda, Pietiläinen, Olli, Artomov, Mykyta, Tegtmeyer, Matthew, Valakh, Vera, Lehtonen, Leevi, Bell, Christina, Singh, Tarjinder, Trehan, Aditi, Sherwood, John, Manning, Danielle, Peirent, Emily, Malik, Rhea, Guss, Ellen J., Hawes, Derek, Beccard, Amanda, Bara, Anne M., Hazelbaker, Dane Z., Zuccaro, Emanuela, Genovese, Giulio, Loboda, Alexander A., Neumann, Anna, Lilliehook, Christina, Kuismin, Outi, Hamalainen, Eija, Kurki, Mitja, Hultman, Christina M., Kähler, Anna K., Paulo, Joao A., Ganna, Andrea, Madison, Jon, Cohen, Bruce, McPhie, Donna, Adolfsson, Rolf, Perlis, Roy, Dolmetsch, Ricardo, Farhi, Samouil, McCarroll, Steven, Hyman, Steven, Neale, Ben, Barrett, Lindy E., Harper, Wade, Palotie, Aarno, Daly, Mark, and Eggan, Kevin

Published
2022
Full Text
View/download PDF

8. An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion

Author

Keller, Caroline Gubser, Shin, Youngah, Monteys, Alex Mas, Renaud, Nicole, Beibel, Martin, Teider, Natalia, Peters, Thomas, Faller, Thomas, St-Cyr, Sophie, Knehr, Judith, Roma, Guglielmo, Reyes, Alejandro, Hild, Marc, Lukashev, Dmitriy, Theil, Diethilde, Dales, Natalie, Cha, Jang-Ho, Borowsky, Beth, Dolmetsch, Ricardo, Davidson, Beverly L., and Sivasankaran, Rajeev

Published
2022
Full Text
View/download PDF

10. Developmental convergence and divergence in human stem cell models of autism spectrum disorder

Author

Gordon, Aaron, primary, Yoon, Se-Jin, additional, Bicks, Lucy K., additional, Martin, Jacqueline M, additional, Pintacuda, Greta, additional, Arteaga, Stephanie A, additional, Wamsley, Brie A, additional, Guo, Qiuyu, additional, Elahi, Lubayna, additional, Dolmetsch, Ricardo E, additional, Bernstein, Jonathan A, additional, O'Hara, Ruth, additional, Hallmayer, Joachim F, additional, Lage, Kasper, additional, Pasca, Sergiu P, additional, and Geschwind, Daniel, additional

Published
2024
Full Text
View/download PDF

11. Translating genome-wide association findings into new therapeutics for psychiatry

Author

Breen, Gerome, Li, Qingqin, Roth, Bryan L, O'Donnell, Patricio, Didriksen, Michael, Dolmetsch, Ricardo, O'Reilly, Paul F, Gaspar, Héléna A, Manji, Husseini, Huebel, Christopher, Kelsoe, John R, Malhotra, Dheeraj, Bertolino, Alessandro, Posthuma, Danielle, Sklar, Pamela, Kapur, Shitij, Sullivan, Patrick F, Collier, David A, and Edenberg, Howard J

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Human Genome, Genetics, Biotechnology, Mental Health, Brain Disorders, Mental health, Good Health and Well Being, Animals, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mental Disorders, Polymorphism, Single Nucleotide, Psychiatry, Risk Assessment, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Genome-wide association studies (GWAS) in psychiatry, once they reach sufficient sample size and power, have been enormously successful. The Psychiatric Genomics Consortium (PGC) aims for mega-analyses with sample sizes that will grow to >1 million individuals in the next 5 years. This should lead to hundreds of new findings for common genetic variants across nine psychiatric disorders studied by the PGC. The new targets discovered by GWAS have the potential to restart largely stalled psychiatric drug development pipelines, and the translation of GWAS findings into the clinic is a key aim of the recently funded phase 3 of the PGC. This is not without considerable technical challenges. These approaches complement the other main aim of GWAS studies, risk prediction approaches for improving detection, differential diagnosis, and clinical trial design. This paper outlines the motivations, technical and analytical issues, and the plans for translating PGC phase 3 findings into new therapeutics.

Published
2016

12. 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions

Author

Yang, Mu, Mahrt, Elena J, Lewis, Freeman, Foley, Gillian, Portmann, Thomas, Dolmetsch, Ricardo E, Portfors, Christine V, and Crawley, Jacqueline N

Subjects
Brain Disorders, Basic Behavioral and Social Science, Autism, Behavioral and Social Science, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Mental Health, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Animals, Autistic Disorder, Behavior, Animal, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, Disease Models, Animal, Intellectual Disability, Male, Mice, Social Behavior, Vocalization, Animal, mouse model of autism, 16p11.2 deletion, ultrasonic vocalization, social Interaction, autism, Clinical Sciences, Psychology, Developmental & Child Psychology
Abstract

Recurrent deletions and duplications at chromosomal region 16p11.2 are variably associated with speech delay, autism spectrum disorder, developmental delay, schizophrenia, and cognitive impairments. Social communication deficits are a primary diagnostic symptom of autism. Here we investigated ultrasonic vocalizations (USVs) in young adult male 16p11.2 deletion mice during a novel three-phase male-female social interaction test that detects vocalizations emitted by a male in the presence of an estrous female, how the male changes its calling when the female is suddenly absent, and the extent to which calls resume when the female returns. Strikingly fewer vocalizations were detected in two independent cohorts of 16p11.2 heterozygous deletion males (+/-) during the first exposure to an unfamiliar estrous female, as compared to wildtype littermates (+/+). When the female was removed, +/+ emitted calls, but at a much lower level, whereas +/- males called minimally. Sensory and motor abnormalities were detected in +/-, including higher nociceptive thresholds, a complete absence of acoustic startle responses, and hearing loss in all +/- as confirmed by lack of auditory brainstem responses to frequencies between 8 and 100 kHz. Stereotyped circling and backflipping appeared in a small percentage of individuals, as previously reported. However, these sensory and motor phenotypes could not directly explain the low vocalizations in 16p11.2 deletion mice, since (a) +/- males displayed normal abilities to emit vocalizations when the female was subsequently reintroduced, and (b) +/- vocalized less than +/+ to social odor cues delivered on an inanimate cotton swab. Our findings support the concept that mouse USVs in social settings represent a response to social cues, and that 16p11.2 deletion mice are deficient in their initial USVs responses to novel social cues.

Published
2015

13. Genome-wide CRISPR screen identifies protein pathways modulating tau protein levels in neurons

Author

Sanchez, Carlos G., Acker, Christopher M., Gray, Audrey, Varadarajan, Malini, Song, Cheng, Cochran, Nadire R., Paula, Steven, Lindeman, Alicia, An, Shaojian, McAllister, Gregory, Alford, John, Reece-Hoyes, John, Russ, Carsten, Craig, Lucas, Capre, Ketthsy, Doherty, Christian, Hoffman, Gregory R., Luchansky, Sarah J., Polydoro, Manuela, Dolmetsch, Ricardo, and Elwood, Fiona

Published
2021
Full Text
View/download PDF

14. Genome-Scale CRISPR Screens Identify Human Pluripotency-Specific Genes

Author

Ihry, Robert J., Salick, Max R., Ho, Daniel J., Sondey, Marie, Kommineni, Sravya, Paula, Steven, Raymond, Joe, Henry, Beata, Frias, Elizabeth, Wang, Qiong, Worringer, Kathleen A., Ye, Chaoyang, Russ, Carsten, Reece-Hoyes, John S., Altshuler, Robert C., Randhawa, Ranjit, Yang, Zinger, McAllister, Gregory, Hoffman, Gregory R., Dolmetsch, Ricardo, and Kaykas, Ajamete

Published
2019
Full Text
View/download PDF

15. Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene

Author

Kostic, Milos, primary, Raymond, Joseph J., additional, Freyre, Christophe A. C., additional, Henry, Beata, additional, Tumkaya, Tayfun, additional, Khlghatyan, Jivan, additional, Dvornik, Jill, additional, Li, Jingyao, additional, Hsiao, Jack S., additional, Cheon, Seon Hye, additional, Chung, Jonathan, additional, Sun, Yishan, additional, Dolmetsch, Ricardo E., additional, Worringer, Kathleen A., additional, and Ihry, Robert J., additional

Published
2023
Full Text
View/download PDF

16. p53 inhibits CRISPR–Cas9 engineering in human pluripotent stem cells

Author

Ihry, Robert J., Worringer, Kathleen A., Salick, Max R., Frias, Elizabeth, Ho, Daniel, Theriault, Kraig, Kommineni, Sravya, Chen, Julie, Sondey, Marie, Ye, Chaoyang, Randhawa, Ranjit, Kulkarni, Tripti, Yang, Zinger, McAllister, Gregory, Russ, Carsten, Reece-Hoyes, John, Forrester, William, Hoffman, Gregory R., Dolmetsch, Ricardo, and Kaykas, Ajamete

Published
2018
Full Text
View/download PDF

17. CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

Author

Bidinosti, Michael, Botta, Paolo, Krüttner, Sebastian, Proenca, Catia C., Stoehr, Natacha, Bernhard, Mario, Fruh, Isabelle, Mueller, Matthias, Bonenfant, Debora, Voshol, Hans, Carbone, Walter, Neal, Sarah J., McTighe, Stephanie M., Roma, Guglielmo, Dolmetsch, Ricardo E., Porter, Jeffrey A., Caroni, Pico, Bouwmeester, Tewis, Lüthi, Andreas, and Galimberti, Ivan

Published
2016

18. Stable and durable factor IX levels in patients with hemophilia B over 3 years after etranacogene dezaparvovec gene therapy

Author

Leebeek, Frank, von Drygalski, Annette, Gomez, Esteban, Giermasz, Adam, Castaman, Giancarlo, Key, Nigel S., Lattimore, Susan U., Miesbach, Wolfgang, Recht, Michael P., Gut, Robert, Dolmetsch, Ricardo E., Monahan, Paul E., Le Quellec, Sandra, Pipe, Steven W., Leebeek, Frank, von Drygalski, Annette, Gomez, Esteban, Giermasz, Adam, Castaman, Giancarlo, Key, Nigel S., Lattimore, Susan U., Miesbach, Wolfgang, Recht, Michael P., Gut, Robert, Dolmetsch, Ricardo E., Monahan, Paul E., Le Quellec, Sandra, and Pipe, Steven W.

Abstract

Etranacogene dezaparvovec (AMT-061) is a recombinant adeno-associated virus serotype 5 (AAV5) vector containing a codon-optimized Padua variant human factor IX (FIX) transgene with a liver-specific promoter. Here, we report 3-year outcomes from a phase 2b, open-label, single-dose, single-arm, multicenter trial conducted among adults with severe or moderately severe hemophilia B (FIX ≤2%). All participants (n = 3) received a single intravenous dose (2 × 10 13 gene copies per kg) and will be followed up for 5 years. The primary end point of FIX activity ≥5% at 6 weeks was met. Secondary end points included bleed frequency, FIX concentrate use, joint health, and adverse events (AEs). All participants required routine FIX prophylaxis and had neutralizing antibodies to AAV5 before etranacogene dezaparvovec treatment. After administration, FIX activity rose to a mean of 40.8% in year 1 and was sustained in year 3 at 36.9%. All participants discontinued FIX prophylaxis. Bleeding was completely eliminated in 2 out of 3 participants. One participant required on-demand FIX replacement therapy per protocol because of elective surgical procedures, for 2 reported bleeding episodes, and twice for a single self-administered infusion because of an unreported reason. One participant experienced 2 mild, self-limiting AEs shortly after dosing. During the 3-year study period, there were no clinically significant elevations in liver enzymes, no requirement for steroids, no FIX inhibitor development, and no late-emergent safety events in any participant. Etranacogene dezaparvovec was safe and effective in adults with hemophilia B over 3 years after administration. This trial was registered at www.clinicaltrials.gov as #NCT03489291.

Published
2023

19. Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B

Author

Poli Van Creveldkliniek Medisch, Pipe, Steven W, Leebeek, Frank W G, Recht, Michael, Key, Nigel S, Castaman, Giancarlo, Miesbach, Wolfgang, Lattimore, Susan, Peerlinck, Kathelijne, Van der Valk, Paul, Coppens, Michiel, Kampmann, Peter, Meijer, Karina, O'Connell, Niamh, Pasi, K John, Hart, Daniel P, Kazmi, Rashid, Astermark, Jan, Hermans, Cedric R J R, Klamroth, Robert, Lemons, Richard, Visweshwar, Nathan, von Drygalski, Annette, Young, Guy, Crary, Shelley E, Escobar, Miguel, Gomez, Esteban, Kruse-Jarres, Rebecca, Quon, Doris V, Symington, Emily, Wang, Michael, Wheeler, Allison P, Gut, Robert, Liu, Ying P, Dolmetsch, Ricardo E, Cooper, David L, Li, Yanyan, Goldstein, Brahm, Monahan, Paul E, Poli Van Creveldkliniek Medisch, Pipe, Steven W, Leebeek, Frank W G, Recht, Michael, Key, Nigel S, Castaman, Giancarlo, Miesbach, Wolfgang, Lattimore, Susan, Peerlinck, Kathelijne, Van der Valk, Paul, Coppens, Michiel, Kampmann, Peter, Meijer, Karina, O'Connell, Niamh, Pasi, K John, Hart, Daniel P, Kazmi, Rashid, Astermark, Jan, Hermans, Cedric R J R, Klamroth, Robert, Lemons, Richard, Visweshwar, Nathan, von Drygalski, Annette, Young, Guy, Crary, Shelley E, Escobar, Miguel, Gomez, Esteban, Kruse-Jarres, Rebecca, Quon, Doris V, Symington, Emily, Wang, Michael, Wheeler, Allison P, Gut, Robert, Liu, Ying P, Dolmetsch, Ricardo E, Cooper, David L, Li, Yanyan, Goldstein, Brahm, and Monahan, Paul E

Published
2023

20. Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B

Author

Pipe, Steven W., primary, Leebeek, Frank W.G., additional, Recht, Michael, additional, Key, Nigel S., additional, Castaman, Giancarlo, additional, Miesbach, Wolfgang, additional, Lattimore, Susan, additional, Peerlinck, Kathelijne, additional, Van der Valk, Paul, additional, Coppens, Michiel, additional, Kampmann, Peter, additional, Meijer, Karina, additional, O’Connell, Niamh, additional, Pasi, K. John, additional, Hart, Daniel P., additional, Kazmi, Rashid, additional, Astermark, Jan, additional, Hermans, Cedric R.J.R., additional, Klamroth, Robert, additional, Lemons, Richard, additional, Visweshwar, Nathan, additional, von Drygalski, Annette, additional, Young, Guy, additional, Crary, Shelley E., additional, Escobar, Miguel, additional, Gomez, Esteban, additional, Kruse-Jarres, Rebecca, additional, Quon, Doris V., additional, Symington, Emily, additional, Wang, Michael, additional, Wheeler, Allison P., additional, Gut, Robert, additional, Liu, Ying P., additional, Dolmetsch, Ricardo E., additional, Cooper, David L., additional, Li, Yanyan, additional, Goldstein, Brahm, additional, and Monahan, Paul E., additional

Published
2023
Full Text
View/download PDF

24. Stable and durable factor IX levels in hemophilia B patients over 3 years post etranacogene dezaparvovec gene therapy

Author

von Drygalski, Annette, primary, Gomez, Esteban, additional, Giermasz, Adam, additional, Castaman, Giancarlo, additional, Key, Nigel S, additional, Lattimore, Susan S, additional, Leebeek, Frank W.G., additional, Miesbach, Wolfgang A, additional, Recht, Michael, additional, Gut, Robert Z, additional, Dolmetsch, Ricardo, additional, Monahan, Paul E, additional, Le Quellec, Sandra, additional, and Pipe, Steven W, additional

Published
2022
Full Text
View/download PDF

25. Adults with Severe or Moderately Severe Hemophilia B Receiving Etranacogene Dezaparvovec in the HOPE-B Phase 3 Clinical Trial Continue to Experience a Stable Increase in Mean Factor IX Activity Levels and Durable Hemostatic Protection after 24 Months’ Follow-up

Author

Pipe, Steven W., primary, Leebeek, Frank W.G., additional, Recht, Michael, additional, Key, Nigel S., additional, Lattimore, Susan, additional, Castaman, Giancarlo, additional, Coppens, Michiel, additional, Cooper, David, additional, Gut, Robert, additional, Slawka, Sergio, additional, Verweij, Stephanie, additional, Dolmetsch, Ricardo, additional, Li, Yanyan, additional, Monahan, Paul E., additional, and Miesbach, Wolfgang A., additional

Published
2022
Full Text
View/download PDF

26. Durability of Bleeding Protection and Factor IX Activity Levels Are Demonstrated in Individuals with and without Adeno-Associated Virus Serotype 5 Neutralizing Antibodies (Titers <1:700) with Comparable Safety in the Phase 3 HOPE-B Clinical Trial of Etranacogene Dezaparvovec Gene Therapy for Hemophilia B

Author

Pipe, Steven W., primary, Leebeek, Frank W.G., additional, Recht, Michael, additional, Key, Nigel S., additional, Lattimore, Susan, additional, Castaman, Giancarlo, additional, Cooper, David, additional, Verweij, Stephanie, additional, Dolmetsch, Ricardo, additional, Tarrant, Jacqueline, additional, Li, Yanyan, additional, Monahan, Paul E., additional, and Miesbach, Wolfgang A., additional

Published
2022
Full Text
View/download PDF

28. H49 The Huntington’s disease quality of life battery for carers (HDQOL-CS): evidence from the Huntington’s disease burden of illness (HDBOI) study for Europe

Author

Rodriguez-Santana, Idaira, primary, Willock, Rosa, additional, Frank, Samuel, additional, Mestre, Tiago, additional, Hamilton, Jamie L, additional, Stanley, Cath, additional, Vetter, Louise, additional, Hernandez-Jimenez, Elena, additional, Dolmetsch, Ricardo, additional, Ratsch, Sarah, additional, and Ali, Talaha M, additional

Published
2022
Full Text
View/download PDF

29. F64 Suicidal ideation and sleep disturbances by disease stage: evidence from the Huntington’s disease burden of illness (HDBOI) study for europe (EU5)

Author

Rodriguez-Santana, Idaira, primary, Willock, Rosa, additional, Frank, Samuel, additional, Mestre, Tiago, additional, Arnesen, Astri, additional, Hamilton, Jamie L, additional, Hubberstey, Hayley, additional, Winkelmann, Michaela, additional, Hernandez-Jimenez, Elena, additional, Dolmetsch, Ricardo, additional, Ratsch, Sarah, additional, and Ali, Talaha M, additional

Published
2022
Full Text
View/download PDF

30. A framework for the investigation of rare genetic disorders in neuropsychiatry

Author

McGovern Institute for Brain Research at MIT, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Sanders, Stephan J., Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L., Modi, Meera E., Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H., Glahn, David C., Goldstein, David B., Ledbetter, David H., Mulle, Jennifer G., Pasca, Sergiu P., Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E., Bearden, Carrie E., McGovern Institute for Brain Research at MIT, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Sanders, Stephan J., Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L., Modi, Meera E., Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H., Glahn, David C., Goldstein, David B., Ledbetter, David H., Mulle, Jennifer G., Pasca, Sergiu P., Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E., and Bearden, Carrie E.

Abstract

De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to elucidate the mechanisms underlying neuropsychiatric disorders by investigating the pathophysiology of high-penetrance genetic risk factors. Here we seek out the best path forward for achieving these goals. We think future research will require consistent approaches across multiple RGDs and developmental stages, involving both the characterization of shared neuropsychiatric dimensions in humans and the identification of neurobiological commonalities in model systems. A coordinated and concerted effort across patients, families, researchers, clinicians and institutions, including rapid and broad sharing of data, is now needed to translate these discoveries into urgently needed therapies.

Published
2022

31. NEURODEVELOPMENT: CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

Author

Bidinosti, Michael, Botta, Paolo, Kriittner, Sebastian, Proenca, Catia C., Stoehr, Natacha, Bernhard, Mario, Fruh, Isabelle, Mueller, Matthias, Bonenfant, Debora, Voshol, Hans, Carbone, Walter, Neal, Sarah J., McTighe, Stephanie M., Roma, Guglielmo, Dolmetsch, Ricardo E., Porter, Jeffrey A., Caroni, Pico, Bouwmeester, Tewis, Lüthi, Andreas, and Galimberti, Ivan

Published
2016
Full Text
View/download PDF

32. Patient brain organoids identify a link between the 16p11.2 copy number variant and the RBFOX1 gene

Author

Kostic, Milos, primary, Raymond, Joseph J., additional, Henry, Beata, additional, Tumkaya, Tayfun, additional, Khlghatyan, Jivan, additional, Dvornik, Jill, additional, Hsiao, Jack S., additional, Cheon, Seon Hye, additional, Chung, Jonathan, additional, Sun, Yishan, additional, Dolmetsch, Ricardo E., additional, Worringer, Kathleen A., additional, and Ihry, Robert J., additional

Published
2021
Full Text
View/download PDF

33. The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

Author

Nehme, Ralda, primary, Pietiläinen, Olli, additional, Artomov, Mykyta, additional, Tegtmeyer, Matthew, additional, Bell, Christina, additional, Ganna, Andrea, additional, Singh, Tarjinder, additional, Trehan, Aditi, additional, Valakh, Vera, additional, Sherwood, John, additional, Manning, Danielle, additional, Peirent, Emily, additional, Malik, Rhea, additional, Guss, Ellen J., additional, Hawes, Derek, additional, Beccard, Amanda, additional, Bara, Anne M., additional, Hazelbaker, Dane Z., additional, Zuccaro, Emanuela, additional, Genovese, Giulio, additional, Loboda, Alexander A, additional, Neumann, Anna, additional, Lilliehook, Christina, additional, Kuismin, Outi, additional, Hamalainen, Eija, additional, Kurki, Mitja, additional, Hultman, Christina M., additional, Kähler, Anna K., additional, Paulo, Joao A., additional, Madison, Jon, additional, Cohen, Bruce, additional, McPhie, Donna, additional, Adolfsson, Rolf, additional, Perlis, Roy, additional, Dolmetsch, Ricardo, additional, Farhi, Samouil, additional, McCarroll, Steven, additional, Hyman, Steven, additional, Neale, Ben, additional, Barrett, Lindy E., additional, Harper, Wade, additional, Palotie, Aarno, additional, Daly, Mark, additional, and Eggan, Kevin, additional

Published
2021
Full Text
View/download PDF

34. F08 Huntington’s disease burden of illness (HDBOI): study methodology, sample representativeness and fieldwork risk mitigation strategy during the COVID-19 pandemic

Author

Rodríguez, Idaira, primary, Frank, Samuel, additional, Fisher, Alex, additional, Fuller, Rebecca, additional, Hamilton, Jamie L, additional, Hubberstey, Hayley, additional, Stanley, Cath, additional, Winkelmann, Michaela, additional, Ruiz, Leonardo, additional, Willock, Rosa, additional, Finnegan, Alan, additional, Dolmetsch, Ricardo E, additional, Li, Nanxin, additional, Ratsch, Sarah, additional, and Ali, Talaha M, additional

Published
2021
Full Text
View/download PDF

35. F07 Demographic characteristics and health resource use of the european participants from the huntington’s disease burden of illness study (HDBOI)

Author

Willock, Rosa, primary, Frank, Samuel, additional, Mestre, Tiago, additional, Arnesen, Astri, additional, Fisher, Alex, additional, Hubberstey, Hayley, additional, Stanley, Cath, additional, Winkelmann, Michaela, additional, Rodríguez, Idaira, additional, Ruiz, Leonardo, additional, Dolmetsch, Ricardo E, additional, Li, Nanxin, additional, Ratsch, Sarah, additional, and Ali, Talaha M, additional

Published
2021
Full Text
View/download PDF

36. A framework for the investigation of rare genetic disorders in neuropsychiatry

Author

McGovern Institute for Brain Research at MIT, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Sanders, Stephan J., Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L., Modi, Meera E., Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H., Glahn, David C., Goldstein, David B., Ledbetter, David H., Mulle, Jennifer G., Pasca, Sergiu P., Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E., Bearden, Carrie E., McGovern Institute for Brain Research at MIT, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Sanders, Stephan J., Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L., Modi, Meera E., Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H., Glahn, David C., Goldstein, David B., Ledbetter, David H., Mulle, Jennifer G., Pasca, Sergiu P., Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E., and Bearden, Carrie E.

Abstract

De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to elucidate the mechanisms underlying neuropsychiatric disorders by investigating the pathophysiology of high-penetrance genetic risk factors. Here we seek out the best path forward for achieving these goals. We think future research will require consistent approaches across multiple RGDs and developmental stages, involving both the characterization of shared neuropsychiatric dimensions in humans and the identification of neurobiological commonalities in model systems. A coordinated and concerted effort across patients, families, researchers, clinicians and institutions, including rapid and broad sharing of data, is now needed to translate these discoveries into urgently needed therapies.

Published
2021

37. 16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development

Author

Roth, Julien G, primary, Muench, Kristin L, additional, Asokan, Aditya, additional, Mallett, Victoria M, additional, Gai, Hui, additional, Verma, Yogendra, additional, Weber, Stephen, additional, Charlton, Carol, additional, Fowler, Jonas L, additional, Loh, Kyle M, additional, Dolmetsch, Ricardo E, additional, and Palmer, Theo D, additional

Published
2020
Full Text
View/download PDF

38. Author response: 16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development

Author

Roth, Julien G, primary, Muench, Kristin L, additional, Asokan, Aditya, additional, Mallett, Victoria M, additional, Gai, Hui, additional, Verma, Yogendra, additional, Weber, Stephen, additional, Charlton, Carol, additional, Fowler, Jonas L, additional, Loh, Kyle M, additional, Dolmetsch, Ricardo E, additional, and Palmer, Theo D, additional

Published
2020
Full Text
View/download PDF

39. Copy Number Variation at 16p11.2 Imparts Transcriptional Alterations in Neural Development in an hiPSC-derived Model of Corticogenesis

Author

Roth, Julien G., primary, Muench, Kristin L., additional, Asokan, Aditya, additional, Mallett, Victoria M., additional, Gai, Hui, additional, Verma, Yogendra, additional, Weber, Stephen, additional, Charlton, Carol, additional, Fowler, Jonas L., additional, Loh, Kyle M., additional, Dolmetsch, Ricardo E., additional, and Palmer, Theo D., additional

Published
2020
Full Text
View/download PDF

42. Durability of Bleeding Protection and Factor IX Activity Levels Are Demonstrated in Individuals with and without Adeno-Associated Virus Serotype 5 Neutralizing Antibodies (Titers <1:700) with Comparable Safety in the Phase 3 HOPE-B Clinical Trial of Etranacogene Dezaparvovec Gene Therapy for Hemophilia B

Author

Pipe, Steven W., Leebeek, Frank W.G., Recht, Michael, Key, Nigel S., Lattimore, Susan, Castaman, Giancarlo, Cooper, David, Verweij, Stephanie, Dolmetsch, Ricardo, Tarrant, Jacqueline, Li, Yanyan, Monahan, Paul E., and Miesbach, Wolfgang A.

Published
2022
Full Text
View/download PDF

43. P4‐339: THE MEDIA STUDY: A NOVEL METHOD FOR EVALUATING DIGITAL ENDPOINTS IN ALZHEIMER'S DISEASE

Author

Hannesdottir, Kristin, primary, Sverdlov, Oleksandr, additional, Curcic, Jelena, additional, Vargas, Gabriel, additional, Hache, Tilo, additional, Serra, Denise, additional, Clay, Ieuan, additional, Thornton-Wells, Tricia, additional, Praestgaard, Jens, additional, Deurinck, Mark, additional, Graf, Ana, additional, Dolmetsch, Ricardo, additional, Beckman, Evan, additional, and Cha, Jang-Ho, additional

Published
2018
Full Text
View/download PDF

44. Genome-Scale CRISPR Screening Identifies Novel Human Pluripotent Gene Networks

Author

Ihry, Robert J., primary, Salick, Max R., additional, Ho, Daniel J., additional, Sondey, Marie, additional, Kommineni, Sravya, additional, Paula, Steven, additional, Raymond, Joe, additional, Frias, Elizabeth, additional, Worringer, Kathleen A., additional, Russ, Carsten, additional, Reece-Hoyes, John, additional, Altshuler, Bob, additional, Randhawa, Ranjit, additional, Yang, Zinger, additional, McAllister, Gregory, additional, Hoffman, Gregory R., additional, Dolmetsch, Ricardo, additional, and Kaykas, Ajamete, additional

Published
2018
Full Text
View/download PDF

47. P53 toxicity is a hurdle to CRISPR/CAS9 screening and engineering in human pluripotent stem cells

Author

Ihry, Robert J., primary, Worringer, Kathleen A., additional, Salick, Max R., additional, Frias, Elizabeth, additional, Ho, Daniel, additional, Theriault, Kraig, additional, Kommineni, Sravya, additional, Chen, Julie, additional, Sondey, Marie, additional, Ye, Chaoyang, additional, Randhawa, Ranjit, additional, Kulkarni, Tripti, additional, Yang, Zinger, additional, McAllister, Gregory, additional, Russ, Carsten, additional, Reece-Hoyes, John, additional, Forrester, William, additional, Hoffman, Gregory R., additional, Dolmetsch, Ricardo, additional, and Kaykas, Ajamete, additional

Published
2017
Full Text
View/download PDF

48. A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

Author

Sun, Yishan, primary, Paşca, Sergiu P, additional, Portmann, Thomas, additional, Goold, Carleton, additional, Worringer, Kathleen A, additional, Guan, Wendy, additional, Chan, Karen C, additional, Gai, Hui, additional, Vogt, Daniel, additional, Chen, Ying-Jiun J, additional, Mao, Rong, additional, Chan, Karrie, additional, Rubenstein, John LR, additional, Madison, Daniel V, additional, Hallmayer, Joachim, additional, Froehlich-Santino, Wendy M, additional, Bernstein, Jonathan A, additional, and Dolmetsch, Ricardo E, additional

Published
2016
Full Text
View/download PDF

49. Author response: A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

Author

Sun, Yishan, primary, Paşca, Sergiu P, additional, Portmann, Thomas, additional, Goold, Carleton, additional, Worringer, Kathleen A, additional, Guan, Wendy, additional, Chan, Karen C, additional, Gai, Hui, additional, Vogt, Daniel, additional, Chen, Ying-Jiun J, additional, Mao, Rong, additional, Chan, Karrie, additional, Rubenstein, John LR, additional, Madison, Daniel V, additional, Hallmayer, Joachim, additional, Froehlich-Santino, Wendy M, additional, Bernstein, Jonathan A, additional, and Dolmetsch, Ricardo E, additional

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results