Search Results - "Vorstman, Jacob A.S."

Genome-Wide Analysis Shows Increased Frequency of Copy Number Variation Deletions in Dutch Schizophrenia Patients by Buizer-Voskamp, Jacobine E, Muntjewerff, Jan-Willem, Strengman, Eric, Sabatti, Chiara, Stefansson, Hreinn, Vorstman, Jacob A.S, Ophoff, Roel A

“…Background Since 2008, multiple studies have reported on copy number variations (CNVs) in schizophrenia. However, many regions are unique events with minimal…”
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TWENTY YEARS OF RESEARCH ON THE 22Q11.2 DELETION SYNDROME AND SCHIZOPHRENIA: WHAT HAVE WE LEARNED SO FAR? by Vorstman, Jacob A.S, Kahn, René

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Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion by Vorstman, Jacob A.S, Breetvelt, Elemi J, Thode, Kirstin I, Chow, Eva W.C, Bassett, Anne S

“…Abstract Background Copy number variants (CNVs) associated with neuropsychiatric disorders are increasingly being identified. While the initial reports were…”
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Self-Reported Speech Problems in Adolescents and Young Adults with 22q11.2 Deletion Syndrome: A Cross-Sectional Cohort Study by Spruijt, Nicole E, Vorstman, Jacob A.S, Kon, Moshe, Molen, Aebele B. Mink Van Der

“…Background Speech problems are a common clinical feature of the 22q11.2 deletion syndrome. The objectives of this study were to inventory the speech history…”
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THE 22Q11.2 DELETION SYNDROME AS A MODEL FOR DEMENTIA PRAECOX by Vorstman, Jacob A.S, Breetvelt, Elemi, Duijff, Sasja, Kahn, René

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Using genetic findings in autism for the development of new pharmaceutical compounds by Vorstman, Jacob A. S., Spooren, Will, Persico, Antonio M., Collier, David A., Aigner, Stefan, Jagasia, Ravi, Glennon, Jeffrey C., Buitelaar, Jan K.

“…Rationale The main reason for the current lack of effective treatments for the core symptoms of autism is our limited understanding of the biological…”
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Increased paternal age and the influence on burden of genomic copy number variation in the general population by Buizer-Voskamp, Jacobine E., Blauw, Hylke M., Boks, Marco P. M., van Eijk, Kristel R., Veldink, Jan H., Hennekam, Eric A. M., Vorstman, Jacob A. S., Mulder, Flip, Tiemeier, Henning, Uitterlinden, André G., Kiemeney, Lambertus A., van den Berg, Leonard H., Kahn, René S., Sabatti, Chiara, Ophoff, Roel A.

“…Genomic copy number variations (CNVs) and increased parental age are both associated with the risk to develop a variety of clinical neuropsychiatric disorders…”
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Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia by Hoogendoorn, Mechteld L.C, Vorstman, Jacob A.S, Jalali, Gholam R, Selten, Jean-Paul, Sinke, Richard J, Emanuel, Beverly S, Kahn, René S

“…Abstract The objectives of this study were 1) to examine whether the prevalence of 22q11.2 deletion syndrome (22q11DS) in schizophrenia patients with the…”
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AUTISM IN CHILDREN WITH 22Q11.2 DELETION SYNDROME by Vorstman, Jacob A.S., M.D, Morcus, Monique E.J., M.Sc, van Engeland, Herman, M.D., Ph.D

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PSYCHOPATHOLOGY IN 22q11 DELETION SYNDROME by Vorstman, Jacob A.S., M.D, Morcus, Monique E.J., M.Sc, van Engeland, Herman, M.D., Ph.D

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Autism genetics: opportunities and challenges for clinical translation by Vorstman, Jacob A. S., Parr, Jeremy R., Moreno-De-Luca, Daniel, Anney, Richard J. L., Nurnberger Jr, John I., Hallmayer, Joachim F.

“…Key Points A rapidly growing list of rare genetic causes of autism spectrum disorders (ASDs) is being identified, giving insights into the underlying biology…”
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Contemplating syndromic autism by Vorstman, Jacob A.S., Scherer, Stephen W.

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A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome by Fiksinski, Ania M., Hoftman, Gil D., Vorstman, Jacob A. S., Bearden, Carrie E.

“…Recently, increasing numbers of rare pathogenic genetic variants have been identified that are associated with variably elevated risks of a range of…”
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Selective Serotonin Reuptake Inhibitor Treatment Post Gene Therapy for an Ultrarare Neurometabolic Disorder (AADC Deficiency) by Baribeau, Danielle A., Vorstman, Jacob A.S., Pearson, Toni S.

“…A 7-year-old girl presented with persistent anxiety symptoms for several years following gene therapy for an ultrarare neurometabolic disorder (aromatic…”
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders by Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Vorstman, Jacob A.S., Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T., Oliveira, Bárbara, Magalhaes, Tiago R., Lowe, Jennifer K., Howe, Jennifer L., Gilbert, John, Duketis, Eftichia, Dombroski, Beth A., Cuccaro, Michael, Crawford, Emily L., Correia, Catarina T., Conroy, Judith, Conceição, Inês C., Chiocchetti, Andreas G., Casey, Jillian P., Cai, Guiqing, Cabrol, Christelle, Bacchelli, Elena, Gallinger, Steven, Cotterchio, Michelle, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L. Alison, McGrew, Susan G., Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S., Kolevzon, Alexander, Jiménez González, Patricia, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F., Bernier, Raphael, Baird, Gillian, Bailey, Anthony J., Almeida, Joana, Wijsman, Ellen M., Vieland, Veronica J., Vicente, Astrid M., Schellenberg, Gerard D., Pericak-Vance, Margaret, Paterson, Andrew D., Parr, Jeremy R., Oliveira, Guiomar, Nurnberger, John I., Monaco, Anthony P., Maestrini, Elena, Klauck, Sabine M., Hakonarson, Hakon, Haines, Jonathan L., Geschwind, Daniel H., Freitag, Christine M., Folstein, Susan E., Ennis, Sean, Coon, Hilary, Battaglia, Agatino, Szatmari, Peter, Sutcliffe, James S., Hallmayer, Joachim, Gill, Michael, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Gallagher, Louise, Betancur, Catalina, Scherer, Stephen W.

“…Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an…”
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22q11.2 deletion syndrome by McDonald-McGinn, Donna M., Sullivan, Kathleen E., Marino, Bruno, Philip, Nicole, Swillen, Ann, Vorstman, Jacob A. S., Zackai, Elaine H., Emanuel, Beverly S., Vermeesch, Joris R., Morrow, Bernice E., Scambler, Peter J., Bassett, Anne S.

“…22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic…”
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A framework for an evidence-based gene list relevant to autism spectrum disorder by Schaaf, Christian P., Betancur, Catalina, Yuen, Ryan K. C., Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A., Buchanan, Janet A., Buxbaum, Joseph D., Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W., Vorstman, Jacob A. S.

“…Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical…”
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Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology by Jacquemont, Sébastien, Huguet, Guillaume, Klein, Marieke, Chawner, Samuel J.R.A, Donald, Kirsten A, van den Bree, Marianne B.M, Sebat, Jonathan, Ledbetter, David H, Constantino, John N, Earl, Rachel K, McDonald-McGinn, Donna M, van Amelsvoort, Therese, Swillen, Ann, O’Donnell-Luria, Anne H, Glahn, David C, Almasy, Laura, Eichler, Evan E, Scherer, Stephen W, Robinson, Elise, Bassett, Anne S, Martin, Christa Lese, Finucane, Brenda, Vorstman, Jacob A.S, Bearden, Carrie E, Gur, Raquel E

“…Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape of…”
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Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome by Vorstman, Jacob A S, Breetvelt, Elemi J, Duijff, Sasja N, Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R, Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J, Young, Donald A, McDonald-McGinn, Donna M, Vogels, Annick, van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R, Antshel, Kevin M, Simon, Tony J, Ousley, Opal Y, Swillen, Ann, Gur, Raquel E, Bearden, Carrie E, Kahn, René S, Bassett, Anne S

“…Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of…”
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Neurobiological perspective of 22q11.2 deletion syndrome by Zinkstok, Janneke R, Boot, Erik, Bassett, Anne S, Hiroi, Noboru, Butcher, Nancy J, Vingerhoets, Claudia, Vorstman, Jacob A S, van Amelsvoort, Therese A M J

“…22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including…”
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