Search Results - "Vorstman, Jacob A S"

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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Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome by Fiksinski, Ania M., Schneider, Maude, Zinkstok, Janneke, Baribeau, Danielle, Chawner, Samuel J. R. A., Vorstman, Jacob A. S.

“…Purpose of Review The 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known…”
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Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects by Everaert, Emma, Vorstman, Jacob A S, Selten, Iris S, Slieker, Martijn G, Wijnen, Frank, Boerma, Tessel D, Houben, Michiel L

“…Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed…”
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Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome by Korteling, Dorinde, Boks, Marco P., Fiksinski, Ania M., van Hoek, Ilja N., Vorstman, Jacob A. S., Verhoeven-Duif, Nanda M., Jans, Judith J. M., Zinkstok, Janneke R.

“…The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental…”
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Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method by Schneider, Maude, Vaessen, Thomas, van Duin, Esther D A, Kasanova, Zuzana, Viechtbauer, Wolfgang, Reininghaus, Ulrich, Vingerhoets, Claudia, Booij, Jan, Swillen, Ann, Vorstman, Jacob A S, van Amelsvoort, Thérèse, Myin-Germeys, Inez

“…22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with an increased risk of psychiatric disorders. Vulnerability for psychopathology has…”
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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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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions by AlMail, Ali, Jamjoom, Ahmed, Pan, Amy, Feng, Min Yi, Chau, Vann, D’Gama, Alissa M., Howell, Katherine, Liang, Nicole S. Y., McTague, Amy, Poduri, Annapurna, Wiltrout, Kimberly, Bassett, Anne S., Christodoulou, John, Dupuis, Lucie, Gill, Peter, Levy, Tess, Siper, Paige, Stark, Zornitza, Vorstman, Jacob A. S., Diskin, Catherine, Jewitt, Natalie, Baribeau, Danielle, Costain, Gregory

“…Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to…”
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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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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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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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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders by Costain, Gregory, Walker, Susan, Argiropoulos, Bob, Baribeau, Danielle A, Bassett, Anne S, Boot, Erik, Devriendt, Koen, Kellam, Barbara, Marshall, Christian R, Prasad, Aparna, Serrano, Moises A, Stavropoulos, D James, Twede, Hope, Vermeesch, Joris R, Vorstman, Jacob A S, Scherer, Stephen W

“…Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to…”
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Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome by Magnée, Maurice J C M, Lamme, Victor A F, de Sain-van der Velden, Monique G M, Vorstman, Jacob A S, Kemner, Chantal

“…Individuals with the 22q11.2 deletion syndrome (22q11DS) are at increased risk for schizophrenia and Autism Spectrum Disorders (ASDs). Given the prevalence of…”
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Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism by van Daalen, Emma, Kemner, Chantal, Verbeek, Nienke E., van der Zwaag, Bert, Dijkhuizen, Trijnie, Rump, Patrick, Houben, Renske, van ‘t Slot, Ruben, de Jonge, Maretha V., Staal, Wouter G., Beemer, Frits A., Vorstman, Jacob A. S., Burbach, J. Peter H., van Amstel, Hans Kristian Ploos, Hochstenbach, Ron, Brilstra, Eva H., Poot, Martin

“…Recent array-based studies have detected a wealth of copy number variations (CNVs) in patients with autism spectrum disorders (ASD). Since CNVs also occur in…”
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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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Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome by Fiksinski, Ania M., Schneider, Maude, Murphy, Clodagh M., Armando, Marco, Vicari, Stefano, Canyelles, Jaume M., Gothelf, Doron, Eliez, Stephan, Breetvelt, Elemi J., Arango, Celso, Vorstman, Jacob A. S.

“…The purpose of this article is to provide an overview of current insights into the neurodevelopmental and psychiatric manifestations of 22q11.2 deletion…”
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Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia by Lin, Jhih-Rong, Zhao, Yingjie, Jabalameli, M. Reza, Nguyen, Nha, Mitra, Joydeep, Swillen, Ann, Vorstman, Jacob A. S., Chow, Eva W. C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., Owen, Michael J., Williams, Nigel M., Bassett, Anne S., McDonald-McGinn, Donna M., Gur, Raquel E., Bearden, Carrie E., Morrow, Bernice E., Lachman, Herbert M., Zhang, Zhengdong D.

“…22q11.2 deletion is one of the strongest known genetic risk factors for schizophrenia. Recent whole-genome sequencing of schizophrenia cases and controls with…”
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From Genes to Therapy in Autism Spectrum Disorder by Vorstman, Jacob A. S, Freitag, Christine M, Persico, Antonio M

“…In recent years, findings from genetic and other biological studies are starting to reveal the role of various molecular mechanisms that contribute to the…”
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Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model by Fiksinski, Ania M, Heung, Tracy, Corral, Maria, Breetvelt, Elemi J, Costain, Gregory, Marshall, Christian R, Kahn, Rene S, Vorstman, Jacob A S, Bassett, Anne S

“…Genotype-first and within-family studies can elucidate factors that contribute to psychiatric illness. Combining these approaches, we investigated the patterns…”
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The 22Q11.2 Deletion in Children: High Rate of Autistic Disorders and Early Onset of Psychotic Symptoms by Vorstman, Jacob A. S, Morcus, Monique E. J, Duijff, Sasja N, Klaassen, Petra W. J, Heineman-de, Josien A, Beemer, Frits A, Swaab, Hanna, Kahn, Rene S, van Engeland, Herman

“…Objective: To examine psychopathology and influence of intelligence level on psychiatric symptoms in children with the 22q11.2 deletion syndrome (22q11DS)…”
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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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