M Poot. Mol Syndromol 2013
Times Cited: 15
Times Cited: 15
Times Cited
Times Co-cited
Similarity
Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.
R Hochstenbach, J E Buizer-Voskamp, J A S Vorstman, R A Ophoff. Cytogenet Genome Res 2011
R Hochstenbach, J E Buizer-Voskamp, J A S Vorstman, R A Ophoff. Cytogenet Genome Res 2011
46
Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.
M Poot, J J van der Smagt, E H Brilstra, T Bourgeron. Cytogenet Genome Res 2011
M Poot, J J van der Smagt, E H Brilstra, T Bourgeron. Cytogenet Genome Res 2011
40
Structural variation of chromosomes in autism spectrum disorder.
Christian R Marshall, Abdul Noor, John B Vincent, Anath C Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren,[...]. Am J Hum Genet 2008
Christian R Marshall, Abdul Noor, John B Vincent, Anath C Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren,[...]. Am J Hum Genet 2008
40
Phenotypic variability and genetic susceptibility to genomic disorders.
Santhosh Girirajan, Evan E Eichler. Hum Mol Genet 2010
Santhosh Girirajan, Evan E Eichler. Hum Mol Genet 2010
33
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.
Martin Poot, Marc J Eleveld, Ruben van 't Slot, Hans Kristian Ploos van Amstel, Ron Hochstenbach. Eur J Hum Genet 2010
Martin Poot, Marc J Eleveld, Ruben van 't Slot, Hans Kristian Ploos van Amstel, Ron Hochstenbach. Eur J Hum Genet 2010
33
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Emma van Daalen, Chantal Kemner, Nienke E Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske Houben, Ruben van 't Slot, Maretha V de Jonge, Wouter G Staal,[...]. Neurogenetics 2011
Emma van Daalen, Chantal Kemner, Nienke E Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske Houben, Ruben van 't Slot, Maretha V de Jonge, Wouter G Staal,[...]. Neurogenetics 2011
33
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam,[...]. PLoS Genet 2012
Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam,[...]. PLoS Genet 2012
33
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
33
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
26
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.
Martin Poot, Vera Beyer, Ira Schwaab, Natalja Damatova, Ruben Van't Slot, Jo Prothero, Sue E Holder, Thomas Haaf. Neurogenetics 2010
Martin Poot, Vera Beyer, Ira Schwaab, Natalja Damatova, Ruben Van't Slot, Jo Prothero, Sue E Holder, Thomas Haaf. Neurogenetics 2010
26
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
20
Discovery of variants unmasked by hemizygous deletions.
Ron Hochstenbach, Martin Poot, Isaac J Nijman, Ivo Renkens, Karen J Duran, Ruben Van't Slot, Ellen van Binsbergen, Bert van der Zwaag, Maartje J Vogel, Paulien A Terhal,[...]. Eur J Hum Genet 2012
Ron Hochstenbach, Martin Poot, Isaac J Nijman, Ivo Renkens, Karen J Duran, Ruben Van't Slot, Ellen van Binsbergen, Bert van der Zwaag, Maartje J Vogel, Paulien A Terhal,[...]. Eur J Hum Genet 2012
20
Functional impact of global rare copy number variation in autism spectrum disorders.
Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R Magalhaes, Catarina Correia, Brett S Abrahams,[...]. Nature 2010
Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R Magalhaes, Catarina Correia, Brett S Abrahams,[...]. Nature 2010
20
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
20
Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
20
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma'ayan, Kaitlin E Samocha, Aniko Sabo, Chiao-Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov,[...]. Nature 2012
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma'ayan, Kaitlin E Samocha, Aniko Sabo, Chiao-Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov,[...]. Nature 2012
20
Genic intolerance to functional variation and the interpretation of personal genomes.
Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein. PLoS Genet 2013
Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein. PLoS Genet 2013
20
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Maja Bucan, Brett S Abrahams, Kai Wang, Joseph T Glessner, Edward I Herman, Lisa I Sonnenblick, Ana I Alvarez Retuerto, Marcin Imielinski, Dexter Hadley, Jonathan P Bradfield,[...]. PLoS Genet 2009
Maja Bucan, Brett S Abrahams, Kai Wang, Joseph T Glessner, Edward I Herman, Lisa I Sonnenblick, Ana I Alvarez Retuerto, Marcin Imielinski, Dexter Hadley, Jonathan P Bradfield,[...]. PLoS Genet 2009
20
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
Brian J O'Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J Schwartz, Santhosh Girirajan, Emre Karakoc, Alexandra P Mackenzie, Sarah B Ng, Carl Baker,[...]. Nat Genet 2011
Brian J O'Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J Schwartz, Santhosh Girirajan, Emre Karakoc, Alexandra P Mackenzie, Sarah B Ng, Carl Baker,[...]. Nat Genet 2011
20
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Stephan J Sanders, Michael T Murtha, Abha R Gupta, John D Murdoch, Melanie J Raubeson, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Nicholas M DiLullo, Neelroop N Parikshak, Jason L Stein,[...]. Nature 2012
Stephan J Sanders, Michael T Murtha, Abha R Gupta, John D Murdoch, Melanie J Raubeson, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Nicholas M DiLullo, Neelroop N Parikshak, Jason L Stein,[...]. Nature 2012
20
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Daria Salyakina, Holly N Cukier, Joycelyn M Lee, Stephanie Sacharow, Laura D Nations, Deqiong Ma, James M Jaworski, Ioanna Konidari, Patrice L Whitehead, Harry H Wright,[...]. PLoS One 2011
Daria Salyakina, Holly N Cukier, Joycelyn M Lee, Stephanie Sacharow, Laura D Nations, Deqiong Ma, James M Jaworski, Ioanna Konidari, Patrice L Whitehead, Harry H Wright,[...]. PLoS One 2011
20
A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
20
Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections.
Y Yue, K Stout, B Grossmann, U Zechner, A Brinckmann, C White, D T Pilz, T Haaf. J Med Genet 2006
Y Yue, K Stout, B Grossmann, U Zechner, A Brinckmann, C White, D T Pilz, T Haaf. J Med Genet 2006
13
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.
Jill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, Santhosh Girirajan, Evan E Eichler, Lisa G Shaffer, Blake C Ballif. J Neurodev Disord 2010
Jill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, Santhosh Girirajan, Evan E Eichler, Lisa G Shaffer, Blake C Ballif. J Neurodev Disord 2010
13
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley,[...]. J Med Genet 2010
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley,[...]. J Med Genet 2010
13
The genetics of autistic disorders and its clinical relevance: a review of the literature.
C M Freitag. Mol Psychiatry 2007
C M Freitag. Mol Psychiatry 2007
13
A case-control family history study of autism.
P Bolton, H Macdonald, A Pickles, P Rios, S Goode, M Crowson, A Bailey, M Rutter. J Child Psychol Psychiatry 1994
P Bolton, H Macdonald, A Pickles, P Rios, S Goode, M Crowson, A Bailey, M Rutter. J Child Psychol Psychiatry 1994
13
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.
Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer,[...]. PLoS Genet 2013
Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer,[...]. PLoS Genet 2013
13
The genetic landscapes of autism spectrum disorders.
Guillaume Huguet, Elodie Ey, Thomas Bourgeron. Annu Rev Genomics Hum Genet 2013
Guillaume Huguet, Elodie Ey, Thomas Bourgeron. Annu Rev Genomics Hum Genet 2013
13
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, Rui Luo, Michael T Murtha, Daniel Moreno-De-Luca, Su H Chu, Michael P Moreau, Abha R Gupta, Susanne A Thomson,[...]. Neuron 2011
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, Rui Luo, Michael T Murtha, Daniel Moreno-De-Luca, Su H Chu, Michael P Moreau, Abha R Gupta, Susanne A Thomson,[...]. Neuron 2011
13
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot-Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette,[...]. Eur J Hum Genet 2014
Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot-Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette,[...]. Eur J Hum Genet 2014
13
Shining a light on CNTNAP2: complex functions to complex disorders.
Pedro Rodenas-Cuadrado, Joses Ho, Sonja C Vernes. Eur J Hum Genet 2014
Pedro Rodenas-Cuadrado, Joses Ho, Sonja C Vernes. Eur J Hum Genet 2014
13
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.
Olga Peñagarikano, Brett S Abrahams, Edward I Herman, Kellen D Winden, Amos Gdalyahu, Hongmei Dong, Lisa I Sonnenblick, Robin Gruver, Joel Almajano, Anatol Bragin,[...]. Cell 2011
Olga Peñagarikano, Brett S Abrahams, Edward I Herman, Kellen D Winden, Amos Gdalyahu, Hongmei Dong, Lisa I Sonnenblick, Robin Gruver, Joel Almajano, Anatol Bragin,[...]. Cell 2011
13
A functional genetic link between distinct developmental language disorders.
Sonja C Vernes, Dianne F Newbury, Brett S Abrahams, Laura Winchester, Jérôme Nicod, Matthias Groszer, Maricela Alarcón, Peter L Oliver, Kay E Davies, Daniel H Geschwind,[...]. N Engl J Med 2008
Sonja C Vernes, Dianne F Newbury, Brett S Abrahams, Laura Winchester, Jérôme Nicod, Matthias Groszer, Maricela Alarcón, Peter L Oliver, Kay E Davies, Daniel H Geschwind,[...]. N Engl J Med 2008
13
Individual common variants exert weak effects on the risk for autism spectrum disorders.
Richard Anney, Lambertus Klei, Dalila Pinto, Joana Almeida, Elena Bacchelli, Gillian Baird, Nadia Bolshakova, Sven Bölte, Patrick F Bolton, Thomas Bourgeron,[...]. Hum Mol Genet 2012
Richard Anney, Lambertus Klei, Dalila Pinto, Joana Almeida, Elena Bacchelli, Gillian Baird, Nadia Bolshakova, Sven Bölte, Patrick F Bolton, Thomas Bourgeron,[...]. Hum Mol Genet 2012
13
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.
Sarah Curran, Patrick Bolton, Kinga Rozsnyai, Andreas Chiocchetti, Sabine M Klauck, Eftichia Duketis, Fritz Poustka, Sabine Schlitt, Christine M Freitag, Irene Lee,[...]. Am J Med Genet B Neuropsychiatr Genet 2011
Sarah Curran, Patrick Bolton, Kinga Rozsnyai, Andreas Chiocchetti, Sabine M Klauck, Eftichia Duketis, Fritz Poustka, Sabine Schlitt, Christine M Freitag, Irene Lee,[...]. Am J Med Genet B Neuropsychiatr Genet 2011
13
What does CNTNAP2 reveal about autism spectrum disorder?
Olga Peñagarikano, Daniel H Geschwind. Trends Mol Med 2012
Olga Peñagarikano, Daniel H Geschwind. Trends Mol Med 2012
13
Functional enrichment analysis with structural variants: pitfalls and strategies.
C Webber. Cytogenet Genome Res 2011
C Webber. Cytogenet Genome Res 2011
13
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
Michael J Schmeisser, Elodie Ey, Stephanie Wegener, Juergen Bockmann, A Vanessa Stempel, Angelika Kuebler, Anna-Lena Janssen, Patrick T Udvardi, Ehab Shiban, Christina Spilker,[...]. Nature 2012
Michael J Schmeisser, Elodie Ey, Stephanie Wegener, Juergen Bockmann, A Vanessa Stempel, Angelika Kuebler, Anna-Lena Janssen, Patrick T Udvardi, Ehab Shiban, Christina Spilker,[...]. Nature 2012
13
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice.
Xiaoming Wang, Qiong Xu, Alexandra L Bey, Yoonji Lee, Yong-Hui Jiang. Mol Autism 2014
Xiaoming Wang, Qiong Xu, Alexandra L Bey, Yoonji Lee, Yong-Hui Jiang. Mol Autism 2014
13
Distribution and intensity of constraint in mammalian genomic sequence.
Gregory M Cooper, Eric A Stone, George Asimenos, Eric D Green, Serafim Batzoglou, Arend Sidow. Genome Res 2005
Gregory M Cooper, Eric A Stone, George Asimenos, Eric D Green, Serafim Batzoglou, Arend Sidow. Genome Res 2005
13
The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
13
Widespread differences in cortex DNA methylation of the "language gene" CNTNAP2 between humans and chimpanzees.
Eberhard Schneider, Nady El Hajj, Steven Richter, Justin Roche-Santiago, Indrajit Nanda, Werner Schempp, Peter Riederer, Bianca Navarro, Ronald E Bontrop, Ivanela Kondova,[...]. Epigenetics 2014
Eberhard Schneider, Nady El Hajj, Steven Richter, Justin Roche-Santiago, Indrajit Nanda, Werner Schempp, Peter Riederer, Bianca Navarro, Ronald E Bontrop, Ivanela Kondova,[...]. Epigenetics 2014
13
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
Almuth Caliebe, Hester Y Kroes, Jasper J van der Smagt, José I Martin-Subero, Holger Tönnies, Ruben van 't Slot, Rutger A J Nievelstein, Hiltrud Muhle, Ulrich Stephani, Karsten Alfke,[...]. Eur J Med Genet 2010
Almuth Caliebe, Hester Y Kroes, Jasper J van der Smagt, José I Martin-Subero, Holger Tönnies, Ruben van 't Slot, Rutger A J Nievelstein, Hiltrud Muhle, Ulrich Stephani, Karsten Alfke,[...]. Eur J Med Genet 2010
13
Antisense may make sense of 1q44 deletions, seizures, and HNRNPU.
Martin Poot, Martien J Kas. Am J Med Genet A 2013
Martin Poot, Martien J Kas. Am J Med Genet A 2013
20
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I Bader, Roger L Ladda, Susan L Sell, Michelle Steinraths, Urvashi Surti, Marianne McGuire,[...]. Hum Genet 2012
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I Bader, Roger L Ladda, Susan L Sell, Michelle Steinraths, Urvashi Surti, Marianne McGuire,[...]. Hum Genet 2012
13
Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.
Thomas Portmann, Mu Yang, Rong Mao, Georgia Panagiotakos, Jacob Ellegood, Gul Dolen, Patrick L Bader, Brad A Grueter, Carleton Goold, Elaine Fisher,[...]. Cell Rep 2014
Thomas Portmann, Mu Yang, Rong Mao, Georgia Panagiotakos, Jacob Ellegood, Gul Dolen, Patrick L Bader, Brad A Grueter, Carleton Goold, Elaine Fisher,[...]. Cell Rep 2014
13
Complex chromosomal rearrangements: origin and meiotic behavior.
F Pellestor, T Anahory, G Lefort, J Puechberty, T Liehr, B Hédon, P Sarda. Hum Reprod Update 2011
F Pellestor, T Anahory, G Lefort, J Puechberty, T Liehr, B Hédon, P Sarda. Hum Reprod Update 2011
13
Properties and rates of germline mutations in humans.
Catarina D Campbell, Evan E Eichler. Trends Genet 2013
Catarina D Campbell, Evan E Eichler. Trends Genet 2013
13
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.