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1. Full Text APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease
by Veltman, JA and Brunner, HG
NATURE REVIEWS GENETICS, ISSN 1471-0056, 08/2012, Volume 13, Issue 8, pp. 565 - 575
New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based... 
INTELLECTUAL DISABILITY | GERMLINE | 17Q21.31 MICRODELETION SYNDROME | MEIOTIC RECOMBINATION HOTSPOTS | GENETICS & HEREDITY | AGE EFFECT MUTATIONS | SPECTRUM | COPY NUMBER VARIATION | SOMATIC MOSAICISM | SELECTION | COMMON INVERSION
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2. Full Text 2017 Curt Stern Award Introduction: Nico Katsanis
by Brunner, Han G
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 354 - 354
GENETICS & HEREDITY | Awards and Prizes | Genetics, Medical - history | History, 21st Century | History, 20th Century | Index Medicus
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3. Full Text 2017 Curt Stern Award Introduction: Nico Katsanis1
by Brunner, Han G
American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, p. 354
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4. Full Text Meier-Gorlin syndrome Clinical genetics and genomics
by De Munnik, Sonja A and Hoefsloot, Elisabeth H and Roukema, Jolt and Schoots, Jeroen and Knoers, Nine Vam and Brunner, Han G and Jackson, Anew P and Bongers, Ernie Mhf
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2015, Volume 10, Issue 1
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a... 
Pre-replication complex | Ear patella short stature syndrome | Short stature | Meier-Gorlin syndrome | Patellar a-/hypoplasia | Microtia | Origin recognition complex
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5. Full Text Common genetic variants influence human subcortical brain structures
by Hibar, Derrek and Stein, J.L and Rentería, Miguel and Arias-Vásquez, Alejano and Desrivières, Sylvane and Jahanshad, Neda and Toro, Roberto and Wittfeld, Katharina and Abramovic, Lucija and Andersson, Micael and Aribisala, Benjamin and Armstrong, Nicola J and Bernard, Manon and Bohlken, Marc M and Boks, Marco and Bralten, Linda and Brown, Anew and Chakravarty, M. Mallar and Chen, Qiang and Ching, Christopher and Cuellar-Partida, Gabriel and Braber, Anouk and Giddaluru, Sudheer and Goldman, Aaron L and Grimm, Oliver and Guadalupe, Tulio and Hass, Johanna and Woldehawariat, Girma and Holmes, Avram and Hoogman, Martine and Janowitz, Deborah and Jia, Tianye and Kim, Shinseog and Klein, Marieke and Kraemer, Bernd and Lee, Phil H and Olde Loohuis, Loes M and Luciano, Michelle and MacAre, Christine and Mather, R and Mattheisen, Manuel and Milaneschi, Yuri and Nho, Kwangsik and Papmeyer, Martina and Ramasamy, Adaikalavan and Risacher, Shannon and Roiz-Santiañez, Roberto and Rose, Emma and Salami, Alireza and Sämann, Philipp and Schmaal, Lianne and Schork, Nicholas and Shin, Jean and Strike, Vanessa and Teumer, Alexander and Van Donkelaar, Marjolein M. J and Eijk, Kristel and Walters, Raymond and Westlye, Lars and Whelan, Christopher and Winkler, Anderson and Zwiers, Marcel and Alhusaini, Saud and Athanasiu, Lavinia and Ehrlich, Stefan and Hakobjan, Marina and Hartberg, Cecilie B and Haukvik, Unn and Heister, Angelien J. G. A. M and Hoehn, David and Kasperaviciute, Dalia and Liewald, David C and Lopez, Lorna and Makkinje, Remco R. R and Matarin, Mar and Naber, Marlies A. M and Reese McKay, D and Needham, Margaret and Nugent, Allison and Pütz, Benno and Royle, Natalie and Shen, Li and Sprooten, Roy and Trabzuni, Danyah and Van Der Marel, Saskia S. L and Van Hulzen, Kimm J. E and Walton, Esther and Björnsson, Asgeir and Almasy, Laura and Ames, David and Arepalli, Sampath and Assareh, A.A and Bastin, Mark and Brodaty, Henry and Bulayeva, Kazima and Carless, Melanie and Cichon, Sven and Corvin, Aiden and Curran, Joanne and Czisch, Michael and ... and EPIGEN and SYS and Alzheimers Dis Neuroimaging and CHARGE Consortium and IMAGEN and Alzheimer’s Disease Neuroimaging Initiative and The Alzheimer’s Disease Neuroimaging Initiative and The CHARGE Consortium and Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
Nature: international weekly journal of science, ISSN 0028-0836, 04/2015, Volume 520, Issue 7546, pp. 224 - 229
textabstractThe highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical... 
EVOLUTION | CHROMATIN | BASAL GANGLIA | MULTIDISCIPLINARY SCIENCES | HIPPOCAMPAL | DYNAMICS | IDENTIFICATION | EXPRESSION | KINECTIN | STRIATUM | GENOME-WIDE ASSOCIATION | Epigenetics | Brain | Genomes | Genes | Caudate Nucleus - anatomy & histology | Brain - anatomy & histology | Humans | Middle Aged | Genetic Loci - genetics | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Male | Young Adult | Putamen - anatomy & histology | Aging - genetics | Organ Size - genetics | Aged, 80 and over | Adult | Female | Child | Genome-Wide Association Study | Membrane Proteins - genetics | Sex Characteristics | Magnetic Resonance Imaging | Skull - anatomy & histology | Adolescent | Aged | Genetic Variation - genetics | Hippocampus - anatomy & histology | Genetic research | Genetic aspects | Brain research | Research | Genetic variation | Genomics | Index Medicus | Neuroscience | Cognitive science | Biological Sciences | Naturvetenskap | Natural Sciences | Biologiska vetenskaper
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6. Full Text Genome sequencing identifies major causes of severe intellectual disability
by Gilissen, C and Hehir-Kwa, J.Y and Thung, D.T and Vorst, M. van de and Bon, B.W.M. van and Willemsen, M.H and Kwint, M and Janssen, I.M and Hoischen, A and Schenck, A and Leach, R and Klein, R and Tearle, R and Bo, T and Pfundt, R and Yntema, H.G and Vries, B.B. de and Kleefstra, T and Brunner, H.G and Vissers, L.E.L.M and Veltman, J.A
Nature, ISSN 0028-0836, 2014, Volume 511, Issue 7509, pp. 344 - 347
Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic in origin. The extensive genetic heterogeneity of this... 
NETWORK | AUTISM | PROTEIN | DE-NOVO MUTATIONS | MENTAL-RETARDATION | VARIANTS | MULTIDISCIPLINARY SCIENCES | SCHIZOPHRENIA | SPECTRUM | COPY-NUMBER VARIATION | PARADIGM | Cohort Studies; Humans; Male | Intellectual disabilities | Genes | IQSEC2 protein, human | Genomes | Mutation | Patients | Sequence Analysis, DNA | Binding sites | Chromosomes, Human, Pair 4 | DNA Copy Number Variations | Guanine Nucleotide Exchange Factors | Guanine Nucleotide Exchange Factors - genetics | Chromosomes, Human, X - genetics | Humans | Male | DNA Copy Number Variations - genetics | Chromosomes, Human, Pair 4 - genetics | Mutation - genetics | Genome, Human - genetics | Intellectual Disability - genetics | Gene Duplication - genetics | Polymorphism, Single Nucleotide - genetics | Cohort Studies | Gene mutations | Genetic variation | Causes of | Genetic aspects | Nucleotide sequencing | Mental retardation | Identification and classification | Methods | DNA sequencing | Index Medicus
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7. Full Text Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations
by Wijers, Charlotte H. W and van Rooij, Iris A. L. M and Rassouli, Roxana and Wijnen, Marc H and Broens, Paul M. A and Sloots, Cornelius E. J and Brunner, Han G and De Blaauw, Ivo and Roeleveld, Nel
Epidemiology, ISSN 1044-3983, 03/2015, Volume 26, Issue 2, pp. 169 - 176
Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental... 
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8. Full Text Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
by de Ligt, Joep and Willemsen, Marjolein H and van Bon, Bregje W.M and Kleefstra, Tjitske and Yntema, Helger G and Kroes, Thessa and Vulto-van Silfhout, Anneke T and Koolen, David A and de Vries, Bert B.A and de Vries, Petra and Gilissen, Christian and del Rosario, Marisol and Hoischen, Alexander and Scheffer, Hans and Brunner, Han G and Veltman, Joris A and Vissers, Lisenka E.L.M
The New England Journal of Medicine, ISSN 0028-4793, 11/2012, Volume 367, Issue 20, pp. 1921 - 1929
In this study, exome sequencing yielded a genetic diagnosis in 16% of patients who had previously been evaluated to rule out known causes of intellectual... 
MEDICINE, GENERAL & INTERNAL | AUTISM | DE-NOVO MUTATIONS | MENTAL-RETARDATION | GENETICS | DISORDERS | SPECTRUM | CONGENITAL-ANOMALIES | Genes, Recessive - genetics | Humans | Male | Sequence Analysis, DNA | Intellectual Disability - genetics | Young Adult | Exome - genetics | Genes, X-Linked | Adolescent | Female | Genetic Diseases, X-Linked - genetics | Mutation | Child | Usage | Gene mutations | Exome sequencing | Causes of | Genetic aspects | Research | Diagnosis | Mental retardation | Disabled people | Phenotypes | Intellectual disabilities | Families & family life | Aging | Data processing | Quality of life | Index Medicus | Abridged Index Medicus
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9. Full Text Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
by Ligtenberg, M.J.L and Kuiper, R.P and Chan, T.L and Goossens, M and Hebeda, K.M and Voorendt, M and Lee, T.Y and Bodmer, D and Hoenselaar, E and Heniks-Cornelissen, S.J and Tsui, W.Y and Kong, C.K and Brunner, H.G and Geurts van Kessel, A.H.M and Yuen, S.T and Krieken, J.H.J.M. van and Leung, S.Y and Hoogerbrugge-van der Linden, N
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 1, pp. 112 - 117
Lynch syndrome patients are susceptible to colorectal and endometrial cancers owing to inactivating germline mutations in mismatch repair genes, including MSH2... 
PROMOTER HYPERMETHYLATION | HNPCC | NONPOLYPOSIS COLORECTAL-CANCER | REPAIR GENE HMSH2 | ANTISENSE RNA | TRANSCRIPTION | GENETICS & HEREDITY | MLH1 GERMLINE EPIMUTATIONS | TUMOR | HMLH1 | CARCINOMA | Mosaics | Transcription | Exons | MSH2 protein | Colorectal cancer | mismatch repair | Antisense | Gene deletion | Promoters | epigenetics | Gene silencing | Polyadenylation | Mutation | Endometrium | Tumors | Cancer | Sequence Deletion | Microsatellite Instability | Cell Adhesion Molecules | Genes | Humans | Middle Aged | Open Reading Frames | Families & family life | Molecular Sequence Data | Male | MSH2 protein, human | Inheritance Patterns | DNA Methylation | Netherlands | Base Sequence | China | Adult | Female | Promoter Regions, Genetic | Antigens, Neoplasm | European Continental Ancestry Group | MutS Homolog 2 Protein | Colorectal Neoplasms, Hereditary Nonpolyposis | Minority & ethnic groups | Asian Continental Ancestry Group | Pedigree | Adolescent | Alleles | Family | EPCAM protein, human | Cell Adhesion Molecules - genetics | Promoter Regions, Genetic - genetics | Epithelial Cell Adhesion Molecule | Inheritance Patterns - genetics | Antigens, Neoplasm - genetics | European Continental Ancestry Group - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Exons - genetics | MutS Homolog 2 Protein - genetics | Open Reading Frames - genetics | Sequence Deletion - genetics | Gene mutations | Genetic aspects | Research | Methylation | Health aspects | Risk factors | Index Medicus
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10. Full Text Identification of common variants associated with human hippocampal and intracranial volumes
by Stein, J.L and Medland, S.E and Arias Vasquez, A and Hibar, D.P and Senstad, R.E and Winkler, A.M and Toro, R and Appel, K and Bartecek, R and Bergmann, O and Bernard, M and Brown, A.A and Cannon, D.M and Chakravarty, M.M and Christoforou, A and Domin, M and Grimm, O and Hollinshead, M and Holmes, A.J and Homuth, G and Hottenga, J.J and Langan, C and Lopez, L.M and Hansell, N.K and Hwang, K.S and Kim, S and Laje, G and Lee, P.H and Liu, X and Loth, E and Lourdusamy, A and Mattingsdal, M and Mohnke, S and Maniega, S.M and Nho, K and Nugent, A.C and O'Brien, C and Papmeyer, M and Putz, B and Ramasamy, A and Rasmussen, J and Rijpkema, M.J.P and Risacher, S.L and Roddey, J.C and Rose, E.J and Ryten, M and Shen, L and Sprooten, E and Strengman, E and Teumer, A and Trabzuni, D and Turner, J and Eijk, K. van and Erp, T.G. van and Tol, M.J. van and Wittfeld, K and Wolf, C. de and Woudstra, S and Aleman, A and Alhusaini, S and Almasy, L and Binder, E.B and Brohawn, D.G and Cantor, R.M and Carless, M.A and Corvin, A and Czisch, M and Curran, J.E and Davies, G and Almeida, M.A. de and Delanty, N and Depondt, C and Duggirala, R and Dyer, T.D and Erk, S and Fagerness, J and Fox, P.T and Freimer, N.B and Gill, M and Goring, H.H and Hagler, D.J and Hoehn, D and Holsboer, F and Hoogman, M and Hosten, N and Jahanshad, N and Johnson, M.P and Kasperaviciute, D and Kent Jr., J.W and Kochunov, P and Lancaster, J.L and Lawrie, S.M and Liewald, D.C and Mandl, R.C.W and Matarin, M and Mattheisen, M and Meisenzahl, E and Melle, I and Moses, E.K and Muhleisen, T.W and ... and Cohorts Heart Aging Res Genomic Ep and EPIGEN Consortium and ADNI and Saguenay Youth Study Grp SYS and IMAGEN Consortium and Enhancing Neuro Imaging Genetics M and Alzheimer's Disease Neuroimaging Initiative and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium and Saguenay Youth Study Group and Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium and the Alzheimer's Disease Neuroimaging Initiative (ADNI) and Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium and Saguenay Youth Study Group (SYS) and for the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 5, pp. 552 - 561
Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The... 
AUTOMATED SEGMENTATION | HUMAN HEIGHT | FUNCTIONAL IMPLICATIONS | TEMPORAL-LOBE EPILEPSY | UNIFIED APPROACH | GENOTYPE IMPUTATION | ALZHEIMERS-DISEASE | GENETICS & HEREDITY | BRAIN VOLUME | NA+/H+ EXCHANGER | GENOME-WIDE ASSOCIATION | Haplotypes | Neuroimaging | Brain | Genome-Wide Association Study | Meta-Analysis as Topic | Genealogy | Statistical analysis | Humans | Genomes | Genetic Loci | Genetic Markers | Meta-analysis | Studies | Neurology | Quality control | Genetics | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 12 | Hippocampus | Temporal lobe | Neurodegenerative diseases | Mental disorders | biomarkers | Epilepsy | Schizophrenia | Depression | Cognition | Reviews | Magnetic resonance imaging | Computed tomography | Replication | Alzheimer's disease | Brain - physiopathology | Polymorphism, Single Nucleotide - genetics | Chromosomes, Human, Pair 12 - genetics | Hippocampus - physiopathology | Head | Genetic aspects | Hippocampus (Brain) | Genetic variation | Identification and classification | Body size | Index Medicus | Life Sciences | Neurons and Cognition
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