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43 results on '"Wollstein, Andreas"'

1. Global skin colour prediction from DNA

Author

Walsh, Susan, Chaitanya, Lakshmi, Breslin, Krystal, Muralidharan, Charanya, Bronikowska, Agnieszka, Pospiech, Ewelina, Koller, Julia, Kovatsi, Leda, Wollstein, Andreas, Branicki, Wojciech, Liu, Fan, and Kayser, Manfred

Published
2017
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3. Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

Author

Liu, Fan, Visser, Mijke, Duffy, David L., Hysi, Pirro G., Jacobs, Leonie C., Lao, Oscar, Zhong, Kaiyin, Walsh, Susan, Chaitanya, Lakshmi, Wollstein, Andreas, Zhu, Gu, Montgomery, Grant W., Henders, Anjali K., Mangino, Massimo, Glass, Daniel, Bataille, Veronique, Sturm, Richard A., Rivadeneira, Fernando, Hofman, Albert, van IJcken, Wilfred F. J., Uitterlinden, André G., Palstra, Robert-Jan T. S., Spector, Timothy D., Martin, Nicholas G., Nijsten, Tamar E. C., and Kayser, Manfred

Published
2015
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11. Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases and forensic implications

Author

Ballantyne, Kaye N., Goedbloed, Miriam, Fang, Rixun, Schaap, Onno, Lao, Oscar, Ying Choi, Wollstein, Andreas, Duijn, Kate van, Vermeulen, Mark, Brauer, Silke, Decorte, Ronny, Poetsch, Micaela, Wurmb-Schwark, Nicole von, Knijff, Peter de, Labuda, Damian, Vezina, Helene, Knoblauch, Hans, Lessig, Rudiger, Roewer, Lutz, Ploski, Rafal, Dobosz, Tadeusz, Henke, Lotte, Henke, Jurgen, Furtado, Manohar R., and Kayser, Manfred

Subjects
Forensic genetics -- Research, Gene mutations -- Analysis, Population genetics -- Research, Satellite DNA -- Research, Y chromosome -- Research, Biological sciences
Abstract

A large number of 186 Y-STR markers in nearly 2000 DNA-confirmed father-son pairs, covering an overall number of 352,999 meiotic transfers were analyzed to determine the key requirement for application of Y-chromosomal microsatellites (Y-STRs) which are widely used to infer population histories. The findings from the study might provide important insight into Y-chromosomal applications in forensic biology and identify future male individual from previous male lineage differentiation.

Published
2010

13. A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Author

Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Małgorzata, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Özkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, and Wollnik, Bernd

Published
2013
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20. Population genetic evidence for cold adaptation in European Drosophila melanogaster populations

Author

Bozicevic, Vedran, Hutter, Stephan, Stephan, Wolfgang, and Wollstein, Andreas

Subjects
local adaptation, polygenic traits
Abstract

We studiedDrosophila melanogasterpopulations from Europe (the Netherlands and France) and Africa (Rwanda and Zambia) to uncover genetic evidence of adaptation to cold. We present here four lines of evidence for genes involved in cold adaptation from four perspectives: (1) the frequency of SNPs at genes previously known to be associated with chill-coma recovery time (CCRT), startle reflex (SR), and resistance to starvation stress (RSS) vary along environmental gradients and therefore among populations; (2) SNPs of genes that correlate significantly with latitude and altitude in African and European populations overlap with SNPs that correlate with a latitudinal cline from North America; (3) at the genome-wide level, the top candidate genes are enriched in gene ontology (GO) terms that are related to cold tolerance; (4) GO enriched terms from North American clinal genes overlap significantly with those from Africa and Europe. Each SNP was tested in 10 independent runs ofBayenv2, using the median Bayes factors to ascertain candidate genes. None of the candidate genes were found close to the breakpoints of cosmopolitan inversions, and only four candidate genes were linked to QTLs related to CCRT. To overcome the limitation that we used only four populations to test correlations with environmental gradients, we performed simulations to estimate the power of our approach for detecting selection. Based on our results we propose a novel network of genes that is involved in cold adaptation.

Published
2015

21. Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour

Author

Wollstein, Andreas, primary, Walsh, Susan, additional, Liu, Fan, additional, Chakravarthy, Usha, additional, Rahu, Mati, additional, Seland, Johan H., additional, Soubrane, Gisèle, additional, Tomazzoli, Laura, additional, Topouzis, Fotis, additional, Vingerling, Johannes R., additional, Vioque, Jesus, additional, Böhringer, Stefan, additional, Fletcher, Astrid E., additional, and Kayser, Manfred, additional

Published
2017
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23. The MC1R Gene and Youthful Looks

Author

Liu, Fan, primary, Hamer, Merel A., additional, Deelen, Joris, additional, Lall, Japal S., additional, Jacobs, Leonie, additional, van Heemst, Diana, additional, Murray, Peter G., additional, Wollstein, Andreas, additional, de Craen, Anton J.M., additional, Uh, Hae-Won, additional, Zeng, Changqing, additional, Hofman, Albert, additional, Uitterlinden, André G., additional, Houwing-Duistermaat, Jeanine J., additional, Pardo, Luba M., additional, Beekman, Marian, additional, Slagboom, P. Eline, additional, Nijsten, Tamar, additional, Kayser, Manfred, additional, and Gunn, David A., additional

Published
2016
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24. An Automatic 3D Facial Landmarking Algorithm Using 2D Gabor Wavelets

Author

de Jong, Markus A., primary, Wollstein, Andreas, additional, Ruff, Clifford, additional, Dunaway, David, additional, Hysi, Pirro, additional, Spector, Tim, additional, Liu, Fan, additional, Niessen, Wiro, additional, Koudstaal, Maarten J., additional, Kayser, Manfred, additional, Wolvius, Eppo B., additional, and Bohringer, Stefan, additional

Published
2016
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31. Reconstructing the Population History of European Romani from Genome-wide Data

Author

Mendizabal, Isabel, primary, Lao, Oscar, additional, Marigorta, Urko M., additional, Wollstein, Andreas, additional, Gusmão, Leonor, additional, Ferak, Vladimir, additional, Ioana, Mihai, additional, Jordanova, Albena, additional, Kaneva, Radka, additional, Kouvatsi, Anastasia, additional, Kučinskas, Vaidutis, additional, Makukh, Halyna, additional, Metspalu, Andres, additional, Netea, Mihai G., additional, de Pablo, Rosario, additional, Pamjav, Horolma, additional, Radojkovic, Dragica, additional, Rolleston, Sarah J.H., additional, Sertic, Jadranka, additional, Macek, Milan, additional, Comas, David, additional, and Kayser, Manfred, additional

Published
2012
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33. A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

Author

Liu, Fan, primary, van der Lijn, Fedde, additional, Schurmann, Claudia, additional, Zhu, Gu, additional, Chakravarty, M. Mallar, additional, Hysi, Pirro G., additional, Wollstein, Andreas, additional, Lao, Oscar, additional, de Bruijne, Marleen, additional, Ikram, M. Arfan, additional, van der Lugt, Aad, additional, Rivadeneira, Fernando, additional, Uitterlinden, André G., additional, Hofman, Albert, additional, Niessen, Wiro J., additional, Homuth, Georg, additional, de Zubicaray, Greig, additional, McMahon, Katie L., additional, Thompson, Paul M., additional, Daboul, Amro, additional, Puls, Ralf, additional, Hegenscheid, Katrin, additional, Bevan, Liisa, additional, Pausova, Zdenka, additional, Medland, Sarah E., additional, Montgomery, Grant W., additional, Wright, Margaret J., additional, Wicking, Carol, additional, Boehringer, Stefan, additional, Spector, Timothy D., additional, Paus, Tomáš, additional, Martin, Nicholas G., additional, Biffar, Reiner, additional, and Kayser, Manfred, additional

Published
2012
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34. Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania

Author

Reich, David, primary, Patterson, Nick, additional, Kircher, Martin, additional, Delfin, Frederick, additional, Nandineni, Madhusudan R., additional, Pugach, Irina, additional, Ko, Albert Min-Shan, additional, Ko, Ying-Chin, additional, Jinam, Timothy A., additional, Phipps, Maude E., additional, Saitou, Naruya, additional, Wollstein, Andreas, additional, Kayser, Manfred, additional, Pääbo, Svante, additional, and Stoneking, Mark, additional

Published
2011
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37. Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci

Author

Liu, Fan, primary, Wollstein, Andreas, additional, Hysi, Pirro G., additional, Ankra-Badu, Georgina A., additional, Spector, Timothy D., additional, Park, Daniel, additional, Zhu, Gu, additional, Larsson, Mats, additional, Duffy, David L., additional, Montgomery, Grant W., additional, Mackey, David A., additional, Walsh, Susan, additional, Lao, Oscar, additional, Hofman, Albert, additional, Rivadeneira, Fernando, additional, Vingerling, Johannes R., additional, Uitterlinden, André G., additional, Martin, Nicholas G., additional, Hammond, Christopher J., additional, and Kayser, Manfred, additional

Published
2010
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38. A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans.

Author

Fan Liu, van der Lijn, Fedde, Schurmann, Claudia, Gu Zhu, Chakravarty, M. Mallar, Hysi, Pirro G., Wollstein, Andreas, Lao, Oscar, de Bruijne, Marleen, Ikram, M. Arfan, van der Lugt, Aad, Rivadeneira, Fernando, Uitterlinden, André G., Hofman, Albert, Niessen, Wiro J., Homuth, Georg, de Zubicaray, Greig, Mcmahon, Katie L., Thompson, Paul M., and Daboul, Amro

Subjects
GENOMES, HUMAN genetic variation, GENES, DNA, FACE, MAGNETIC resonance imaging
Abstract

Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and twodimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes--PRDM16, PAX3, TP63, C5orf50, and COL17A1--in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications. [ABSTRACT FROM AUTHOR]

Published
2012
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39. Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci.

Author

Fan Liu, Wollstein, Andreas, Hysi, Pirro G., Ankra-Badu, Georgina A., Spector, Timothy D., Park, Daniel, Gu Zhu, Larsson, Mats, Duffy, David L., Montgomery, Grant W., Mackey, David A., Walsh, Susan, Lao, Oscar, Hofman, Albert, Rivadeneira, Fernando, Vingerling, Johannes R., Uitterlinden, André G., Martin, Nicholas G., Hammond, Christopher J., and Kayser, Manfred

Subjects
*GENETICS, *GENE expression, *IRIS (Eye), *GENOMES
Abstract

Previous studies have successfully identified genetic variants in several genes associated with human iris (eye) color; however, they all used simplified categorical trait information. Here, we quantified continuous eye color variation into hue and saturation values using high-resolution digital full-eye photographs and conducted a genome-wide association study on 5,951 Dutch Europeans from the Rotterdam Study. Three new regions, 1q42.3, 17q25.3, and 21q22.13, were highlighted meeting the criterion for genome-wide statistically significant association. The latter two loci were replicated in 2,261 individuals from the UK and in 1,282 from Australia. The LYST gene at 1q42.3 and the DSCR9 gene at 21q22.13 serve as promising functional candidates. A model for predicting quantitative eye colors explained over 50% of trait variance in the Rotterdam Study. Over all our data exemplify that fine phenotyping is a useful strategy for finding genes involved in human complex traits. [ABSTRACT FROM AUTHOR]

Published
2010
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40. Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpF lSTR® Yfiler® PCR amplification kit.

Author

Goedbloed, Miriam, Vermeulen, Mark, Fang, Rixun N., Lembring, Maria, Wollstein, Andreas, Ballantyne, Kaye, Lao, Oscar, Brauer, Silke, Krüger, Carmen, Roewer, Lutz, Lessig, Rüdiger, Ploski, Rafal, Dobosz, Tadeusz, Henke, Lotte, Henke, Jürgen, Furtado, Manohar R., and Kayser, Manfred

Subjects
Y chromosome, GENETIC mutation, GENETIC polymorphisms, POLYMERASE chain reaction, MICROSATELLITE repeats
Abstract

The Y-chromosomal short tandem repeat (Y-STR) polymorphisms included in the AmpF lSTR® Yfiler® polymerase chain reaction amplification kit have become widely used for forensic and evolutionary applications where a reliable knowledge on mutation properties is necessary for correct data interpretation. Therefore, we investigated the 17 Yfiler Y-STRs in 1,730–1,764 DNA-confirmed father–son pairs per locus and found 84 sequence-confirmed mutations among the 29,792 meiotic transfers covered. Of the 84 mutations, 83 (98.8%) were single-repeat changes and one (1.2%) was a double-repeat change (ratio, 1:0.01), as well as 43 (51.2%) were repeat gains and 41 (48.8%) repeat losses (ratio, 1:0.95). Medians from Bayesian estimation of locus-specific mutation rates ranged from 0.0003 for DYS448 to 0.0074 for DYS458, with a median rate across all 17 Y-STRs of 0.0025. The mean age (at the time of son’s birth) of fathers with mutations was with 34.40 (±11.63) years higher than that of fathers without ones at 30.32 (±10.22) years, a difference that is highly statistically significant ( p < 0.001). A Poisson-based modeling revealed that the Y-STR mutation rate increased with increasing father’s age on a statistically significant level ( α = 0.0294, 2.5% quantile = 0.0001). From combining our data with those previously published, considering all together 135,212 meiotic events and 331 mutations, we conclude for the Yfiler Y-STRs that (1) none had a mutation rate of >1%, 12 had mutation rates of >0.1% and four of <0.1%, (2) single-repeat changes were strongly favored over multiple-repeat ones for all loci but 1 and (3) considerable variation existed among loci in the ratio of repeat gains versus losses. Our finding of three Y-STR mutations in one father–son pair (and two pairs with two mutations each) has consequences for determining the threshold of allelic differences to conclude exclusion constellations in future applications of Y-STRs in paternity testing and pedigree analyses. [ABSTRACT FROM AUTHOR]

Published
2009
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42. Dating the age of admixture via wavelet transform analysis of genome-wide data

Author

Pugach, Irina, Matveyev, Rostislav, Wollstein, Andreas, Kayser, Manfred, Stoneking, Mark, and Genetic Identification

Subjects
Male, Genome, Human, Population Dynamics, Wavelet Analysis, Method, Black People, Genomics, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Polynesia, White People, Phylogeography, Genetics, Population, Fiji, Humans, Female, Algorithms, Genome-Wide Association Study
Abstract

We describe a PCA-based genome scan approach to analyze genome-wide admixture structure, and introduce wavelet transform analysis as a method for estimating the time of admixture. We test the wavelet transform method with simulations and apply it to genome-wide SNP data from eight admixed human populations. The wavelet transform method offers better resolution than existing methods for dating admixture, and can be applied to either SNP or sequence data from humans or other species.

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43. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Author

Janine Altmüller, Stefan Böhringer, G. Eda Utine, Krystyna H. Chrzanowska, Peter Nürnberg, Maria Teresa Dotti, Marcel Martin, Holger Thiele, Johanna Christina Czeschik, Esra Kılıç, Gunnar Houge, Almuth Caliebe, Sigrid Tinschert, Koray Boduroğlu, Yun Li, Francesca Cristofoli, Filippo Beleggia, Fanny Morice-Picard, Christiane Zweier, Michèle Mathieu Dramard, Joris Vermeesch, Małgorzata Krajewska-Walasek, Beate Albrecht, Hermann-Josef Lüdecke, Ozgur Cogulu, Yasemin Alanay, Annabella Marozza, Hülya Kayserili, Timm O. Goecke, Koenraad Devriendt, Bernd Wollnik, Catheline Vilain, Pelin Ozlem Simsek-Kiper, Esther Pohl, Anita Rauch, Barbara Mikat, Michael Zeschnigk, Nursel Elcioglu, R. Vivarelli, Joussef Hayek, Alma Kuechler, Stanislas Lyonnet, Esther Milz, Dagmar Wieczorek, Sven Rahmann, Encarnación Guillén-Navarro, Blanca Gener, Ludger Klein-Hitpass, Nina Bögershausen, Gilles Morin, Ferda Ozkinay, Alessandra Renieri, Vanesa López-González, Sabine Steiner-Haldenstätt, Andreas Wollstein, Francesca Mari, İç Hastalıkları, Acibadem University Dspace, Wieczorek, Dagmar, Boegershausen, Nina, Beleggia, Filippo, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin, Kayserili, Hulya, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd, Ege Üniversitesi, and University of Zurich

Subjects
Male, ARID1A, 10039 Institute of Medical Genetics, Chromosomal Proteins, Non-Histone, PHF6, Medizin, Hypotrichosis, Missense mutation, Exome, FORSSMAN-LEHMANN-SYNDROME, INTELLECTUAL DISABILITY, MENTAL-RETARDATION, MUTATIONS, SWI/SNF, COMPLEX, COMPONENTS, ARID1B, SMARCB1, Child, Genetics (clinical), Sequence Deletion, Genetics, Genetics & Heredity, biology, High-Throughput Nucleotide Sequencing, General Medicine, SMARCB1 Protein, Phenotype, Chromatin, DNA-Binding Proteins, Histone, Child, Preschool, Female, Hand Deformities, Congenital, Adult, 2716 Genetics (clinical), Biochemistry & Molecular Biology, Adolescent, Foot Deformities, Congenital, Micrognathism, Mutation, Missense, 610 Medicine & health, Chromatin remodeling, 1311 Genetics, Intellectual Disability, 1312 Molecular Biology, Nucleosome, Humans, Abnormalities, Multiple, Molecular Biology, Infant, Newborn, Facies, Infant, Chromatin Assembly and Disassembly, Repressor Proteins, Face, Karyotyping, biology.protein, 570 Life sciences, Carrier Proteins, Neck, Transcription Factors
Abstract

WOS: 000327800400004, PubMed ID: 23906836, Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation ( NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategies., German Federal Ministry of Education and Research (BMBF)Federal Ministry of Education & Research (BMBF) [01GM1211A, 01GM1211B]; TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [112S398]; ERARE-ANR CraniRareFrench National Research Agency (ANR); German Federal Ministry of Education and ResearchFederal Ministry of Education & Research (BMBF) [01GS08167]; DFGGerman Research Foundation (DFG) [BO 1955/2-3, WU 314/6-2]; Volkswagen FoundationVolkswagen [86042]; Telethon ItalyFondazione Telethon [GTB12001], This work was part of the CRANIRARE-2 Network funded by the German Federal Ministry of Education and Research (BMBF) (01GM1211A to B. W., 01GM1211B to D. W.), the TUBITAK (112S398 to H. K.) and ERARE-ANR CraniRare to S. L. This work was also funded by a grant (MRNET) from the German Federal Ministry of Education and Research (01GS08167 to D. W.), by DFG grants (BO 1955/2-3 and WU 314/6-2 to S. B. and D. W.) and by the Volkswagen Foundation (ref 86042 to A. W.). The biobank "Cell lines and DNA bank of Rett syndrome, X linked Mental Retardation and other genetic diseases", member of the Telethon Network of Genetic Biobanks (project no. GTB12001), funded by Telethon Italy, provided us with specimens.

Published
2017

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