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1. Full Text The advantages of SNP arrays over CGH arrays
by Keren, Boris
Molecular cytogenetics, ISSN 1755-8166, 2014, Volume 7, Issue Suppl 1 Proceedings of the International Conference on Human, pp. I31 - I31
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2. Protean proteases: At the cutting edge of lung diseases
by Taggart, Clifford and Mall, Marcus A and Lalmanach, Gilles and Cataldo, Didier and Ludwig, Andreas and Janciauskiene, Sabina and Heath, Nicole and Meiners, Silke and Overall, Christopher M and Schultz, Carsten and Turk, Boris and Borensztajn, Keren S
The European respiratory journal, ISSN 0903-1936, 02/2017, Volume 49, Issue 2, pp. 1501200 - 1501200
Life Sciences & Biomedicine | Respiratory System | Science & Technology | Lung Diseases - immunology | Proteolysis - drug effects | Animals | Humans | Mice | Matrix Metalloproteinases - metabolism | Lung Diseases - drug therapy | Protease Inhibitors - therapeutic use | Lung - immunology | Lung - enzymology | Lung Diseases - enzymology | Serine proteinase | Protease inhibitors | Proteases | Proteolysis | Serine | Lung diseases
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3. Full Text Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
by Hengel, Holger and Bosso-Lefèvre, C. lia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A. A. P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Anews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A. H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 12/2020, Volume 11, Issue 1, pp. 595 - 595
Chemistry(all) | Biochemistry, Genetics and Molecular Biology(all) | Physics and Astronomy(all) | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Organoids - pathology | Oxidoreductases - genetics | Humans | Child, Preschool | Infant | Male | Zebrafish | Genes, Recessive | Oxidoreductases - chemistry | Syndrome | Animals | Pedigree | Adolescent | Alleles | Protein Domains | Epilepsy - genetics | Female | Kinetics | Child | Loss of Function Mutation - genetics | Dehydrogenases | Oligomerization | Proteoglycans | Stability | Oxidoreductase | Epilepsy | Glucose | Dehydrogenase | Delay | Mutants | UDP-glucose 6-dehydrogenase | Glucose dehydrogenase | Hypotonia | Organoids | Enzymatic activity | Glycolipids | Encephalopathy | Fibroblasts | Neural stem cells | Extracellular matrix | Mutation | Seizures | Index Medicus
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4. Full Text De novo mutations in HCN1 cause early infantile epileptic encephalopathy
by Nava, Caroline and Dalle, Carine and Rastetter, Agnès and Striano, Pasquale and De Kovel, Carolien G F and Nabbout, Rima and Cancès, Claude and Ville, Dorothée and Brilstra, Eva H and Gobbi, Giuseppe and Raffo, Emmanuel and Bouteiller, Delphine and Marie, Yannick and Trouillard, Oriane and Robbiano, Angela and Keren, Boris and Agher, Dahbia and Roze, Emmanuel and Lesage, Suzanne and Nicolas, Aude and Brice, Alexis and Baulac, Michel and Vogt, Cornelia and El Hajj, Nady and Schneider, Eberhard and Suls, Arvid and Weckhuysen, Sarah and Gormley, Padhraig and Lehesjoki, Anna-Elina and De Jonghe, Peter and Helbig, Ingo and Baulac, Stéphanie and Zara, Federico and Koeleman, Bobby P C and Haaf, Thomas and Leguern, Eric and Depienne, Christel and EuroEPINOMICS RES Consortiumm and EuroEPINOMICS RES Consortium
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 640 - 645
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Cricetinae | Cricetulus | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Aicardi Syndrome - genetics | Mutation, Missense | Spasms, Infantile - genetics | Sequence Analysis, DNA | Potassium Channels - genetics | Sequence Homology, Amino Acid | Point Mutation | Patch-Clamp Techniques | Animals | DNA Mutational Analysis | Pedigree | Female | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels - genetics | CHO Cells | Cohort Studies | Gene mutations | Genetic susceptibility | Exome sequencing | Ohtahara syndrome | Genetic research | Genetic aspects | Research | Identification and classification | Methods | Studies | Disability | Autism | Epilepsy | Parkinsons disease | Amino acids | Mutation | Index Medicus | Pediatrics | Neurons and Cognition | Neurobiology | Aicardi Syndrome | Life Sciences | Genetics | Potassium Channels | Human health and pathology | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels | Spasms, Infantile | Human genetics
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5. Full Text GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
by Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O and Helbig, Katherine L and Tang, Sha and Willing, Marcia C and Tinkle, Brad T and Adams, Darius J and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M and Mefford, Heather C and Myers, Candace T and Muir, Alison M and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E and Brilstra, Eva and van Haelst, Mieke M and van der Smagt, Jasper J and Bok, Levinus A and Møller, Rikke S and Jensen, Uffe B and Millichap, John J and Berg, Anne T and Goldberg, Ethan M and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R and Zackai, Elaine H and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J and Lawson, John A and Roscioli, Tony and Jansen, Floor E and Ranza, Emmanuelle and Korff, Christian M and Lehesjoki, Anna-Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen-Hann and Tarnopolsky, Mark A and Brady, Lauren I and Wolff, Markus and Dondit, Lutz and Pedro, Helio F and Parisotto, Sarah E and Jones, Kelly L and Patel, Anup D and Franz, David N and Vanzo, Rena and Marco, Elysa and Ranells, Judith D and Di Donato, Nataliya and Dobyns, William B and Laube, Bodo and Traynelis, Stephen F and Lemke, Johannes R
Journal of medical genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 460 - 470
Epileptic encephalopathy | Precision medicine | Channelopathy | Genetics(clinical) | Clustering of missense variants | Genetics | Pathogenic GRIN2B mutations | Journal Article | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neuroimaging | Receptors, N-Methyl-D-Aspartate - antagonists & inhibitors | Humans | Brain Diseases - genetics | Receptors, N-Methyl-D-Aspartate - metabolism | Molecular Targeted Therapy | Mutation - genetics | Receptors, N-Methyl-D-Aspartate - genetics | Magnetic Resonance Imaging | Brain Diseases - drug therapy | Phenotype | Heterozygote | Memantine - therapeutic use | Complications and side effects | Channelopathies | Care and treatment | Research | Encephalopathy | Movement disorders | Intellectual disabilities | Epilepsy | Cortex | Schizophrenia | Polymicrogyria | Neurodevelopmental disorders | Visual perception | Consortia | Autism | Memantine | Ligands | Mutation | Index Medicus
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6. Full Text Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies
by Saliba, Joseph and Saint-Martin, Cécile and Di Stefano, Antonio and Lenglet, Gaëlle and Marty, Caroline and Keren, Boris and Pasquier, Florence and Della Valle, Véronique and Secardin, Lise and Leroy, Gwendoline and Mahfoudhi, Emna and Grosjean, Sarah and Droin, Nathalie and Diop, M'boyba and Dessen, Philippe and Charrier, Sabine and Palazzo, Alberta and Merlevede, Jane and Meniane, Jea-ɤme and Delaunay-Darivon, Christine and Fuseau, Pascal and Isnard, Françoise and Casadevall, Nicole and Solary, Eric and Debili, Najet and A Bernard, Olivier and Raslova, Hana and Najman, Albert and Vainchenker, William and Bellanné-Chantelot, Christine and Plo, Isabelle
Nature genetics, ISSN 1061-4036, 09/2015, Volume 47, Issue 10, pp. 1131 - 1140
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Duplication | Autophagy-Related Proteins | Genetic Predisposition to Disease | Humans | Vesicular Transport Proteins - genetics | Repressor Proteins - genetics | Infant | Male | Germ Cells | Young Adult | Phenotype | Pedigree | Adolescent | Adult | Chromosomes, Human, Pair 14 | Female | Aged | Myelodysplastic Syndromes - genetics | Induced Pluripotent Stem Cells - cytology | Child | Leukemia, Myeloid, Acute - genetics | Genetic susceptibility | Familial diseases | Genetic research | Development and progression | Genetic aspects | Research | Myeloproliferative disorders | Index Medicus
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7. Full Text Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum
by Legrand, Anne and Cornez, Laurence and Samkari, Wafa and Mazzella, Jean-Michael and Venisse, Annabelle and Boccio, Valérie and Auribault, Karine and Keren, Boris and Benistan, Karelle and Germain, Dominique P and Frank, Michael and Jeunemaitre, Xavier and Albuisson, Juliette
Genetics in medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 909 - 917
Genotype-phenotype correlation | Pseudoxanthoma elasticum | Phenodex score | ABCC6 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | France - epidemiology | Genetic Association Studies | Humans | Middle Aged | Child, Preschool | Genotype | Infant | Male | Young Adult | Phenotype | Adolescent | Pseudoxanthoma Elasticum - genetics | Aged, 80 and over | Adult | Female | Multidrug Resistance-Associated Proteins - genetics | Aged | Mutation | Pseudoxanthoma Elasticum - epidemiology | Child | Infant, Newborn | Cohort Studies | Genotype & phenotype | Index Medicus | Life Sciences | Human health and pathology | Quantitative Methods | Biochemistry, Molecular Biology | Genomics | Neurons and Cognition | Neurobiology | Sensory Organs
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8. Full Text Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
by Pizzo, Lucilla and Jensen, Matthew and Polyak, Anew and Rosenfeld, Jill A and Mannik, Katrin and Krishnan, Arjun and McCready, Elizabeth and Pichon, Olivier and Le Caignec, Ceic and Van Dijck, Anke and Pope, Kate and Voorhoeve, Els and Yoon, Jieun and Stankiewicz, Paweł and Cheung, Sau Wai and Pazuchanics, Damian and Huber, Emily and Kumar, Vijay and Kember, Rachel L and Mari, Francesca and Curró, Aurora and Castiglia, Lucia and Galesi, Ornella and Avola, Emanuela and Mattina, Teresa and Fichera, Marco and Mandarà, Luana and Vincent, Marie and Nizon, Mathilde and Mercier, Sana and Bénéteau, Claire and Blesson, Sophie and Martin-Coignard, Dominique and Mosca-Boion, Anne Laure and Caberg, Jean Hubert and Bucan, Maja and Zeesman, Susan and Nowaczyk, Małgorzata J.M and Lefebvre, Mathilde and Faivre, Laurence and Callier, Patrick and Skinner, Cindy and Keren, Boris and Perrine, Charles and Prontera, Paolo and Marle, Nathalie and Renieri, Alessana and Reymond, Alexane and Kooy, R. Frank and Isidor, Bertrand and Schwartz, Charles and Romano, Corrado and Sistermans, Erik and Amor, David J and Anieux, Joris and Girirajan, Santhosh
Genetics in medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 816 - 825
CNV | phenotypic variability | 16p11.2 deletion | Genetics(clinical) | autism | modifier | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Cytoskeletal Proteins | Autistic Disorder - physiopathology | Gene Expression Regulation - genetics | Humans | Methyltransferases - genetics | Parents | Male | DNA Copy Number Variations - genetics | Nerve Tissue Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | Proteins - genetics | Phenotype | Pedigree | Cognition - physiology | Female | Transcription Factors | Genetic Background | Genetic Carrier Screening | Chromosomes, Human, Pair 16 - genetics | Sequence Deletion - genetics | Siblings | Families & family life | Genes | Family medical history | Index Medicus | Life Sciences | Genetics | Human genetics
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9. Full Text Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
by Stessman, Holly A.F and Willemsen, Marjolein H and Fenckova, Michaela and Penn, Osnat and Hoischen, Alexander and Xiong, Bo and Wang, Tianyun and Hoekzema, Kendra and Vives, Laura and Vogel, Ida and Brunner, Han G and van der Burgt, Ineke and Ockeloen, Charlotte W and Schuurs-Hoeijmakers, Janneke H and Klein Wassink-Ruiter, Jolien S and Stumpel, Connie and Stevens, Servi J.C and Vles, Hans S and Marcelis, Carlo M and van Bokhoven, Hans and Cantagrel, Vincent and Colleaux, Laurence and Nicouleau, Michael and Lyonnet, Stanislas and Bernier, Raphael A and Gerdts, Jennifer and Coe, Bradley P and Romano, Corrado and Alberti, Antonino and Grillo, Lucia and Scuderi, Carmela and Nordenskjöld, Magnus and Kvarnung, Malin and Guo, Hui and Xia, Kun and Piton, Amélie and Gerard, Bénédicte and Genevieve, David and Delobel, Bruno and Lehalle, Daphne and Perrin, Laurence and Prieur, Fabienne and Thevenon, Julien and Gecz, Jozef and Shaw, Marie and Pfundt, Rolph and Keren, Boris and Jacquette, Aurelia and Schenck, Annette and Eichler, Evan E and Kleefstra, Tjitske
American journal of human genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 541 - 552
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Humans | Child, Preschool | Infant | Male | Drosophila Proteins - metabolism | Gene Knockdown Techniques | Intellectual Disability - genetics | Exome |