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1. Full Text Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
by Lupiáñez, Darío G and Kraft, Katerina and Heinrich, Verena and Krawitz, Peter and Brancati, Francesco and Klopocki, Eva and Horn, Denise and Kayserili, Hülya and Opitz, John M and Laxova, Renata and Santos-Simarro, Fernando and Gilbert-Dussardier, Brigitte and Wittler, Lars and Borschiwer, Marina and Haas, Stefan A and Osterwalder, Marco and Franke, Martin and Timmermann, Bernd and Hecht, Jochen and Spielmann, Malte and Visel, Axel and Mundlos, Stefan
Cell, ISSN 0092-8674, 05/2015, Volume 161, Issue 5, pp. 1012 - 1025
Mammalian genomes are organized into megabase-scale topologically associated domains (TADs). We demonstrate that disruption of TADs can rewire long-range... 
LIMB | HUMAN GENOME | SPECIFICITY | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | INDIAN-HEDGEHOG | EXPRESSION | DELETIONS | REGULATORY LANDSCAPE | PRINCIPLES | CELL BIOLOGY | Limb Deformities, Congenital - genetics | Promoter Regions, Genetic | RNA, Untranslated - metabolism | Humans | Gene Expression Regulation | Extremities - anatomy & histology | RNA, Untranslated - genetics | Animals | Enhancer Elements, Genetic | Receptor, EphA4 - genetics | Mice | Extremities - growth & development | Disease Models, Animal | Noncoding DNA | Chromatin | Gene expression | Genes | Genomics | Medical genetics | Index Medicus
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2. Full Text NAD Deficiency, Congenital Malformations, and Niacin Supplementation
by Shi, Hongjun and Enriquez, Annabelle and Rapadas, Melissa and Martin, Ella M.M.A and Wang, Roni and Moreau, Julie and Lim, Chai K and Szot, Justin O and Ip, Eddie and Hughes, James N and Sugimoto, Kotaro and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Maghzal, Ghassan J and Halliday, Jake and Smith, Janine and Colley, Alison and Mark, Paul R and Collins, Felicity and Sillence, David O and Winlaw, David S and Ho, Joshua W.K and Guillemin, Gilles J and Brown, Matthew A and Kikuchi, Kazu and Thomas, Paul Q and Stocker, Roland and Giannoulatou, Eleni and Chapman, Gavin and Duncan, Emma L and Sparrow, Duncan B and Dunwoodie, Sally L
The New England Journal of Medicine, ISSN 0028-4793, 08/2017, Volume 377, Issue 6, pp. 544 - 552
Genetic variants causing loss of function in the synthesis of nicotinamide adenine dinucleotide were shown to cause congenital malformations that comprise the... 
CAUSES SPONDYLOCOSTAL DYSOSTOSIS | KYNURENINE | TRYPTOPHAN | MEDICINE, GENERAL & INTERNAL | DEFECTS | METABOLISM | VARIANTS | HUMANS | MUTATIONS | SIRTUINS | ASSOCIATION | Limb Deformities, Congenital - genetics | Hydrolases - genetics | Humans | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Niacin - therapeutic use | Heart Defects, Congenital - prevention & control | NAD - deficiency | NAD - biosynthesis | Female | Disease Models, Animal | Trachea - abnormalities | Hydrolases - metabolism | Limb Deformities, Congenital - prevention & control | NAD - genetics | Congenital Abnormalities - prevention & control | Esophagus - abnormalities | Sequence Analysis, DNA | Mice, Knockout | Anal Canal - abnormalities | Animals | Kidney - abnormalities | 3-Hydroxyanthranilate 3,4-Dioxygenase - genetics | Mice | Mutation | Dietary Supplements | 3-Hydroxyanthranilate 3,4-Dioxygenase - metabolism | Safety and security measures | Gene mutations | NAD (Coenzyme) | Dosage and administration | Birth defects | Research | Niacin | NADPH | CRISPR | Dioxygenase | Enzymes | Congenital diseases | Congenital defects | Adenine | Tryptophan | Prenatal development | Gestation | Metabolism | Patients | Embryos | NAD | Metabolites | Vitamin B | Genetics | Nicotinamide | Supplementation | Index Medicus | Abridged Index Medicus
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3. Full Text wANNOVAR: annotating genetic variants for personal genomes via the web
by Chang, Xiao and Wang, Kai
Journal of Medical Genetics, ISSN 0022-2593, 07/2012, Volume 49, Issue 7, pp. 433 - 436
BackgroundHigh-throughput DNA sequencing platforms have become widely available. As a result, personal genomes are increasingly being sequenced in research and... 
MUTATIONS | DATABASE | SEQUENCING DATA | IDENTIFICATION | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Humans | Mandibulofacial Dysostosis - pathology | Micrognathism - genetics | Databases, Genetic | Male | Micrognathism - pathology | Exome | Genetic Variation | Mandibulofacial Dysostosis - genetics | Software | Internet | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Abnormalities, Multiple - genetics | Limb Deformities, Congenital - pathology | Technology application | Genetic variation | Practice | Research | Methods | Biologists | Skill learning | Annotations | Disease | Genes | Genomics | Genomes | Bioinformatics | Data bases | Index Medicus
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4. Full Text Mutations in NOTCH1 Cause Adams-Oliver Syndrome
by Stittrich, Anna-Barbara and Lehman, Anna and Bodian, Dale L and Ashworth, Justin and Zong, Zheyuan and Li, Hong and Lam, Patricia and Khromykh, Alina and Iyer, Ramaswamy K and Vockley, Joseph G and Baveja, Rajiv and Silva, Ermelinda Santos and Dixon, Joanne and Leon, Eyby L and Solomon, Benjamin D and Glusman, Gustavo and Niederhuber, John E and Roach, Jared C and Patel, Millan S
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 275 - 284
Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key... 
LIMB DEFECTS | CARDIOVASCULAR MALFORMATIONS | INHIBITION | SPECIFICITY | ABNORMALITIES | COMPLEXES | GENETICS & HEREDITY | APLASIA-CUTIS-CONGENITA | HYPERTENSION | ASSOCIATION | VASCULAR MORPHOGENESIS | Limb Deformities, Congenital - genetics | Humans | Child, Preschool | Infant | Male | Scalp Dermatoses - pathology | Mutation - genetics | Young Adult | Animals | Pedigree | Adolescent | Adult | Ectodermal Dysplasia - pathology | Female | Ectodermal Dysplasia - genetics | Mice | Scalp Dermatoses - genetics | Receptor, Notch1 - genetics | Scalp Dermatoses - congenital | Abnormalities, Multiple - genetics | Limb Deformities, Congenital - pathology | Physiological aspects | Eukaryotes | Care and treatment | Genetic aspects | Adams-Oliver syndrome | Signal transduction | Congenital diseases | Mutation | Rodents | Index Medicus | Report
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5. Full Text Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
by Klopocki, Eva and Hennig, Bianca P and Dathe, Katarina and Koll, Randi and de Ravel, Thomy and Baten, Emiel and Blom, Eveline and Gillerot, Yves and Weigel, Johannes F.W and Krüger, Gabriele and Hiort, Olaf and Seemann, Petra and Mundlos, Stefan
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 434 - 439
Autosomal-dominant brachydactyly type E (BDE) is a congenital limb malformation characterized by small hands and feet predominantly as a result of shortened... 
HORMONE-RELATED PEPTIDE | PROTEIN | MESSENGER-RNA SURVEILLANCE | ENDOCHONDRAL BONE-FORMATION | GENETICS & HEREDITY | PTH/PTHRP RECEPTOR | PARATHYROID-HORMONE | GROWTH-PLATE | INDIAN HEDGEHOG | DIFFERENTIATION | HEREDITARY OSTEODYSTROPHY | Limb Deformities, Congenital - genetics | Sequence Deletion | Growth Disorders - pathology | Humans | Foot Deformities, Congenital - genetics | Male | Mutation, Missense | Genes, Dominant | Female | Parathyroid Hormone-Related Protein - deficiency | Disease Models, Animal | Foot Deformities, Congenital - pathology | Recombinant Proteins - metabolism | Parathyroid Hormone-Related Protein - genetics | Cells, Cultured | Recombinant Proteins - genetics | Codon, Nonsense | Chick Embryo | Mice, Knockout | Point Mutation | Phenotype | Animals | Hand Deformities, Congenital - genetics | Pedigree | Mice | Mutation | Growth Disorders - genetics | Hand Deformities, Congenital - pathology | Limb Deformities, Congenital - pathology | Chromosome deletion | Research | Gene mutations | Parathyroid hormone | Proteins | Cell culture | Bones | Hormones | Anatomy & physiology | Gene expression | Index Medicus | Report
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6. Full Text Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
by Jared C. Roach and Gustavo Glusman and Arian F. A. Smit and Chad D. Huff and Robert Hubley and Paul T. Shannon and Lee Rowen and Krishna P. Pant and Nathan Goodman and Michael Bamshad and Jay Shendure and Radoje Drmanac and Lynn B. Jorde and Leroy Hood and David J . Galas
Science, ISSN 0036-8075, 4/2010, Volume 328, Issue 5978, pp. 636 - 639
We analyzed the whole-genome sequences of a family of four, consisting of two siblings and their parents. Family-based sequencing allowed us to delineate... 
Genetic inheritance | Inheritance patterns | Genes | REPORTS | Parents | Genomes | Children | Genetic mutation | Sequencing | Chromosomes | Siblings | NUCLEOTIDE | MIDDLE AWASH | RECOMBINATION | RATES | PLEISTOCENE | MULTIDISCIPLINARY SCIENCES | HUMANS | ETHIOPIA | Limb Deformities, Congenital - genetics | Crossing Over, Genetic | Genetic Association Studies | Humans | Axonemal Dyneins - genetics | Nuclear Family | Male | Genes, Recessive | Sequence Analysis, DNA | Syndrome | Inheritance Patterns | Mandibulofacial Dysostosis - genetics | Algorithms | Genes, Dominant | Pedigree | Alleles | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Abnormalities, Multiple - genetics | Ciliary Motility Disorders - genetics | Heredity | Genetic aspects | Research | Nucleotide sequencing | Brothers and sisters | Identification and classification | Methods | Multiple birth | Families & family life | Genetic disorders | Genomics | Polymorphism | Index Medicus | crossover | haplotype | inheritance state | DNAH5 | inheritance analysis | de novo mutations | haploidentical block | rare genetic disease | HMM | DHODH | whole genome sequencing | haploidentity | KIAA0556 | inheritance vector | recombination hotspot | Miller syndrome | POADS | recessive models | CES1
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7. Full Text Formin1 disruption confers oligodactylism and alters Bmp signaling
by Zhou, Fen and Leder, Philip and Zuniga, Aimée and Dettenhofer, Markus
Human Molecular Genetics, ISSN 0964-6906, 7/2009, Volume 18, Issue 13, pp. 2472 - 2482
Proper limb development requires concerted communication between cells within the developing limb bud. Several molecules have been identified which contribute... 
DEFORMITY ALLELES | APICAL ECTODERMAL RIDGE | GREMLIN EXPRESSION | SONIC HEDGEHOG | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | GLOBAL CONTROL REGION | MOUSE LIMB | FMN GENE | NORMAL LIMB DEVELOPMENT | FEEDBACK LOOP | VERTEBRATE LIMB | Limb Deformities, Congenital - genetics | Up-Regulation | Bone Morphogenetic Protein Receptors - genetics | Humans | Fetal Proteins - metabolism | Limb Deformities, Congenital - embryology | Extremities - embryology | Intercellular Signaling Peptides and Proteins - metabolism | Bone Morphogenetic Proteins - metabolism | Gene Expression Regulation, Developmental | Microfilament Proteins - metabolism | Nuclear Proteins - genetics | Bone Morphogenetic Proteins - genetics | Microfilament Proteins - genetics | Disease Models, Animal | Signal Transduction | Mice, Inbred C57BL | Gene Silencing | Intercellular Signaling Peptides and Proteins - genetics | Bone Morphogenetic Protein Receptors - metabolism | Limb Deformities, Congenital - metabolism | Nuclear Proteins - metabolism | Mice, Knockout | Animals | Fetal Proteins - genetics | Mice | Index Medicus
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8. Full Text Ca(v)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
by Splawski, I and Timothy, KW and Sharpe, LM and Decher, N and Kumar, P and Bloise, R and Napolitano, C and Schwartz, PJ and Joseph, RM and Condouris, K and Tager-Flusberg, H and Priori, SG and Sanguinetti, MC and Keating, MT
CELL, ISSN 0092-8674, 10/2004, Volume 119, Issue 1, pp. 19 - 31
Ca(v)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present... 
FUNCTIONAL EXPRESSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN GENETIC-DISEASE | SUDDEN CARDIAC DEATH | CA2+ CHANNEL | MOLECULAR DETERMINANTS | LONG-QT SYNDROME | LANGE-NIELSEN-SYNDROME | PERVASIVE DEVELOPMENTAL DISORDERS | STATIONARY NIGHT BLINDNESS | POTASSIUM CHANNEL | CELL BIOLOGY | Limb Deformities, Congenital - genetics | Action Potentials - genetics | Autistic Disorder - physiopathology | Calcium - metabolism | Humans | Genetic Diseases, Inborn - genetics | Male | Cell Membrane - genetics | Arrhythmias, Cardiac - physiopathology | Mutation, Missense - genetics | Oocytes | Brain - metabolism | Genetic Diseases, Inborn - complications | Female | Cell Membrane - metabolism | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Arrhythmias, Cardiac - genetics | Infant, Newborn | Brain Chemistry - genetics | CHO Cells | Autistic Disorder - genetics | Heart - physiopathology | Cricetinae | Brain - physiopathology | Xenopus laevis | Abnormalities, Multiple - physiopathology | Syndrome | Animals | Calcium Channels, L-Type - genetics | Pedigree | Myocytes, Cardiac - metabolism | Limb Deformities, Congenital - complications | Arrhythmias, Cardiac - complications | Genetic Diseases, Inborn - physiopathology | Mice | Calcium Channels, L-Type - metabolism | Autistic Disorder - complications | Calcium Signaling - genetics | Index Medicus
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9. Full Text Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
by Bernier, Francois P and Caluseriu, Oana and Ng, Sarah and Schwartzentruber, Jeremy and Buckingham, Kati J and Innes, A. Micheil and Jabs, Ethylin Wang and Innis, Jeffrey W and Schuette, Jane L and Gorski, Jerome L and Byers, Peter H and Andelfinger, Gregor and Siu, Victoria and Lauzon, Julie and Fernandez, Bridget A and McMillin, Margaret and Scott, Richard H and Racher, Hilary and Majewski, Jacek and Nickerson, Deborah A and Shendure, Jay and Bamshad, Michael J and Parboosingh, Jillian S and FORGE Canada Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Nager syndrome, first described more than 60 years ago, is the archetype of a class of disorders called the acrofacial dysostoses, which are characterized by... 
ACROFACIAL DYSOSTOSIS SYNDROME | GENE | BMPR-IA | GENETICS & HEREDITY | MUTATIONS | SEQUENCING DATA | INHERITANCE | SPLICING FACTOR | DOMINANT RETINITIS-PIGMENTOSA | Limb Deformities, Congenital - genetics | RNA-Binding Proteins - genetics | Reproducibility of Results | Spliceosomes - genetics | Humans | Mandibulofacial Dysostosis - physiopathology | RNA Splicing Factors | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | RNA Precursors - genetics | Haploinsufficiency | Exome | Young Adult | Mandibulofacial Dysostosis - genetics | Adult | Female | RNA Precursors - metabolism | Mutation | Child | RNA-Binding Proteins - metabolism | Cohort Studies | Gene mutations | Causes of | Genetic aspects | Craniofacial abnormalities | Research | Nucleotide sequencing | DNA sequencing | Genomics | Messenger RNA | Medical genetics | Genotype & phenotype | Deformities | Collaboration | Genes | Face | Index Medicus | Dysostosis | genomics | haploinsufficiency | Spliceosomes | Limb malformations | Report
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10. Full Text A probabilistic disease-gene finder for personal genomes
by Yandell, Mark and Huff, Chad and Hu, Hao and Singleton, Marc and Moore, Barry and Xing, Jinchuan and Jorde, Lynn B and Reese, Martin G
Genome Research, ISSN 1088-9051, 09/2011, Volume 21, Issue 9, pp. 1529 - 1542
VAAST (the Variant Annotation, Analysis & Search Tool) is a probabilistic search tool for identifying damaged genes and their disease-causing variants in... 
EXCESS | RARE VARIANTS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMMON DISEASES | GENETICS & HEREDITY | COHORT | WIDE ASSOCIATION | PROTEIN FUNCTION | PREDICTION | Limb Deformities, Congenital - genetics | Multifactorial Inheritance - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Diarrhea - congenital | Genes | Humans | Micrognathism - genetics | Genes, Recessive | Metabolism, Inborn Errors - genetics | RNA, Untranslated - genetics | Mandibulofacial Dysostosis - genetics | Diarrhea - genetics | Polymorphism, Single Nucleotide | Software | Genome, Human | Abnormalities, Multiple - genetics | Amino Acid Substitution | Usage | Research | Nucleotide sequencing | Human genome | Index Medicus | Resource
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11. Full Text Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
by Friedli, Marc and Nikolaev, Sergey and Lyle, Robert and Arcangeli, Mélanie and Duboule, Denis and Spitz, François and Antonarakis, Stylianos E
Mammalian Genome, ISSN 0938-8990, 4/2008, Volume 19, Issue 4, pp. 272 - 278
SHFM3 is a limb malformation characterized by the absence of central digits. It has been shown that this condition is associated with tandem duplications of... 
Life Sciences | Anatomy | Zoology | Cell Biology | ACTIVATION | SEQUENCES | DACTYLIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MECHANISMS | DELETION | FAMILY | DISRUPTION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENETICS & HEREDITY | GENE-EXPRESSION | 10Q24 | Gene Duplication | Limb Deformities, Congenital - genetics | Mice - genetics | Retroelements | Humans | Molecular Sequence Data | Phylogeny | Sequence Analysis, DNA | Animals | Base Sequence | Alleles | Mutagenesis, Insertional | F-Box Proteins - genetics | Disease Models, Animal | Index Medicus
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12. Full Text Genetic analysis of the roles of BMP2, BMP4, and BMP7 in limb patterning and skeletogenesis
by Bandyopadhyay, Amitabha and Tsuji, Kunikazu and Cox, Karen and Harfe, Brian D and Rosen, Vicki and Tabin, Clifford J
PLoS Genetics, ISSN 1553-7390, 12/2006, Volume 2, Issue 12, pp. 2116 - 2130
Bone morphogenetic protein (BMP) family members, including BMP2, BMP4, and BMP7, are expressed throughout limb development. BMPs have been implicated in early... 
OSTEOBLAST DIFFERENTIATION | INTERDIGITAL APOPTOSIS | APICAL ECTODERMAL RIDGE | IN-VIVO | GENETICS & HEREDITY | BONE MORPHOGENETIC PROTEINS | DEVELOPING CHICK LIMB | SKELETAL DEVELOPMENT | SONIC-HEDGEHOG | VERTEBRATE LIMB | FEEDBACK LOOP | Limb Deformities, Congenital - genetics | Bone Morphogenetic Proteins - physiology | Chondrogenesis - genetics | Limb Deformities, Congenital - physiopathology | Male | Transforming Growth Factor beta - deficiency | Extremities - embryology | Bone Morphogenetic Proteins - deficiency | Female | Bone Morphogenetic Proteins - genetics | Osteogenesis - genetics | Bone Morphogenetic Protein 4 | Bone Morphogenetic Protein 2 | Transforming Growth Factor beta - physiology | Mice, Transgenic | Signal Transduction - genetics | Down-Regulation - genetics | Homeodomain Proteins - genetics | Body Patterning - physiology | Mice, Knockout | Animals | Transforming Growth Factor beta - genetics | Mice | Extremities - growth & development | Body Patterning - genetics | Bone Morphogenetic Protein 7 | Comparative analysis | Bone morphogenetic proteins | Genetic aspects | Index Medicus | Vertebrates | BMP | Genetics and Genomics | Mus (Mouse) | Developmental Biology | Mammals | Proteins | Medical research | Experiments | Embryos
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