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1. Full Text Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
by Harel, Tamar and Yesil, Gozde and Bayram, Yavuz and Coban-Akdemir, Zeynep and Charng, Wu-Lin and Karaca, Ender and Al Asmari, Ali and Eldomery, Mohammad K and Hunter, Jill V and Jhangiani, Shalini N and Rosenfeld, Jill A and Pehlivan, Davut and El-Hattab, Ayman W and Saleh, Mohammed A and LeDuc, Charles A and Muzny, Donna and Boerwinkle, Eric and Gibbs, Richard A and Chung, Wendy K and Yang, Yaping and Belmont, John W and Lupski, James R and Baylor-Hopkins Center for Mendelian Genomics and Baylor-Hopkins Ctr Mendelian Genom
American journal of human genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 562 - 570
endoplasmic reticulum (ER)-membrane complex | intracellular transport | Whole-exome sequencing | EMC1 | inter-organellar communication | mitochondrial membrane | neurodegeneration | cerebellar atrophy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Endoplasmic Reticulum-Associated Degradation | Scoliosis - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Developmental Disabilities - genetics | Muscle Hypotonia - diagnosis | Genetic Variation | Atrophy - genetics | Female | Child | Developmental Disabilities - diagnosis | Amino Acid Sequence | Muscle Hypotonia - genetics | Genetic Association Studies | Protein Folding | Cerebellum - pathology | Proteins - genetics | Magnetic Resonance Imaging | Proteins - metabolism | Pedigree | Adolescent | Alleles | Atrophy - diagnosis | Heterozygote | Mutation | Scoliosis - diagnosis | Allelomorphism | Atrophy | Genetic aspects | Genetic variation | Scoliosis | Health aspects | Brain diseases | Genotype & phenotype | Mitochondria | Nuclear magnetic resonance--NMR | Protein folding | Index Medicus | Report
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2. Full Text A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
by Jacquemont, Sébastien and Coe, Bradley P and Hersch, Micha and Duyzend, Michael H and Krumm, Niklas and Bergmann, Sven and Beckmann, Jacques S and Rosenfeld, Jill A and Eichler, Evan E
American journal of human genetics, ISSN 0002-9297, 03/2014, Volume 94, Issue 3, pp. 415 - 425
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Markov Chains | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Databases, Genetic | Male | Developmental Disabilities - genetics | DNA Copy Number Variations | Young Adult | DNA Mutational Analysis | Gene Deletion | Chromosomes, Artificial, Bacterial | Adult | Female | Odds Ratio | Genotype | Cognition Disorders - genetics | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Sex Factors | Aged | Polymorphism, Single Nucleotide | Mutation | Cohort Studies | Psychological aspects | Child development deviations | Genetic aspects | Gene mutations | Health aspects | Developmental disabilities | Autism | Genotype & phenotype | Biological variation | Chromosomes | Index Medicus
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3. Full Text Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
by Posey, Jennifer E and Harel, Tamar and Liu, Pengfei and Rosenfeld, Jill A and James, Regis A and Coban Akdemir, Zeynep H and Walkiewicz, Magdalena and Bi, Weimin and Xiao, Rui and Ding, Yan and Xia, Fan and Beaudet, Arthur L and Muzny, Donna M and Gibbs, Richard A and Boerwinkle, Eric and Eng, Christine M and Sutton, V. Reid and Shaw, Chad A and Plon, Sharon E and Yang, Yaping and Lupski, James R
The New England journal of medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 21 - 31
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Genetic Variation | Phenotype | Humans | Genetic Diseases, Inborn - genetics | High-Throughput Nucleotide Sequencing | Retrospective Studies | Genotyping Techniques | Sequence Analysis, DNA - methods | Research | Genomics | Exome sequencing | Genotype & phenotype | Hypotheses | Phenotypes | Laboratories | Data processing | Genomes | Diagnosis | Patients | Genotypes | Index Medicus | Abridged Index Medicus
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4. Full Text Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
by Harel, Tamar and Yoon, Wan Hee and Garone, Caterina and Gu, Shen and Coban-Akdemir, Zeynep and Eldomery, Mohammad K and Posey, Jennifer E and Jhangiani, Shalini N and Rosenfeld, Jill A and Cho, Megan T and Fox, Stephanie and Withers, Marjorie and Brooks, Stephanie M and Chiang, Theodore and Duraine, Lita and Erdin, Serkan and Yuan, Bo and Shao, Yunru and Moussallem, Elie and Lamperti, Costanza and Donati, Maria A and Smith, Joshua D and McLaughlin, Heather M and Eng, Christine M and Walkiewicz, Magdalena and Xia, Fan and Pippucci, Tommaso and Magini, Pamela and Seri, Marco and Zeviani, Massimo and Hirano, Michio and Hunter, Jill V and Srour, Myriam and Zanigni, Stefano and Lewis, Richard Alan and Muzny, Donna M and Lotze, Timothy E and Boerwinkle, Eric and Gibbs, Richard A and Hickey, Scott E and Graham, Brett H and Yang, Yaping and Buhas, Daniela and Martin, Donna M and Potocki, Lorraine and Graziano, Claudio and Bellen, Hugo J and Lupski, James R and Baylor-Hopkins Center for Mendelian Genomics and University of Washington Center for Mendelian Genomics and Univ Washington Ctr Mendelian
American journal of human genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 831 - 845
de novo variant | optic atrophy | neuropathy | CNV | cardiomyopathy | whole-exome sequencing | ATAD3A | dominant negative | mitochondrial dynamics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurons - pathology | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Mitochondrial Proteins - genetics | Nervous System Diseases - genetics | Drosophila melanogaster - genetics | Muscles - pathology | Young Adult | Cardiomyopathies - genetics | Fibroblasts | Adult | Female | Nervous System Diseases - metabolism | Child | Infant, Newborn | Nervous System Diseases - pathology | Optic Atrophy - genetics | ATPases Associated with Diverse Cellular Activities | Muscle Hypotonia - genetics | Membrane Proteins - genetics | DNA Copy Number Variations - genetics | Mitochondria - metabolism | Mitochondria - pathology | Syndrome | Homozygote | Phenotype | Animals | Axons - pathology | Alleles | Polymorphism, Single Nucleotide - genetics | Adenosine Triphosphatases - genetics | Mutation | Allelomorphism | Nervous system diseases | Genetic aspects | Genetic variation | Health aspects | Adenosine triphosphatase | Proteins | Genotype & phenotype | Genetics | Mitochondria | Membranes | Neurological disorders | Index Medicus
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5. Full Text SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
by Dauber, Andrew and Golzio, Christelle and Guenot, Cécile and Jodelka, Francine M and Kibaek, Maria and Kjaergaard, Susanne and Leheup, Bruno and Martinet, Danielle and Nowaczyk, Malgorzata J.M and Rosenfeld, Jill A and Zeesman, Susan and Zunich, Janice and Beckmann, Jacques S and Hirschhorn, Joel N and Hastings, Michelle L and Jacquemont, Sebastien and Katsanis, Nicholas
American journal of human genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 798 - 811
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosomes, Human, Pair 8 - genetics | RNA-Binding Proteins - genetics | Microcephaly - genetics | Membrane Proteins - genetics | Humans | RNA Splicing Factors | Child, Preschool | Repressor Proteins - genetics | Male | Chromosome Mapping | Developmental Disabilities - genetics | Zebrafish - genetics | DNA Copy Number Variations | Gene Knockdown Techniques | Intellectual Disability - genetics | Phenotype | Animals | Gene Deletion | Tumor Suppressor Proteins - genetics | Adolescent | Alleles | Female | HeLa Cells | Child | Research | Gene expression | Genetic variation | Genotype & phenotype | Genetic disorders | Mutation | Genes | Index Medicus | Life Sciences
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6. Full Text Tyrosine phosphorylation of histone H2A by CK2 regulates transcriptional elongation
by Basnet, Harihar and Basnet, Harihar and Su, Xue B and Tan, Yuliang and Meisenhelder, Jill and Merkurjev, Daria and Ohgi, Kenneth A and Hunter, Tony and Pillus, Lorraine and Rosenfeld, Michael G
Nature (London), ISSN 0028-0836, 12/2014, Volume 516, Issue 7530, pp. 267 - 271
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Amino Acid Sequence | Cell Line | Phosphorylation | Histones - chemistry | Saccharomyces cerevisiae - genetics | Humans | Molecular Sequence Data | Transcription Elongation, Genetic | Saccharomyces cerevisiae - metabolism | Tyrosine - metabolism | Histones - genetics | Conserved Sequence | Histones - metabolism | Casein Kinase II - metabolism | Tyrosine - chemistry | Ubiquitination - genetics | Tyrosine | Physiological aspects | Histones | Genetic research | Research | Genetic transcription | Proteins | Studies | Genotype & phenotype | Yeast | Genetic engineering | Mutation | RNA polymerase | Kinases | Mammals | Index Medicus | Casein Kinase 2 (CK2) | transcriptional elongation | tyrosine phosphorylation | SAGA complex | histone H2A | yeast
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7. Full Text A copy number variation morbidity map of developmental delay
by Cooper, Gregory M and Coe, Bradley P and Girirajan, Santhosh and Rosenfeld, Jill A and Vu, Tiffany H and Baker, Carl and Williams, Charles and Stalker, Heather and Hamid, Rizwan and Hannig, Vickie and Abdel-Hamid, Hoda and Bader, Patricia and McCracken, Elizabeth and Niyazov, Dmitriy and Leppig, Kathleen and Thiese, Heidi and Hummel, Marybeth and Alexander, Nora and Gorski, Jerome and Kussmann, Jennifer and Shashi, Vandana and Johnson, Krys and Rehder, Catherine and Ballif, Blake C and Shaffer, Lisa G and Eichler, Evan E
Nature genetics, ISSN 1061-4036, 09/2011, Volume 43, Issue 9, pp. 838 - 846
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Genetic Variation | Congenital Abnormalities - genetics | Humans | Child, Preschool | Adult | Chromosome Mapping | Developmental Disabilities - genetics | Gene Dosage | Genetic variation | Birth defects | Genetic aspects | Diagnosis | Research | Gene expression | Morbidity | Disability | Medical research | Autism | Pediatrics | Disease | Womens health | Data collection | Genomes | Mutation | Manuscripts | Index Medicus
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8. Full Text De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
by Weiss, Karin and Terhal, Paulien A and Cohen, Lior and Bruccoleri, Michael and Irving, Melita and Martinez, Ariel F and Rosenfeld, Jill A and Machol, Keren and Yang, Yaping and Liu, Pengfei and Walkiewicz, Magdalena and Beuten, Joke and Gomez-Ospina, Natalia and Haude, Katrina and Fong, Chin-To and Enns, Gregory M and Bernstein, Jonathan A and Fan, Judith and Gotway, Garrett and Ghorbani, Mohammad and van Gassen, Koen and Monroe, Glen R and van Haaften, Gijs and Basel-Vanagaite, Lina and Yang, Xiang-Jiao and Campeau, Philippe M and Muenke, M