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1. Full Text Reanalysis of Clinical Exome Sequencing Data
by Scaglia, Fernando and Vetrini, Francesco and Streff, Haley and Escobar, Luis and Liu, Pengfei and Wu, Nan and Uhles, Crescenda L and Bernstein, Jonathan A and Koenig, Mary K and Eble, Tanya and Erwin, Deanna and Sutton, V. Reid and Vernon, Hilary and Gibson, James B and Gripp, Karen and Eroglu, Yasemen and Kleppe, Soledad and Natowicz, Marvin and Mancias, Pedro and Zackai, Elaine H and Schaaf, Christian P and Lewis, Andrea M and Benke, Paul J and He, Weimin and Beaudet, Arthur L and Meng, Linyan and Minor, LaKeesha and Normand, Elizabeth A and Muzny, Donna and Cheng, Hanyin and Xia, Fan and Gibbs, Richard A and Dong, Jie and Song, Xiaofei and Posey, Jennifer E and Gijavanekar, Charul and Lalani, Seema and Ghazi, Andrew and Rosenfeld, Jill and Shaw, Chad and Eng, Christine M and Magoulas, Pilar L and Lupski, James R and Braxton, Alicia and Ward, Patricia and Yang, Yaping and Dai, Hongzheng and Yuan, Bo and Bi, Weimin and Xiao, Rui and Wang, Xia and Chiang, Theodore
The New England Journal of Medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed... 
MEDICINE, GENERAL & INTERNAL | Genetic counseling | Laboratories | Patients | Genomics
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2. 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
Of over 7000 patients referred to a diagnostic laboratory, 28% had diagnoses based on DNA sequencing, 5% of whom had two or more diagnoses. Their phenotypes... 
EXOME | MEDICINE, GENERAL & INTERNAL | ONTOLOGY | MUTATIONS | INHERITANCE | RETINITIS-PIGMENTOSA | UTILITY | 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
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3. Full Text Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
by Normand, Elizabeth A and Braxton, Alicia and Nassef, Salma and Ward, Patricia A and Vetrini, Francesco and He, Weimin and Patel, Vipulkumar and Qu, Chunjing and Westerfield, Lauren E and Stover, Samantha and Dharmadhikari, Avinash V and Muzny, Donna M and Gibbs, Richard A and Dai, Hongzheng and Meng, Linyan and Wang, Xia and Xiao, Rui and Liu, Pengfei and Bi, Weimin and Xia, Fan and Walkiewicz, Magdalena and Van Den Veyver, Ignatia B and Eng, Christine M and Yang, Yaping
Genome Medicine, ISSN 1756-994X, 09/2018, Volume 10, Issue 1, pp. 74 - 14
Background: Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has... 
Prenatal | Fetal structural abnormalities | Single-gene disorder | Mendelian disease | Exome sequencing | CHROMOSOMAL MICROARRAY | ANOMALIES | GUIDELINES | AMERICAN-COLLEGE | PHENOTYPE | STANDARDS | MEDICAL GENETICS | RECOMMENDATIONS | GENETICS & HEREDITY | MUTATIONS | PRENATAL-DIAGNOSIS | Genetic Diseases, Inborn - diagnostic imaging | Fetus - diagnostic imaging | Phenotype | Ultrasonography, Prenatal | Humans | Genetic Diseases, Inborn - genetics | Fetus - pathology | Inheritance Patterns - genetics | Family | Whole Exome Sequencing | Usage | Genetic disorders | Diagnosis | Research | Ultrasonic waves | Pediatrics | Congenital diseases | Laboratories | Fetuses | Tissue culture | Pregnancy | Ultrasonic imaging | Prenatal diagnosis | Genetic counseling | Etiology | Autopsy | Genetics | Ultrasound
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4. Full Text Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
by Zhang, Jing and Gambin, Tomasz and Yuan, Bo and Szafranski, Przemyslaw and Rosenfeld, Jill A and Balwi, Mohammed Al and Alswaid, Abdulrahman and Al-Gazali, Lihadh and Shamsi, Aisha M. Al and Komara, Makanko and Ali, Bassam R and Roeder, Elizabeth and McAuley, Laura and Roy, Daniel S and Manchester, David K and Magoulas, Pilar and King, Lauren E and Hannig, Vickie and Bonneau, Dominique and Denommé-Pichon, Anne-Sophie and Charif, Majida and Besnard, Thomas and Bézieau, Stéphane and Cogné, Benjamin and Andrieux, Joris and Zhu, Wenmiao and He, Weimin and Vetrini, Francesco and Ward, Patricia A and Cheung, Sau Wai and Bi, Weimin and Eng, Christine M and Lupski, James R and Yang, Yaping and Patel, Ankita and Lalani, Seema R and Xia, Fan and Stankiewicz, Paweł
Human Genetics, ISSN 0340-6717, 04/2017, Volume 136, Issue 4, pp. 377 - 386
Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X... 
RISK | APP-BP1 | ARRAY CGH | GENETICS & HEREDITY | Autism Spectrum Disorder - genetics | Language Development Disorders - genetics | Humans | Autism Spectrum Disorder - complications | Child, Preschool | Infant | Intellectual Disability - complications | Male | DNA Copy Number Variations | Haploinsufficiency | Intellectual Disability - genetics | Language Development Disorders - complications | Carrier Proteins - genetics | Adolescent | Facies | Female | Ubiquitin-Protein Ligases - genetics | Child | Cohort Studies | Ubiquitin | Autism | Medical colleges | DNA microarrays | Ligases | Analysis | Genes | Life Sciences | Human health and pathology | copy-number variants | chromosomal microarray | whole exome sequencing
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5. Full Text Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
by Zhang, Jing and Gambin, Tomasz and Yuan, Bo and Szafranski, Przemyslaw and Rosenfeld, Jill A and Balwi, Mohammed Al and Alswaid, Abdulrahman and Al-Gazali, Lihadh and Shamsi, Aisha M. Al and Komara, Makanko and Ali, Bassam R and Roeder, Elizabeth and McAuley, Laura and Roy, Daniel S and Manchester, David K and Magoulas, Pilar and King, Lauren E and Hannig, Vickie and Bonneau, Dominique and Denommé-Pichon, Anne-Sophie and Charif, Majida and Besnard, Thomas and Bézieau, Stéphane and Cogné, Benjamin and Andrieux, Joris and Zhu, Wenmiao and He, Weimin and Vetrini, Francesco and Ward, Patricia A and Cheung, Sau Wai and Bi, Weimin and Eng, Christine M and Lupski, James R and Yang, Yaping and Patel, Ankita and Lalani, Seema R and Xia, Fan and Stankiewicz, Paweł
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 1009 - 1011
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Ubiquitin | Medical colleges | Autism | Ligases | Speech | Intellectual disabilities | Ubiquitin-protein ligase | Haploinsufficiency
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6. Full Text Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
by Dharmadhikari, Avinash V and Ghosh, Rajarshi and Yuan, Bo and Liu, Pengfei and Dai, Hongzheng and Al Masri, Sami and Scull, Jennifer and Posey, Jennifer E and Jiang, Allen H and He, Weimin and Vetrini, Francesco and Braxton, Alicia A and Ward, Patricia and Chiang, Theodore and Qu, Chunjing and Gu, Shen and Shaw, Chad A and Smith, Janice L and Lalani, Seema and Stankiewicz, Pawel and Cheung, Sau-Wai and Bacino, Carlos A and Patel, Ankita and Breman, Amy M and Wang, Xia and Meng, Linyan and Xiao, Rui and Xia, Fan and Muzny, Donna and Gibbs, Richard A and Beaudet, Arthur L and Eng, Christine M and Lupski, James R and Yang, Yaping and Bi, Weimin
Genome Medicine, ISSN 1756-994X, 05/2019, Volume 11, Issue 1, pp. 30 - 17
BackgroundExome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However,... 
Dual molecular diagnoses | Uniparental disomy | Exome sequencing | Structural variation | Exonic CNV in AR disorders | ROH | Microarray | PROTEIN | CNV | FEATURES | GENOMIC DISORDERS | GENETICS & HEREDITY | IMMUNODEFICIENCY | Heart | Medical research | Usage | Genetic variation | Abnormalities | Medicine, Experimental | Genetic aspects | Research | Pediatric research | Pediatrics | Phenotypes | Congenital diseases | Disease | Copy number | Genomics | Genomes | Single-nucleotide polymorphism | Hereditary diseases | Algorithms | Quality control | Diagnosis | Chromosomes
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7. Full Text Aneuploidy as a mechanism for stress-induced liver adaptation
by Duncan, Andrew W and Hanlon Newell, Amy E and Bi, Weimin and Finegold, Milton J and Olson, Susan B and Beaudet, Arthur L and Grompe, Markus
Journal of Clinical Investigation, ISSN 0021-9738, 09/2012, Volume 122, Issue 9, pp. 3307 - 3315
Over hall of the mature hepatocytes in mice and humans are aneuploid and yet retain full ability to undergo mitosis. This observation has raised the question... 
MEDICINE, RESEARCH & EXPERIMENTAL | MURINE MODEL | HEPATOCELLULAR-CARCINOMA | VIVO | TYROSINEMIA TYPE-I | HEREDITARY TYROSINEMIA | GENE-THERAPY | MICE | MOUSE HEPATOCYTES | PLOIDY | CLONAL ANALYSIS | Adaptation, Physiological | Cell Proliferation | Chromosomes, Mammalian - genetics | Mice, Inbred C57BL | Cells, Cultured | Stress, Physiological | Aneuploidy | Male | Mice, Transgenic | Mice, 129 Strain | DNA Copy Number Variations | Animals | Comparative Genomic Hybridization | Liver - physiology | Female | Liver - cytology | Mice | Hepatocytes - physiology | Homogentisate 1,2-Dioxygenase - genetics | Karyotype | Care and treatment | Genetic aspects | Stress (Physiology) | Diagnosis | Liver cells | Index Medicus | Abridged Index Medicus
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8. Full Text Structures and Receptor Binding of Hemagglutinins from Human-Infecting H7N9 Influenza Viruses
by Yi Shi and Wei Zhang and Fei Wang and Jianxun Qi and Ying Wu and Hao Song and Feng Gao and Yuhai Bi and Yanfang Zhang and Zheng Fan and Chengfeng Qin and Honglei Sun and Jinhua Liu and Joel Haywood and Wenjun Liu and Weimin Gong and Dayan Wang and Yuelong Shu and Yu Wang and Jinghua Yan and George F. Gao
Science, ISSN 0036-8075, 10/2013, Volume 342, Issue 6155, pp. 243 - 247
An avian-origin human-infecting influenza (H7N9) virus was recently identified in China. We have evaluated the viral hemagglutinin (HA) receptor-binding... 
REPORTS | A VIRUS | TRANSMISSION | ORIGIN | MULTIDISCIPLINARY SCIENCES | COMPLEXES | CONFORMATIONAL-ANALYSIS | OUTBREAK | Glycine - genetics | Hemagglutinin Glycoproteins, Influenza Virus - chemistry | Glycine - metabolism | Humans | Receptors, Cell Surface - metabolism | Birds | Crystallography, X-Ray | Hemagglutinin Glycoproteins, Influenza Virus - metabolism | Animals | Influenza A virus - metabolism | Glycine - chemistry | Influenza in Birds - virology | Influenza, Human - virology | Protein Conformation | Receptors, Cell Surface - chemistry | Receptors, Cell Surface - genetics | Avian flu | Virology | Human | Binding | Receptors | Influenza | Amino acids | Viruses | Affinity | Hydroxyapatite
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9. Full Text Intercropping Competition between Apple Trees and Crops in Agroforestry Systems on the Loess Plateau of China
by Gao, Lubo and Xu, Huasen and Bi, Huaxing and Xi, Weimin and Bao, Biao and Wang, Xiaoyan and Bi, Chao and Chang, Yifang
PLoS ONE, ISSN 1932-6203, 07/2013, Volume 8, Issue 7, p. e70739
Agroforestry has been widely practiced in the Loess Plateau region of China because of its prominent effects in reducing soil and water losses, improving... 
GROUND INTERACTIONS | USA | YIELD | PERFORMANCE | MULTIDISCIPLINARY SCIENCES | PRODUCTIVITY | GROWTH | ALLEY CROPPING SYSTEM | SOIL-WATER | MAIZE | PHOTOSYNTHESIS | Crops, Agricultural - physiology | Arachis - physiology | Humans | Agriculture - methods | Biomass | Malus - physiology | Plant Roots - physiology | Trees - physiology | China | Light | Photosynthesis - physiology | Soil - chemistry | Soybeans - physiology | Water - physiology | Loess | Cropping systems | Soil moisture | Phytochemistry | Agricultural industry | Soybean | Photosynthesis | Competition | Soybeans | Soil erosion | Radiation | Soil nutrients | Soil improvement | Interspecific | Fruit trees | Agricultural production | Canopies | Agronomy | Intercropping | Root barriers | Soil water | Pruning | Nutrients | Crop yield | Trees | Fertilization | Crops | Plantations | Agricultural practices | Land use | Agroforestry
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10. Full Text MicroRNA-29c functions as a tumor suppressor by targeting VEGFA in lung adenocarcinoma
by Liu, Lipin and Bi, Nan and Wu, Lihong and Ding, Xiao and Men, Yu and Zhou, Wei and Li, Lin and Zhang, Weimin and Shi, Susheng and Song, Yongmei and Wang, Luhua
Molecular cancer, ISSN 1476-4598, 02/2017, Volume 16, Issue 1, p. 50
Background: Lung adenocarcinoma (LAD) is considered to be a highly aggressive disease with heterogeneous prognosis and the molecular mechanisms underlying... 
MiR-29c | Lung adenocarcinoma | VEGFA | METASTASIS | PROGNOSTIC-FACTORS | CANCER CELLS | INITIATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | FAMILY | INVASION | BIOGENESIS | ONCOLOGY | EXPRESSION | ENDOTHELIAL GROWTH-FACTOR | Lung Neoplasms - genetics | A549 Cells | Adenocarcinoma - pathology | Cell Proliferation | Prognosis | Adenocarcinoma of Lung | Oligonucleotide Array Sequence Analysis - methods | Down-Regulation | Humans | Lung Neoplasms - metabolism | Gene Expression Regulation, Neoplastic | Lung Neoplasms - pathology | Male | Vascular Endothelial Growth Factor A - metabolism | Vascular Endothelial Growth Factor A - genetics | Adenocarcinoma - metabolism | Survival Analysis | Cell Line, Tumor | Female | Adenocarcinoma - genetics | MicroRNAs - genetics | Neoplasm Staging | Cell Movement
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11. Full Text Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
by Meng, Linyan and Pammi, Mohan and Saronwala, Anirudh and Magoulas, Pilar and Ghazi, Andrew Ray and Vetrini, Francesco and Zhang, Jing and He, Weimin and Dharmadhikari, Avinash V and Qu, Chunjing and Ward, Patricia and Braxton, Alicia and Narayanan, Swetha and Ge, Xiaoyan and Tokita, Mari J and Santiago-Sim, Teresa and Dai, Hongzheng and Chiang, Theodore and Smith, Hadley and Azamian, Mahshid S and Robak, Laurie and Bostwick, Bret L and Schaaf, Christian P and Potocki, Lorraine and Scaglia, Fernando and Bacino, Carlos A and Hanchard, Neil A and Wangler, Michael F and Scott, Daryl and Brown, Chester and Hu, Jianhong and Belmont, John W and Burrage, Lindsay C and Graham, Brett H and Sutton, Vernon Reid and Craigen, William J and Plon, Sharon E and Lupski, James R and Beaudet, Arthur L and Gibbs, Richard A and Muzny, Donna M and Miller, Marcus J and Wang, Xia and Leduc, Magalie S and Xiao, Rui and Liu, Pengfei and Shaw, Chad and Walkiewicz, Magdalena and Bi, Weimin and Xia, Fan and Lee, Brendan and Eng, Christine M and Yang, Yaping and Lalani, Seema R
JAMA Pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, pp. e173438 - e173438
IMPORTANCE: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene... 
STATEMENT | MORTALITY | DIAGNOSIS | RECOMMENDATIONS | PEDIATRICS | WHOLE | CLINICAL EXOME | Critical Care - methods | Infant Care - methods | Humans | Genetic Diseases, Inborn - genetics | Genetic Counseling - methods | Infant | Intensive Care Units, Pediatric | Genetic Diseases, Inborn - therapy | Whole Exome Sequencing - methods | Exome | Texas | Adult | Disease Management | Retrospective Studies | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Length of Stay - statistics & numerical data
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12. Full Text Novel EED mutation in patient with Weaver syndrome
by Cooney, Erin and Bi, Weimin and Schlesinger, Alan E and Vinson, Sherry and Potocki, Lorraine
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 541 - 545
Weaver syndrome is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and... 
exome sequencing | Weaver syndrome | overgrowth | EED | embryonic ectoderm development | GENETICS & HEREDITY | AUTOSOMAL-DOMINANT INHERITANCE | EZH2 | Polycomb Repressive Complex 2 - genetics | Genetic Association Studies | Humans | Infant | Hand Deformities, Congenital - diagnosis | Sequence Analysis, DNA | Phenotype | Comparative Genomic Hybridization | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Congenital Hypothyroidism - diagnosis | Abnormalities, Multiple - diagnosis | Congenital Hypothyroidism - genetics | Facies | Physical Examination | Female | Mutation | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Histone methyltransferase
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13. Full Text Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans
by Takeda, Andrew J and Zhang, Yu and Dornan, Gillian L and Siempelkamp, Braden D and Jenkins, Meredith L and Matthews, Helen F and McElwee, Joshua J and Bi, Weimin and Seeborg, Filiz O and Su, Helen C and Burke, John E and Lucas, Carrie L
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 10/2017, Volume 140, Issue 4, pp. 1152 - 1156.e10
Supporting an intramolecular activation mechanism, we found no difference in association of ectopically expressed WT, E81K, or G124D p110δ with endogenous p85α... 
Class I Phosphatidylinositol 3-Kinases - genetics | Humans | Adolescent | Immunologic Deficiency Syndromes - genetics | Adult | Female | Male | Mutation | Child | Pneumonia | Senescence | Endometrial cancer | Lymphocytes | Leukemia | Ear diseases | Amino acids | Kinases | Patients | Age
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14. Full Text Application and Optimization of Kalman Filter for Baseband Signal Processing of GPS Receivers
by He, Yanpin and Li, Weimin and Bi, Bo
MATEC Web of Conferences, ISSN 2261-236X, 09/2016, Volume 75, p. 3007
High sensitivity tracking in GPS receiver is required in many weak signal circumstances. The key of improving sensitivity is the optimization of the loop... 
Signal processing | Linear filters | Tracking | Sensitivity analysis | Kalman filters | Optimization
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