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1. Full Text mTORC1 Signaling is a Critical Regulator of Postnatal Tendon Development
by Lim, Joohyun and Munivez, Elda and Jiang, Ming-Ming and Song, I-Wen and Gannon, Francis and Keene, Douglas R and Schweitzer, Ronen and Lee, Brendan H and Joeng, Kyu Sang
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 17175 - 12
Tendons transmit contractile forces between musculoskeletal tissues. Whereas the biomechanical properties of tendons have been studied extensively, the... 
ENTHESIS | FIBROCARTILAGE CELLS | PROGENITORS | DIFFERENTIAL EXPRESSION | SCLERAXIS | REGENERATION | MULTIDISCIPLINARY SCIENCES | BONE ATTACHMENT | COLLAGEN FIBRILS | NERVE INJURY | RAT MODEL | Fibroblast growth factor | Contractility | Mechanical properties | Gene expression | TSC1 protein | Ribonucleic acid--RNA | Vascularization | Tendons | Molecular modelling | Collagen | Rodents | Bone morphogenetic proteins | Extracellular matrix
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2. Full Text Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature
by Smith, Hadley Stevens and Swint, J. Michael and Lalani, Seema R and Yamal, Jose-Miguel and de Oliveira Otto, Marcia C and Castellanos, Stephan and Taylor, Amy and Lee, Brendan H and Russell, Heidi V
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 3 - 16
Purpose: Availability of clinical genomic sequencing (CGS) has generated questions about the value of genome and exome sequencing as a diagnostic tool.... 
genome sequencing | exome sequencing | Medical genomics | Review | Clinical implementation | SEVERE COMBINED IMMUNODEFICIENCY | SHWACHMAN-DIAMOND SYNDROME | PHENOTYPIC SPECTRUM | INFANTILE EPILEPTIC ENCEPHALOPATHY | INTELLECTUAL DISABILITY | INFLAMMATORY-BOWEL-DISEASE | MOLECULAR DIAGNOSIS | GENETICS & HEREDITY | COMPOUND HETEROZYGOUS MUTATIONS | HEALTH ECONOMIC-EVALUATION | RETROSPECTIVE ANALYSIS | Pediatrics - trends | Exome - genetics | Whole Exome Sequencing - economics | Cost-Benefit Analysis | Humans | Genetic Diseases, Inborn - genetics | Whole Genome Sequencing - economics | Genetic Diseases, Inborn - diagnosis | Whole Exome Sequencing - trends | Genome, Human - genetics | Whole Genome Sequencing - trends
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3. Full Text Heterozygous WNT1 variant causing a variable bone phenotype
by Alhamdi, Shatha and Lee, Yi‐Chien and Chowdhury, Shimul and Byers, Peter H and Gottschalk, Michael and Taft, Ryan J and Joeng, Kyu Sang and Lee, Brendan H and Bird, Lynne M
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2419 - 2424
Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility. Most individuals with OI have mutations in the genes encoding type I... 
osteogenesis imperfecta | osteoporosis | WNT1 variant | FORMS | GENETICS & HEREDITY | SKELETAL CHARACTERISTICS | MUTATIONS | CHILDREN | Osteoporosis | Genetic aspects | Collagen | Genomics | Phenotypes | Collagen (type I) | Genitalia | Strabismus | Phenotypic variations | Heredity | Genomes | Mental depression | Genotype & phenotype | Fractures | Osteogenesis imperfecta | Children | Mutation | Osteogenesis
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4. Full Text Effects of Aspirin on Growth Factor Release From Freshly Isolated Leukocyte-Rich Platelet-Rich Plasma in Healthy Men: A Prospective Fixed-Sequence Controlled Laboratory Study
by Jayaram, Prathap and Yeh, Peter and Patel, Shiv J and Cela, Racel and Shybut, Theodore B and Grol, Matthew W and Lee, Brendan H
The American Journal of Sports Medicine, ISSN 0363-5465, 4/2019, Volume 47, Issue 5, pp. 1223 - 1229
Background: The benefits of platelet-rich plasma (PRP) are believed to be in part dependent on growth factor release after platelet activation. Platelet... 
aspirin | activation | COX-1 | NSAIDs | platelet rich plasma | SPORT SCIENCES | THROMBIN | MECHANISMS | ORTHOPEDICS | Blood platelets | Laboratories | Vascular endothelial growth factor
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5. Full Text Combinatorial Prg4 and Il-1ra Gene Therapy Protects Against Hyperalgesia and Cartilage Degeneration in Post-Traumatic Osteoarthritis
by Stone, Adrianne and Grol, Matthew W and Ruan, Merry Z. C and Dawson, Brian and Chen, Yuqing and Jiang, Ming-Ming and Song, I-wen and Jayaram, Prathap and Cela, Racel and Gannon, Francis and Lee, Brendan H. L
Human Gene Therapy, ISSN 1043-0342, 02/2019, Volume 30, Issue 2, pp. 225 - 235
Osteoarthritis (OA) is a degenerative disease of synovial joints characterized by progressive loss of articular cartilage, subchondral bone remodeling, and... 
Research Articles | gene therapy | helper-dependent adenovirus | lubricin | proteoglycan 4 | osteoarthritis | interleukin-1 receptor antagonist | KNEE | MEDICINE, RESEARCH & EXPERIMENTAL | MODEL | MEDIAL MENISCUS | REPAIR | PAIN | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DESTABILIZATION | GENETICS & HEREDITY | BONE | EXPRESSION
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6. Full Text Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results
by Stevens Smith, Hadley and Russell, Heidi V and Lee, Brendan H and Morain, Stephanie R and and the Value of Exome Sequencing Delphi Panel
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019
Information obtained from clinical exome sequencing (ES) may impact clinical care or other aspects of a patient's life. Little is known about clinicians'... 
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7. Full Text Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis
by Joeng, Kyu Sang and Lee, Yi-Chien and Lim, Joohyun and Chen, Yuqing and Jiang, Ming-Ming and Munivez, Elda and Ambrose, Catherine and Lee, Brendan H
Journal of Clinical Investigation, ISSN 0021-9738, 07/2017, Volume 127, Issue 7, p. 2678
Osteoporosis | Analysis | Homeostasis | Bones | Genetic aspects | Research | Health aspects | Density
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8. Full Text Bmi1 Suppresses Adipogenesis in the Hematopoietic Stem Cell Niche
by Hu, Tianyuan and Kitano, Ayumi and Luu, Victor and Dawson, Brian and Hoegenauer, Kevin A and Lee, Brendan H and Nakada, Daisuke
Stem Cell Reports, ISSN 2213-6711, 09/2019, Volume 13, Issue 3, pp. 545 - 558
Bone marrow stromal cells (BMSCs) that express high levels of stem cell factor (SCF) and CXC chemokine ligand 12 (CXCL12) are one crucial component of the... 
mesenchymal stromal cells | polycomb | PAX3 | niche | BMI1 | hematopoietic stem cells | adipocytes | epigenetics | TRANSFORMATION | MAINTENANCE | DEVELOPMENTAL REGULATORS | HISTONE H2A | REGENERATION | BONE-MARROW ADIPOCYTES | PROLIFERATION | DIFFERENTIATION | POLYCOMB | EXPRESSION | CELL & TISSUE ENGINEERING | CELL BIOLOGY
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9. Full Text Abstract 2068: Single-cell RNA-seq profiling of the transcriptional response to Rb loss in the retinoblastoma cell of origin
by Lee, Sunhye and Singh, Hardeep P and Triska, Martin and Stachelek, Kevin T and Bay, Maxwell M and Grubbs, Brendan H and Thronton, Matthew E and Hu, Haoze and Segil, Neil I and Bonaguidi, Michael A and Cobrinik, David
Cancer Research, ISSN 0008-5472, 07/2018, Volume 78, Issue 13 Supplement, pp. 2068 - 2068
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10. Full Text Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature
by Handoko, Maureen and Emrick, Lisa T and Rosenfeld, Jill A and Wang, Xia and Tran, Alyssa A and Turner, Alicia and Belmont, John W and Lee, Brendan H and Bacino, Carlos A and Chao, Hsiao‐Tuan and Undiagnosed Dis Network and Undiagnosed Diseases Network
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 475 - 479
Genetic alterations leading to overactivation of mammalian target of rapamycin (mTOR) signaling result in brain overgrowth syndromes such as focal cortical... 
polymicrogyria | megalencephaly | somatic mosaicism | MTOR gene | cutaneous pigmentary mosaicism | SIGNALING PATHWAY | GENETICS & HEREDITY | SOMATIC MUTATIONS | Medicine, Experimental | Medical colleges | Medical research | Skin | Chromosomes | TOR protein | Phenotypes | Dysplasia | Hydrocephalus | Cortex | Stenosis | Polymicrogyria | Single-nucleotide polymorphism | Rapamycin | Neurodevelopmental disorders | Corpus callosum | Literature reviews | DNA microarrays | Peripheral blood | Fibroblasts | Mosaicism
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11. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
by Jessica X Chong and Lindsay C Burrage and Anita E Beck and Colby T Marvin and Margaret J McMillin and Kathryn M Shively and Tanya M Harrell and Kati J Buckingham and Carlos A Bacino and Mahim Jain and Yasemin Alanay and Susan A Berry and John C Carey and Richard A Gibbs and Brendan H Lee and Deborah Krakow and Jay Shendure and Deborah A Nickerson and Michael J Bamshad
American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, p. 841
  Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia,... 
Proteins | Genotype & phenotype | Genetic disorders | Mutation
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12. Full Text Gene therapy for repair and regeneration of bone and cartilage
by Grol, Matthew W and Lee, Brendan H
Current Opinion in Pharmacology, ISSN 1471-4892, 06/2018, Volume 40, pp. 59 - 66
Gene therapy refers to the use of viral and non-viral vectors to deliver nucleic acids to tissues of interest using direct ( ) or transduced cell-mediated ( )... 
COLLAGEN-INDUCED ARTHRITIS | STEM-CELLS | AMELIORATES OSTEOARTHRITIS | SYNOVIAL FIBROBLASTS | INTRAARTICULAR INJECTION | HUMAN CHONDROCYTES | RECEPTOR-ANTAGONIST PROTEIN | PHARMACOLOGY & PHARMACY | GROWTH-FACTOR | EXPRESSING TRANSFORMING GROWTH-FACTOR-BETA-1 | HYALINE CARTILAGE | Bone and Bones - pathology | Gene Transfer Techniques | Bone Diseases - therapy | Bone Diseases - genetics | Cartilage - pathology | Chondrogenesis - genetics | Humans | Bone Diseases - physiopathology | Cartilage - metabolism | Cartilage - physiopathology | Cartilage Diseases - pathology | Bone and Bones - physiopathology | Animals | Cartilage Diseases - genetics | Cartilage Diseases - physiopathology | Regeneration - genetics | Bone and Bones - metabolism | Cartilage Diseases - therapy | MicroRNAs - genetics | Bone Remodeling - genetics | Bone Diseases - pathology | Genetic Vectors | Genetic Therapy - methods | Medical colleges | Care and treatment | Genes | DNA binding proteins | Genetic transcription | Transforming growth factors | MicroRNA | Genetic vectors | Analysis | Bone morphogenetic proteins | Gene therapy | Osteoarthritis | Health aspects
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13. Adult presentation of X-linked Conradi-Huenermann-Happle syndrome
by Posey, Jennifer E and Burrage, Lindsay C and Campeau, Philippe M and Lu, James T and Eble, Tanya N and Kratz, Lisa and Schlesinger, Alan E and Gibbs, Richard A and Lee, Brendan H and Nagamani, Sandesh CS
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1309 - 1314
Conradi-Huenermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While... 
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14. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
by Yee Him Cheung and Tenzin Gayden and Philippe M Campeau and Charles A LeDuc and Donna Russo and Van-Hung Nguyen and Jiancheng Guo and Ming Qi and Yanfang Guan and Steffen Albrecht and Brenda Moroz and Karen W Eldin and James T Lu and Jeremy Schwartzentruber and David Malkin and Albert M Berghuis and Sherif Emil and Richard A Gibbs and David L Burk and Megan Vanstone and Brendan H Lee and David Orchard and Kym M Boycott and Wendy K Chung and Nada Jabado
American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, p. 996
  Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA... 
Tissue | Blood platelets | Blood vessels | Smooth muscle | Mutation | Deoxyribonucleic acid--DNA | Tumors
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15. Full Text Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing
by Lu, James T and Campeau, Philippe M and Lee, Brendan H
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 7, pp. 593 - 596
Newly cost-effective next-generation sequencing has led to an explosion of discoveries of novel genetic mutations that reveal the rampant “promiscuity” of... 
MEDICINE, GENERAL & INTERNAL | DISEASE | High-Throughput Nucleotide Sequencing - economics | Genetic Predisposition to Disease | Genome-Wide Association Study | Genotyping Techniques - economics | Humans | Genotype | Genetic Testing - methods | Polymorphism, Genetic | Exome | Phenotype | Genotyping Techniques - trends | Genetic Testing - economics | Genetic Testing - trends | Mutation | Studies | Proteins | Genotype & phenotype | Phenotypes | Disease | Genes | Genotypes
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16. Full Text WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
by Laine, Christine M and Laine, Tero and Joeng, Kyu Sang and Campeau, Philippe M and Kiviranta, Riku and Tarkkonen, Kati and Grover, Monica and Lu, James T and Pekkinen, Minna and Wessman, Maija and Heino, Terhi J and Nieminen-Pihala, Vappu and Aronen, Mira and Kröger, Heikki and Cole, William G and Lehesjoki, Anna-Elina and Nevarez, Lisette and Krakow, Deborah and Curry, Cynthia J.R and Cohn, Daniel H and Gibbs, Richard A and Lee, Brendan H and Mäkitie, Outi and Institute of Clinical Sciences, Section for Anesthesiology, Biomaterials and Orthopaedics, Department of Orthopaedics and Institute of Medicine and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för anestesi, biomaterial och ortopedi, Avdelningen för ortopedi and Sahlgrenska Academy and Sahlgrenska akademin and Institutionen för medicin
The New England Journal of Medicine, ISSN 0028-4793, 05/2013, Volume 368, Issue 19, pp. 1809 - 1816
This report identifies human skeletal diseases associated with mutations in WNT1 in a family with dominantly inherited early-onset osteoporosis and in another... 
CELLS | MEDICINE, GENERAL & INTERNAL | PROTEIN | FORM | DISEASE | OSTEOBLASTS | MOUSE | DIFFERENTIATION | Wnt1 Protein - genetics | Humans | Middle Aged | Osteogenesis Imperfecta - genetics | Male | Mice, Transgenic | Wnt1 Protein - metabolism | Genes, Recessive | Young Adult | Animals | Genes, Dominant | Pedigree | Adolescent | Age of Onset | Adult | Female | Osteoporosis - genetics | Aged | Mice | Mutation | Child | Wnt protein | Nonsense mutation | Families & family life | Cell lineage | Osteocytes | Bone diseases | Osteoblasts | Hemopoiesis | Osteoporosis | Missense mutation | Fractures | Lymphocytes B | Mineralization | Osteogenesis imperfecta | Fibroblasts | Bone marrow | Ligands | Age | Osteogenesis | Siblings | Klinisk medicin | Clinical Medicine
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