COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors.
Autorzy:
Ferreira LGA; Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.; Murdoch Children's Research Institute, Melbourne, Australia. Kizys MML; Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil. Gama GAC; Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil. Pachernegg S; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Robevska G; Murdoch Children's Research Institute, Melbourne, Australia. Sinclair AH; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. AyersKL; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil. .
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Cell & bioscience [Cell Biosci] 2024 Jan 04; Vol. 14 (1), pp. 3. Date of Electronic Publication: 2024 Jan 04.
Impaired glymphatic function in the early stages of disease in a TDP-43 mouse model of amyotrophic lateral sclerosis.
Autorzy:
Zamani A; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia. Walker AK; Queensland Brain Institute, The University of Queensland, St Lucia, QLD, 4072, Australia. Rollo B; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia. AyersKL; The Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Pediatrics, The University of Melbourne, Parkville, VIC, 3052, Australia. Farah R; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia. O'Brien TJ; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia.; Department of Medicine, The Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3052, Australia. Wright DK; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia. .
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Źródło:
Translational neurodegeneration [Transl Neurodegener] 2022 Mar 15; Vol. 11 (1), pp. 17. Date of Electronic Publication: 2022 Mar 15.
A composite biomarker of neutrophil-lymphocyte ratio and hemoglobin level correlates with clinical response to PD-1 and PD-L1 inhibitors in advanced non-small cell lung cancers.
Autorzy:
AyersKL; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. Ma M; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. Debussche G; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. Corrigan D; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. McCafferty J; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. Lee K; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. Newman S; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. Zhou X; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. Hirsch FR; Center of Thoracic Oncology/Tisch Cancer Institute and Icahn School of Medicine, Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, 10029, USA. Mack PC; Center of Thoracic Oncology/Tisch Cancer Institute and Icahn School of Medicine, Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, 10029, USA. Liu JJ; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA.; Illinois Cancer Care, 8940 N Wood Sage Rd, Peoria, IL, 61615, USA. Schadt EE; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. .; Center of Thoracic Oncology/Tisch Cancer Institute and Icahn School of Medicine, Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, 10029, USA. . Chen R; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. .; Center of Thoracic Oncology/Tisch Cancer Institute and Icahn School of Medicine, Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, 10029, USA. . Li SD; Sema4, a Mount Sinai Venture, 333 Ludlow Street, Stamford, CT, 06902, USA. .; Center of Thoracic Oncology/Tisch Cancer Institute and Icahn School of Medicine, Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, 10029, USA. .
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Źródło:
BMC cancer [BMC Cancer] 2021 Apr 21; Vol. 21 (1), pp. 441. Date of Electronic Publication: 2021 Apr 21.
Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia.
Autorzy:
Listyasari NA; Doctorate Program of Medical and Health Sciences, Faculty of Medicine, Diponegoro University, Semarang, Indonesia. Robevska G; Murdoch Children's Research Institute, Melbourne, Australia. Santosa A; Urology Department, Dr. Kariadi Hospital, Semarang, Indonesia. Bouty A; Murdoch Children's Research Institute, Melbourne, Australia.; Urology Department, Royal Children's Hospital, Melbourne, Australia. Juniarto AZ; Division of Human Genetics, Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU), Semarang, Indonesia. van den Bergen J; Murdoch Children's Research Institute, Melbourne, Australia. AyersKL; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Sinclair AH; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Faradz SM; Division of Human Genetics, Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU), Semarang, Indonesia.
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
Autorzy:
van den Bergen JA; Genetics, Murdoch Children's Research Institute, Parkville, Vic., Australia. Robevska G; Genetics, Murdoch Children's Research Institute, Parkville, Vic., Australia. Eggers S; Research Genomics, Murdoch Children's Research Institute, Parkville, Vic., Australia. Riedl S; St. Anna Children's Hospital, Medical University of Vienna, Vienna, Austria.; Paediatric Department, Medical University of Vienna, Vienna, Austria. Grover SR; Genetics, Murdoch Children's Research Institute, Parkville, Vic., Australia.; Department of Paediatric and Adolescent Gynaecology, Royal Children's Hospital Melbourne, Parkville, Vic., Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia. Bergman PB; Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Clayton, Vic., Australia.; Department of Paediatrics, Monash University, Clayton, Vic., Australia. Kimber C; Department of Paediatric Urology, Monash Children's Hospital, Clayton, Vic., Australia. Jiwane A; Department of Urology, Sydney Children's Hospital Randwick, Randwick, NSW, Australia. Khan S; Surgical Department, Angkor Hospital for Children, Siem Reap, Cambodia. Krausz C; Department of Experimental and Clinical Biomedical Sciences'Mario Serio', University of Florence, Firenze, Toscana, Italy. Raza J; Paediatric Department, National Institute of Child Health, Karachi City, Sindh, Pakistan. Atta I; Paediatric Department, National Institute of Child Health, Karachi City, Sindh, Pakistan. Davis SR; Women's Health Research Program, School of Public Health and Preventive Medicine, Monash University, Melbourne, Vic., Australia. Ono M; Department of Paediatrics, Tokyo Bay Urayasu Ichikawa Iryo Center, Urayasu, Chiba, Japan. Harley V; Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Clayton, Vic., Australia. Faradz SMH; Division of Human Genetics, Centre for Biomedical Research Faculty of Medicine, Diponegoro University (FMDU), Semarang, Indonesia. Sinclair AH; Genetics, Murdoch Children's Research Institute, Parkville, Vic., Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia. AyersKL; Genetics, Murdoch Children's Research Institute, Parkville, Vic., Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia.
Correction to: Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits.
Autorzy:
Glicksberg BS; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, 94158, USA. Amadori L; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Akers NK; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Sukhavasi K; Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia. Franzén O; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Novum, 14157, Huddinge, Sweden. Li L; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Belbin GM; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. AyersKL; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. Shameer K; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Badgeley MA; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Johnson KW; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Readhead B; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Darrow BJ; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Kenny EE; Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Preventive Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Betsholtz C; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85, Uppsala, Sweden. Ermel R; Department of Cardiac Surgery, Tartu University Hospital, 1a Ludwig Puusepa Street, 50406, Tartu, Estonia. Skogsberg J; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset Huddinge, 141 86, Stockholm, Sweden. Ruusalepp A; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85, Uppsala, Sweden. Schadt EE; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. Dudley JT; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Health Policy and Research, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Ren H; Department of Pediatrics, Herman B Wells Center for PediatricResearch, Center for Diabetes and Metabolic Diseases, Stark Neurosciences Research Institute, Indiana University, 635 Barnhill Dr., MS2049, Indianapolis, IN, 46202, USA. Kovacic JC; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Giannarelli C; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Li SD; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. . Björkegren JLM; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia. .; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden. .; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset Huddinge, 141 86, Stockholm, Sweden. . Chen R; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2019 Nov 05; Vol. 12 (1), pp. 154. Date of Electronic Publication: 2019 Nov 05.
Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits.
Autorzy:
Glicksberg BS; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, 94158, CA, USA. Amadori L; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Akers NK; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Sukhavasi K; Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia. Franzén O; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Novum, 14157, Huddinge, Sweden. Li L; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Belbin GM; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. AyersKL; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. Shameer K; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Badgeley MA; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Johnson KW; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Readhead B; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Darrow BJ; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Kenny EE; Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Preventive Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Betsholtz C; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85, Uppsala, Sweden. Ermel R; Department of Cardiac Surgery, Tartu University Hospital, 1a Ludwig Puusepa Street, 50406, Tartu, Estonia. Skogsberg J; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset Huddinge, 141 86, Stockholm, Sweden. Ruusalepp A; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85, Uppsala, Sweden. Schadt EE; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. Dudley JT; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Health Policy and Research, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Ren H; Department of Pediatrics, Herman B Wells Center for Pediatric Research, Center for Diabetes and Metabolic Diseases, Stark Neurosciences Research Institute, Indiana University, 635 Barnhill Dr., MS2049, Indianapolis, IN, 46202, USA. Kovacic JC; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Giannarelli C; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. Li SD; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. . Björkegren JLM; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia. .; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden. .; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset Huddinge, 141 86, Stockholm, Sweden. . Chen R; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2019 Jul 25; Vol. 12 (Suppl 6), pp. 108. Date of Electronic Publication: 2019 Jul 25.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis.
Autorzy:
Darlay R; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. AyersKL; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. Mells GF; Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom. Hall LS; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.; Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, United Kingdom. Liu JZ; Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom. Almarri MA; Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom.; Department of Forensic Science and Criminology, Dubai Police HQ, Dubai, United Arab Emirates. Alexander GJ; Department of Hepatology, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, United Kingdom. Jones DE; Institute of Cellular Medicine, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom. Sandford RN; Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom. Anderson CA; Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom. Cordell HJ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
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Źródło:
PLoS genetics [PLoS Genet] 2018 Dec 03; Vol. 14 (12), pp. e1007833. Date of Electronic Publication: 2018 Dec 03 (Print Publication: 2018).
A novel, homozygous mutation in desert hedgehog ( DHH ) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.
Autorzy:
Rothacker KM; 1Department of Endocrinology and Diabetes, Princess Margaret Hospital, Subiaco, WA Australia.; 11Department of Endocrinology and Diabetes, Princess Margaret Hospital, GPO Box D 184, Perth, WA Australia. AyersKL; 2Murdoch Childrens Research Institute, Melbourne, VIC Australia.; 3Department of Paediatrics, The University of Melbourne, Melbourne, VIC Australia. Tang D; 4Telethon Kids Institute, Subiaco, WA Australia. Joshi K; 1Department of Endocrinology and Diabetes, Princess Margaret Hospital, Subiaco, WA Australia. van den Bergen JA; 2Murdoch Childrens Research Institute, Melbourne, VIC Australia. Robevska G; 2Murdoch Childrens Research Institute, Melbourne, VIC Australia. Samnakay N; 5Department of Paediatric Surgery, Princess Margaret Hospital, Subiaco, WA Australia.; 6School of Surgery, The University of Western Australia, Crawley, WA Australia. Nagarajan L; 7Department of Neurology, Princess Margaret Hospital, Subiaco, WA Australia.; 8School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA Australia. Francis K; Department of Anatomical Pathology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA Australia. Sinclair AH; 2Murdoch Childrens Research Institute, Melbourne, VIC Australia.; 3Department of Paediatrics, The University of Melbourne, Melbourne, VIC Australia.; Victorian Clinical Genetics Service, Melbourne, VIC Australia. Choong CS; 1Department of Endocrinology and Diabetes, Princess Margaret Hospital, Subiaco, WA Australia.; 8School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA Australia.
A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE ε4 allele carriers.
Autorzy:
AyersKL; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. Mirshahi UL; Geisinger Clinic, Danville, PA, 17822, USA. Wardeh AH; Geisinger Clinic, Danville, PA, 17822, USA. Murray MF; Geisinger Clinic, Danville, PA, 17822, USA. Hao K; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. Glicksberg BS; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. Li S; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. Carey DJ; Geisinger Clinic, Danville, PA, 17822, USA. Chen R; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. .
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Źródło:
BMC genomics [BMC Genomics] 2016 Jun 23; Vol. 17 Suppl 2, pp. 445. Date of Electronic Publication: 2016 Jun 23.
Erratum to: 'Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq'.
Autorzy:
AyersKL; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. Lambeth LS; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia. Davidson NM; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia. Sinclair AH; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. Oshlack A; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia. Smith CA; Department of Anatomy and Developmental Biology, Monash University, Clayton, VIC, 3168, Australia. .
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Źródło:
BMC genomics [BMC Genomics] 2016 Mar 02; Vol. 17, pp. 169. Date of Electronic Publication: 2016 Mar 02.
Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq.
Autorzy:
AyersKL; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia. katie.ayers@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. katie.ayers@mcri.edu.au. Lambeth LS; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia. . Davidson NM; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia. . Sinclair AH; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia. .; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. . Oshlack A; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, 3052, Parkville, VIC, Australia. . Smith CA; Department of Anatomy and Developmental Biology, Monash University, Clayton, VIC, 3168, Australia. .
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Źródło:
BMC genomics [BMC Genomics] 2015 Sep 16; Vol. 16, pp. 704. Date of Electronic Publication: 2015 Sep 16.
The Genetic and Environmental Factors Underlying Hypospadias.
Autorzy:
Bouty A; Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Vic., Australia.; Department of Surgery, Royal Children's Hospital, University of Melbourne, Melbourne, Vic., Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia. AyersKL; Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Vic., Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia. Pask A; Department of Zoology, University of Melbourne, Melbourne, Vic., Australia. Heloury Y; Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Vic., Australia.; Department of Surgery, Royal Children's Hospital, University of Melbourne, Melbourne, Vic., Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia. Sinclair AH; Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Vic., Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia.
Analysis of Genetic Analysis Workshop 18 data with gene-based penalized regression.
Autorzy:
AyersKL; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK. Cordell HJ; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK.
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Źródło:
BMC proceedings [BMC Proc] 2014 Jun 17; Vol. 8 (Suppl 1), pp. S43. Date of Electronic Publication: 2014 Jun 17 (Print Publication: 2014).
Penalized-regression-based multimarker genotype analysis of Genetic Analysis Workshop 17 data.
Autorzy:
AyersKL; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. . Mamasoula C Cordell HJ
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Źródło:
BMC proceedings [BMC Proc] 2011 Nov 29; Vol. 5 Suppl 9, pp. S92. Date of Electronic Publication: 2011 Nov 29.
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