Prevalence and spectrum of germline pathogenic variants in cancer susceptibility genes among mexican patients with exocrine pancreatic cancer

Autor: Rodríguez-Olivares, José Luis, Kimball, Tamara N., Jeter, Joanne M., De-La-Mora-Molina, Héctor, Núñez, Isaac, Weitzel, Jeffrey N., Chávarri-Guerra, Yanin

Publikováno v: In Pancreatology November 2024 24(7):1049-1056

Health-Related Behaviors and Risk of Common Age-Related Brain Diseases Across Severities of Genetic Risk.

Autor: Marini, Sandro, Kimball, Tamara N., Mayerhofer, Ernst, Tack, Reinier W.P., Senff, Jasper R., Prapiadou, Savvina, Rivier, Cyprien A., Duskin, Jonathan, Kourkoulis, Christina, Falcone, Guido J., Yechoor, Nirupama, Tanzi, Rudolph E., Rosand, Jonathan, Singh, Sanjula, Parodi, Livia, Anderson, Christopher D.

Publikováno v: Neurology; 11/26/2024, Vol. 103 Issue 10, p1-10, 10p

Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.

Autor: Kimball, Tamara N., Rivero‐García, Pamela, Barrera‐Godínez, Alejandro, Domínguez‐Cherit, Judith

Publikováno v: American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-7, 7p

Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.

Autor: Rivero-García, Pamela, Aguilar-Lugo-Gerez, Juan José, Kimball, Tamara N, Reza-Albarrán, Alfredo Adolfo

Publikováno v: JCEM Case Reports; Jul2023, Vol. 1 Issue 4, p1-6, 6p

Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk.

Autor: Georgakis MK; Institute for Stroke and Dementia Research (ISD), University Hospital, Ludwig-Maximilians-University (LMU), Munich, Germany.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Malik R; Institute for Stroke and Dementia Research (ISD), University Hospital, Ludwig-Maximilians-University (LMU), Munich, Germany., El Bounkari O; Institute for Stroke and Dementia Research (ISD), University Hospital, Ludwig-Maximilians-University (LMU), Munich, Germany., Hasbani NR; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Li J; Department of Molecular and Functional Genomics, Geisinger Health System, Danville, Pennsylvania, USA., Huffman JE; Veterans Affairs Healthcare System, Boston, MA, USA., Shakt G; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Corporal Michael Crescenz VA Medical Center, Philadelphia, PA, USA., Tack RWP; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Kimball TN; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., Asare Y; Institute for Stroke and Dementia Research (ISD), University Hospital, Ludwig-Maximilians-University (LMU), Munich, Germany., Morrison AC; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Tsao NL; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Corporal Michael Crescenz VA Medical Center, Philadelphia, PA, USA., Judy R; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Corporal Michael Crescenz VA Medical Center, Philadelphia, PA, USA., Mitchell BD; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD.; Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD., Xu H; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD., Montasser ME; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD., Do R; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kenny EE; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Center for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Terry JG; Department of Radiology, Vanderbilt University Medical Center, Nashville, TN, USA., Carr JJ; Department of Radiology, Vanderbilt University Medical Center, Nashville, TN, USA., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Health Systems and Population Health, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA., Longstreth WT; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Young KA; Department of Epidemiology, University of Colorado Anschutz Medical Campus, Aurora CO, USA., Lutz SM; Department of Population Medicine, PRecisiOn Medicine Translational Research (PROMoTeR) Center, Harvard Pilgrim Health Care and Harvard Medical School, Boston, MA, USA.; Department of Biostatistics, T.H. Chan School of Public Health, Harvard University, Boston, MA, USA., Cho MH; Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Broome J; Department of Biostatistics, University of Washington, Seattle, WA, USA., Khan AT; Department of Biostatistics, University of Washington, Seattle, WA, USA., Wang FF; Department of Biostatistics, University of Washington, Seattle, WA, USA., Heard-Costa N; Department of Medicine, Boston University School of Medicine, Boston, MA, USA.; Boston University and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA., Seshadri S; Bigg's Institute for Alzheimer's Disease and neurodegenerative disorders, University of Texas Health Science Center, San Antonio, TX, USA., Vasan RS; Department of Medicine, Boston University School of Medicine, Boston, MA, USA.; Boston University and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA., Palmer ND; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Freedman BI; Section on Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA., Bowden DW; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Yanek LR; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kral BG; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Becker LC; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Peyser PA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Bielak LF; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Ammous F; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson, MS., Hall ME; Department of Medicine, University of Mississippi Medical Center, Jackson, MS., Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA USA., Post WS; Johns Hopkins Bloomberg School of Public Health, Johns Hopkins School of Medicine, Baltimore, MD USA., Tracy RP; Departments of Pathology & Laboratory Medicine, and Biochemistry, Larner College of Medicine, University of Vermont, Burlington, VT USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA USA., Mahaney MC; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville TX USA., Curran JE; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville TX USA., Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville TX USA., Clarke SL; Department of Medicine (Division of Cardiovascular Medicine), Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford, CA, USA.; VA Palo Alto Health Care System, Palo Alto, CA, USA., Haessler JW; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle WA 98109 USA., Hu Y; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle WA 98109 USA., Assimes TL; Department of Medicine (Division of Cardiovascular Medicine), Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford, CA, USA.; VA Palo Alto Health Care System, Palo Alto, CA, USA., Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle WA 98109 USA., Bernhagen J; Institute for Stroke and Dementia Research (ISD), University Hospital, Ludwig-Maximilians-University (LMU), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; German Centre for Cardiovascular Research (DZHK, Munich), partner site Munich Heart Alliance, Munich, Germany., Anderson CD; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., Damrauer SM; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Corporal Michael Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Zand R; Department of Neurology, Pennsylvania State University, Hershey, Pennsylvania, USA.; Department of Neurology, Neuroscience Institute, Geisinger Health System, Danville, PA, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA USA., de Vries PS; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Dichgans M; Institute for Stroke and Dementia Research (ISD), University Hospital, Ludwig-Maximilians-University (LMU), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; German Centre for Neurodegenerative Diseases (DZNE), Munich, Germany.; German Centre for Cardiovascular Research (DZHK, Munich), partner site Munich Heart Alliance, Munich, Germany.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jun 26. Date of Electronic Publication: 2024 Jun 26.