A phase II study of cabozantinib and pembrolizumab in advanced gastric/gastroesophageal adenocarcinomas resistant or refractory to immune checkpoint inhibitors.

Autor: Dayyani F; Division of Hematology/Oncology, Department of Medicine, University of California Irvine, Orange, CA 92868, United States., Chao J; Department of Medical Oncology and Therapeutics Research, City of Hope, CA 91010, United States., Lee FC; Division of Hematology/Oncology, Department of Medicine, University of California Irvine, Orange, CA 92868, United States., Taylor TH; Department of Epidemiology and Biostatistics, University of California Irvine, Irvine, CA 92617, United States., Neumann K; Division of Hematology/Oncology, Department of Medicine, University of California Irvine, Orange, CA 92868, United States., Cho MT; Division of Hematology/Oncology, Department of Medicine, University of California Irvine, Orange, CA 92868, United States.

Publikováno v: The oncologist [Oncologist] 2024 Aug 05; Vol. 29 (8), pp. 721-e1088.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Autor: Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 May 02; Vol. 111 (5), pp. 996.

Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies.

Autor: Cho MT; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Health, Behavior and Society, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA., Davis C; Joan H. Marks Graduate Program in Human Genetics, Sarah Lawrence College, Bronxville, New York, USA., Lowe C; Health, Behavior and Society, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA., Flynn M; Department of Genetic Counseling, MGH Institute of Health Professions, Boston, Massachusetts, USA., Jamal L; Health, Behavior and Society, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.; Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Bioethics, National Institutes of Health, Bethesda, Maryland, USA., Bajaj K; Office of Quality & Safety, NYC Health + Hospitals/Jacobi/North Central Bronx, New York, New York, USA., Atzinger C; Department of Pediatrics, College of Medicine, University of Cincinnati & Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Erby LH; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Health, Behavior and Society, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.

Publikováno v: Journal of genetic counseling [J Genet Couns] 2024 Feb; Vol. 33 (1), pp. 118-123. Date of Electronic Publication: 2024 Feb 13.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Autor: Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT

Publikováno v: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Autor: Kummeling J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Stremmelaar DE; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Raun N; Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, NS, Canada.; Department of Physiology and Pharmacology, The University of Western Ontario, London, ON, Canada., Reijnders MRF; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6229 ER, Maastricht, The Netherlands., Willemsen MH; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Ruiterkamp-Versteeg M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Schepens M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Man CCO; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Cho MT; GeneDx, Gaithersburg, MD, 20877, USA., McWalter K; GeneDx, Gaithersburg, MD, 20877, USA., Sinnema M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6229 ER, Maastricht, The Netherlands., Wheless JW; Division of Pediatric Neurology, University of Tennessee Health Science Center, Memphis, TN, USA.; Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Le Bonheur Children's Hospital, Memphis, TN, USA., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Genetti CA; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Casey AM; Division of Pulmonary and Respiratory Diseases, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland., Bahr A; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland., Keller E; Division of Neuropediatrics, Cantonal Hospital Graubuenden, Chur, Switzerland., Raas-Rothschild A; Institute of Rare Disease, Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Agrawal PB; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Hoffman TL; Regional Department of Genetics, Southern California Kaiser Permanente Medical Group, 1188N. Euclid Street, Anaheim, CA, 92801, USA., Powell-Hamilton NN; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.; Department of Pathology and Laboratory Medicine, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Engleman K; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Zhou D; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Bodamer O; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Tasic V; Medical School Skopje, University Children's Hospital, Skopje, North Macedonia., Schubert D; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Top D; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Higgs MR; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK., Kramer JM; Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, NS, Canada.; Department of Physiology and Pharmacology, The University of Western Ontario, London, ON, Canada., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Tjitske.Kleefstra@radboudumc.nl.

Publikováno v: Molecular psychiatry [Mol Psychiatry] 2021 Jun; Vol. 26 (6), pp. 2013-2024. Date of Electronic Publication: 2020 Apr 28.