130. De Novo Mutations in 555 Trios Implicate Chromatin Modification, Transcriptional Regulation, and Retinoic Acid Signaling in Syndromic Craniosynostosis

Autor: Andrew Timberlake, MD, PhD, Garrett Allington, BS, Emre Kiziltug, BS, Erin Wolfe, BS, John Persing, MD, Richard P. Lifton, MD, PhD, Gene Dx, Kristopher T. Kahle, MD, PhD

Publikováno v: Plastic and Reconstructive Surgery, Global Open, Vol 10, Iss 6S, Pp 85-85 (2022)

Externí odkaz: https://doaj.org/article/4f8aa43daefa4e11a08790371d048c1a

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Autor: Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba‐Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Khorassani, Mohamed El, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda‐Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Rothman, James, Giunti, Paola, Salpietro, Vincenzo, Oconnor, Emer, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Hostettler, Isabel, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen‐Yang, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al‐Khawaja, Issam, Al‐Mutairi, Fuad, Alkuraya, Fowzan S, Sherifa, Hamed, Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Oshinaike, Olajumoke O., Wahab, Kolawole, Bello, Abiodun H., Abubakar, Sanni, Obiabo, Yahaya, Nwazor, Ernest, Ekenze, Oluchi, Williams, Uduak, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Pchelina, Sofya, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Rossi, Salvatore, Silvestri, Gabriella, Bourinaris, Thomas, Xiromerisiou, Georgia, Fidani, Liana, Spanaki, Cleanthe, Tucci, Arianna

Publikováno v: Annals of Neurology
Annals of Neurology, Wiley, 2019, 86 (2), pp.225-240. ⟨10.1002/ana.25524⟩
Chelban, V, Wilson, M P, Warman Chardon, J, Vandrovcova, J, Zanetti, M N, Zamba-papanicolaou, E, Efthymiou, S, Pope, S, Conte, M R, Abis, G, Liu, Y, Tribollet, E, Haridy, N A, Botía, J A, Ryten, M, Nicolaou, P, Minaidou, A, Christodoulou, K, Kernohan, K D, Eaton, A, Osmond, M, Ito, Y, Bourque, P, Jepson, J E C, Bello, O, Bremner, F, Cordivari, C, Reilly, M M, Foiani, M, Heslegrave, A, Zetterberg, H, Heales, S J R, Wood, N W, Rothman, J E, Boycott, K M, Mills, P B, Clayton, P T & Houlden, H 2019, ' PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation ', Annals of Neurology, vol. 86, no. 2, pp. 225-240 . https://doi.org/10.1002/ana.25524
Annals of Neurology, 86(2), 225-240. WILEY

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5115f8b7d8c97f9254f07395bee95127

Gemcitabine and cisplatin plus nivolumab as organ-sparing treatment for muscle-invasive bladder cancer: a phase 2 trial.

Autor: Galsky MD; Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. matthew.galsky@mssm.edu.; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. matthew.galsky@mssm.edu., Daneshmand S; Department of Urology, Keck School of Medicine of USC, Norris Comprehensive Cancer Center, Los Angeles, CA, USA., Izadmehr S; Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gonzalez-Kozlova E; Department of Oncological Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Chan KG; Department of Urology, City of Hope Comprehensive Cancer Center, Duarte, CA, USA., Lewis S; Department of Radiology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Achkar BE; Department of Radiology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Dorff TB; Department of Medical Oncology & Therapeutics, City of Hope Comprehensive Cancer Center, Duarte, CA, USA., Cetnar JP; Division of Hematology and Medical Oncology, Oregon Health and Science University, Portland, OR, USA., Neil BO; Department of Urology, University of Utah, Salt Lake City, UT, USA., D'Souza A; Division of Hematology and Medical Oncology, Keck School of Medicine of USC, Norris Comprehensive Cancer Center, Los Angeles, CA, USA., Mamtani R; Division of Hematology and Medical Oncology, University of Pennsylvania Abramson Cancer Center, Philadelphia, PA, USA., Kyriakopoulos C; Division of Hematology and Medical Oncology, University of Wisconsin Carbone Cancer Center, Madison, WI, USA., Jun T; Genentech, South San Francisco, CA, USA.; Formerly with the Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gogerly-Moragoda M; Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Brody R; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pathology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Xie H; Human Immune Monitoring Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Nie K; Human Immune Monitoring Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kelly G; Human Immune Monitoring Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Horowitz A; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kinoshita Y; Department of Pathology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ellis E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Nose Y; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ioannou G; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Cabal R; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Del Valle DM; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Haines GK; Department of Pathology, Molecular and Cell-based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Wang L; Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Gene Dx, Stamford, CT, USA., Mouw KW; Department of Radiation Oncology, Dana-Farber Cancer Institute/Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA., Samstein RM; Department of Radiation Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Mehrazin R; Department of Urology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Bhardwaj N; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Human Immune Monitoring Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Yu M; Department of Biostatistics and Medical Informatics, University of Wisconsin Carbone Cancer Center, Madison, WI, USA., Zhao Q; Department of Biostatistics and Medical Informatics, University of Wisconsin Carbone Cancer Center, Madison, WI, USA., Kim-Schulze S; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Human Immune Monitoring Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Sebra R; Tisch Cancer Institute, 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.; Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Zhu J; Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Gene Dx, Stamford, CT, USA., Gnjatic S; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Human Immune Monitoring Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Sfakianos J; Department of Urology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Pal SK; Department of Medical Oncology & Therapeutics, City of Hope Comprehensive Cancer Center, Duarte, CA, USA.

Publikováno v: Nature medicine [Nat Med] 2023 Nov; Vol. 29 (11), pp. 2825-2834. Date of Electronic Publication: 2023 Oct 02.

Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.

Autor: Lindsay F; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee., Anderson I; Division of Medical Genetics, Department of Medicine, University of Tennessee College of Medicine, Knoxville, Tennessee., Wentzensen IM; Gene Dx, Gaithersburg, Maryland., Suhrbier D; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 623-627. Date of Electronic Publication: 2020 Jan 31.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Autor: Vetrini F; Baylor Genetics, Houston, TX, 77021, USA.; Present address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Suri M; Nottingham Genetics Service, Nottingham City Hospital, Nottingham, UK., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA., Roeder E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA., Holder S; North West Thames Regional Genetics Service, 759 Northwick Park Hospital, London, UK., Zhu W; Baylor Genetics, Houston, TX, 77021, USA., Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Graham B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Present address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Harris JM; Dell Children's Medical Group, Austin, TX, 78723, USA., Gibson JB; Dell Children's Medical Group, Austin, TX, 78723, USA., Pastore M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; and Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, 43205, USA., McBride KL; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; and Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, 43205, USA., Komara M; Department of Pediatrics, College of Medicine & Health Sciences, United Arab University, Al Ain, UAE., Al-Gazali L; Department of Pediatrics, College of Medicine & Health Sciences, United Arab University, Al Ain, UAE., Al Shamsi A; Department of Pediatrics, Tawam Hospital, Al-Ain, UAE., Fanning EA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA., Wierenga KJ; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.; Present address: Mayo Clinic Florida, Department of Clinical Genomics, Jacksonville, FL, 32224, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA., Ben-Neriah Z; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Meiner V; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Cassuto H; The Hebrew University of Jerusalem, Jerusalem, Israel., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, 91120, Jerusalem, Israel., Holder JL Jr; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Seaver LH; Department of Pediatrics, University of Hawaii, Honolulu, HI, 96826, USA., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Mahida S; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA., Soul JS; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA., Marlatt M; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA., Matyakhina L; Gene DX, Gaithersburg, MD, 20877, USA., Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners; and Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Gold JA; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Park SM; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Varghese V; All-Wales Medical Genetics Service, University Hospital of Wales, Cardiff, UK., Lampe AK; South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh, UK., Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK., Lees M; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK., Holder-Espinasse M; South East Thames Regional Genetics Service, Guy's Hospital, London, UK., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Bernhard B; North West Thames Regional Genetics Service, 759 Northwick Park Hospital, London, UK., Blair E; Oxford Regional Genetics Service, Oxford University Hospitals, Oxford, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Elsea SH; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Bi W; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lalani S; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA., Xia F; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Yang Y; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Eng CM; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA., Liu P; Baylor Genetics, Houston, TX, 77021, USA. pengfeil@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. pengfeil@bcm.edu.

Publikováno v: Genome medicine [Genome Med] 2019 Feb 28; Vol. 11 (1), pp. 12. Date of Electronic Publication: 2019 Feb 28.