The Breastfeeding Experiences of Mother-Infant Dyads and the Effects of an FMR1 Mutation.

Autor: Cheves E; RTI International, Genomics and Translational Research Center, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA., Potter SN; RTI International, Genomics and Translational Research Center, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA., Kutsa O; RTI International, Genomics and Translational Research Center, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA.; Division of Epidemiology, The Ohio State University College of Public Health, Columbus, OH, USA., Andrews SM; RTI International, Genomics and Translational Research Center, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA., Gwaltney A; RTI International, Genomics and Translational Research Center, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA., Wheeler A; RTI International, Genomics and Translational Research Center, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA. acwheeler@rti.org.

Publikováno v: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Nov 25. Date of Electronic Publication: 2024 Nov 25.

The Impact of Pathologist Review on Peripheral Blood Smears: A College of American Pathologists Q-Probes Study of 22 Laboratories.

Autor: Nakashima MO; From the Department of Pathology and Laboratory Medicine, Cleveland Clinic Foundation, Cleveland, Ohio (Nakashima)., Coulter SN; Biostatistics, College of American Pathologists, Northfield, Illinois (Coulter, Blond)., Blond BJ; Biostatistics, College of American Pathologists, Northfield, Illinois (Coulter, Blond)., Brown RW; The Department of Pathology, Memorial Hermann Southwest Hospital, Houston, Texas (Brown)., Vos JA; Essentia Health, St Mary's Medical Center, Duluth, Minnesota (Vos).

Publikováno v: Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2024 Nov 11. Date of Electronic Publication: 2024 Nov 11.

Computational screening combined with well-tempered metadynamics simulations identifies potential TMPRSS2 inhibitors.

Autor: Sharanya CS; Transdisciplinary Biology, Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram, Kerala, India., Wilbee DS; Transdisciplinary Biology, Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram, Kerala, India.; College of Pharmaceutical Sciences, Government Medical College, Thiruvananthapuram, Kerala, India., Sathi SN; Bioinformatics Laboratory, Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram, Kerala, India., Natarajan K; Transdisciplinary Biology, Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram, Kerala, India. kathiresan@rgcb.res.in.

Publikováno v: Scientific reports [Sci Rep] 2024 Jul 13; Vol. 14 (1), pp. 16197. Date of Electronic Publication: 2024 Jul 13.

Developmental milestones and daily living skills in individuals with Angelman syndrome.

Autor: Sadhwani A; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Anjali.sadhwani@childrens.harvard.edu.; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA. Anjali.sadhwani@childrens.harvard.edu., Powers S; RTI International, Research Triangle Park, NC, USA.; Edmentum, Minneapolis, MN, USA., Wheeler A; RTI International, Research Triangle Park, NC, USA., Miller H; Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Aetna, Hartford, CT, USA., Potter SN; RTI International, Research Triangle Park, NC, USA., Peters SU; Vanderbilt University School of Medicine, Nashville, TN, USA., Bacino CA; Kleberg Genetics Clinic, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA., Wink LK; Division of Child Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.; Talkiatry Management Services, LLC, New York, USA., Erickson CA; Division of Child Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, USA., Bird LM; University of California San Diego and Rady Children's Hospital, San Diego, CA, USA., Tan WH; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, United States.

Publikováno v: Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Jun 15; Vol. 16 (1), pp. 32. Date of Electronic Publication: 2024 Jun 15.

Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

Autor: Potter SN; RTI International, 3040 E. Cornwallis Road, Research Triangle Park, NC 27709-2194, USA., Reynolds E; RTI International, Research Triangle Park, NC, USA., Okoniewski KC; RTI International, Research Triangle Park, NC, USA., Edwards A; RTI International, Research Triangle Park, NC, USA., Gable J; RTI International, Research Triangle Park, NC, USA., Hill C; RTI International, Research Triangle Park, NC, USA., Bakalov V; RTI International, Research Triangle Park, NC, USA., Zentz S; RTI International, Research Triangle Park, NC, USA., Whiting C; RTI International, Research Triangle Park, NC, USA., Cheves E; RTI International, Research Triangle Park, NC, USA., Garbarini K; Angelman Syndrome Foundation, Aurora, IL, USA.; Dup15q Alliance, Matthews, NC, USA., Jalazo E; Department of Pediatrics, The University of North Carolina School of Medicine, Chapel Hill, NC, USA., Howell C; Dup15q Alliance, Matthews, NC, USA., Moore A; Angelman Syndrome Foundation, Aurora, IL, USA., Wheeler A; RTI International, Research Triangle Park, NC, USA.

Publikováno v: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 May 27; Vol. 5, pp. 26330040241254122. Date of Electronic Publication: 2024 May 27 (Print Publication: 2024).