Paper Review Records
All Paper Review Records
14 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
Associations of polygenic risk scores for type 2 diabetes with metabolic measures in Pacific Islanders from Guam and Saipan
AuthorsMaria J. Ramirez-Luzuriaga; Saied Safabakhsh; Rasol Salehi; Sayuko Kobes; Tanisha F. Aflague; Jenny Duenas Sarmiento; Joanne E. Curran; Robert G. Nelson; Jeffrey M. Curtis; Carol D. Moffett; Wen-Chi Hsueh; Robert L. Hanson
Affiliations1. Phoenix Epidemiology and Clinical Research Branch National Institute of Diabetes and Digestive and Kidney Diseases, Phoenix, USA; 2. Micronesian Institute for Disease Prevention and Research, Sinajana, Guam; 3. Pediatric Inherited Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; 4. South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville, USA; 5. Research Division, Joslin Diabetes Center, Boston, USA; 6. Division of Metabolism, Endocrinology and Nutrition, University of Washington, Seattle, USA
SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort
AuthorsGui-He Li; Li-Wen Wu; Jing Li; Sen-Wei Dong; Jing-Mei Hong; Ying-Xuan Xie; Yu-Hao Sun; Jin He; Ning Wang; Wan-Jin Chen; Hai-Zhu Chen
Affiliations1. Department of Neurology, the First Affiliated Hospital, Fujian Medical University, Fuzhou, China; 2. Department of Neurology, Hunan Children’s Hospital, Changsha, China; 3. Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, the First Affiliated Hospital of Sun Yat-sen University; Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases;, Guangzhou, China; 4. Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, China; 5. Fujian Institute of Neurology, the First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder
AuthorsAnil Kumar; Ajay Kumar; Chandraniv Dey; Arvinder Wander; Sudip Chakraborty; Anjana Munshi
Affiliations1. Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, India; 2. Department of Computational Sciences, Central University of Punjab, Bathinda, India; 3. Department of Pediatrics, All India Institute of Medical Sciences, Bathinda, India
Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort
AuthorsAlejandro Silva; Carolina Jaramillo Oquendo; Jaime E. Bernal; Julio Cesar Martinez; Andrew Collins; Ignacio Briceño; Escilda Benavides; Zulieth López Arrieta; Sarah Ennis
Affiliations1. Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK; 2. Grupo de Genética Humana, Facultad de Medicina—Universidad de La Sabana, Chía, Colombia; 3. Grupo Genoma—Facultad de Medicina, Universidad del Sinú, Cartagena, Colombia
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