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American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
Nature|February 5, 2025
Fungal impacts on Earth's ecosystemsNicola T Case, Sarah J Gurr, Matthew C Fisher, et al.
European Journal of Endocrinology|December 20, 2017
Psychosocial development in survivors of childhood differentiated thyroid carcinoma: a cross-sectional studyMarloes Nies, Bernadette L Dekker, Esther Sulkers, et al.
Nature Communications|August 24, 2022
Recent climate change has driven divergent hydrological shifts in high-latitude peatlandsHui Zhang, Minna Väliranta, Graeme T Swindles, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
Thyroid : Official Journal of the American Thyroid Association|February 22, 2020
Long-Term Effects of Radioiodine Treatment on Female Fertility in Survivors of Childhood Differentiated Thyroid CarcinomaMarloes Nies, Astrid E P Cantineau, Eus G J M Arts, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|April 10, 2026
Effective performance of the 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology classification criteria for Antineutrophil-Cytoplasmic-Antibody-Associated Vasculitis in Pediatric Patients: an ARChiVe StudyDavid A Cabral, Else S Bosman, Nick McPhate, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.
G3 (Bethesda, Md.)|September 30, 2022
The future of fungi: threats and opportunitiesNicola T Case, Judith Berman, David S Blehert, et al.
American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
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