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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and childrenGemma R Brett, Melissa Martyn, Fiona Lynch, et al.
Pathology|December 5, 2013
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, John C Mulley, et al.
Critical Care (London, England)|April 2, 2024
The management of heart failure cardiogenic shock: an international RAND appropriateness panelStefan Williams, Antonis Kalakoutas, Segun Olusanya, et al.
American Journal of Human Genetics|June 25, 2013
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeYoko Aoki, Tetsuya Niihori, Toshihiro Banjo, et al.
Nature Genetics|July 31, 2012
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisPei-Wen Chiang, Juan Wang, Yang Chen, et al.
NPJ Genomic Medicine|February 10, 2026
Semi-automated genomic newborn screening highlights complexities in reportingAyesha Chowdhury, Shashikanth Marri, Lucy Anastasi, et al.
Frontiers in Immunology|September 26, 2024
Alterations in the plasma proteome persist ten months after recovery from mild to moderate SARS-CoV-2 infectionJulio A Huapaya, Salina Gairhe, Shreya Kanth, et al.
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Human Molecular Genetics|June 25, 2021
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disordersEthiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, et al.
Health Research Policy and Systems|May 26, 2023
Meaningful coproduction with clinicians: establishing a practice-based research network with physiotherapists in regional AustraliaConnor Gleadhill, Christopher M Williams, Steven J Kamper, et al.
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