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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
The Evidence Aggregator: AI reasoning applied to rare disease diagnosticsHope Twede, Lynn Pais, Samantha Bryen, et al.
Nature Structural & Molecular Biology|July 13, 2010
Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoansRyan J Taft, Cas Simons, Satu Nahkuri, et al.
Developmental Cell|January 25, 2017
Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid TurnoverJessica E De Angelis, Anne K Lagendijk, Huijun Chen, et al.
Clinical Genetics|July 10, 2026
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome IntervalAngelo Condell, Elaine Zhang, Tim Sikora, et al.
Journal of the Peripheral Nervous System : JPNS|June 11, 2024
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicingBianca R Grosz, Jevin M Parmar, Melina Ellis, et al.
Human Molecular Genetics|October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypesJulian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Molecular Genetics and Metabolism|February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesSumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Brain Communications|February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformationsMatthew Coleman, Min Wang, Penny Snell, et al.
Human Mutation|March 4, 2020
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Molecular Genetics|September 8, 2021
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humansNicole J Van Bergen, Katrina M Bell, Kirsty Carey, et al.
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