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Movement Disorders : Official Journal of the Movement Disorder Society|June 10, 2025
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1BTomer Poleg, Noam Hadar, Eyal Kristal, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|September 28, 2007
Progesterone vaginal gel for the reduction of recurrent preterm birth: primary results from a randomized, double-blind, placebo-controlled trialJ M O'Brien, C D Adair, D F Lewis, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|September 28, 2007
Vaginal progesterone is associated with a decrease in risk for early preterm birth and improved neonatal outcome in women with a short cervix: a secondary analysis from a randomized, double-blind, placebo-controlled trialE A DeFranco, J M O'Brien, C D Adair, et al.
American Journal of Human Genetics|November 3, 2018
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality DefectsSerge Bonnefoy, Christopher M Watson, Kristin D Kernohan, et al.
Blood|June 11, 2020
Germline TET2 loss of function causes childhood immunodeficiency and lymphomaJarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, et al.
Human Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.
Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Research Square|July 17, 2026
Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome functionLydia Green, Noémie Hamilton, Marilena Elpidorou, et al.
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