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American Journal of Medical Genetics. Part A|September 14, 2023
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CABede N Nriagu, Lydia S Williams, Niambi Brewer, et al.American Journal of Medical Genetics. Part A|August 8, 2023
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex developmentSamin A Sajan, Carolyn M Brown, Laura Davis-Keppen, et al.American Journal of Medical Genetics. Part A|August 9, 2023
A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresiaAyako Chida-Nagai, Hidefumi Tonoki, Naomasa Makita, et al.American Journal of Medical Genetics. Part A|August 7, 2023
Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMIDAjay S Koti, Aviya Lanis, Samuel Finlayson, et al.American Journal of Medical Genetics. Part A|August 2, 2023
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature reviewHeng Wang, Gechong Ruan, Shan Yang, et al.American Journal of Medical Genetics. Part A|August 24, 2023
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutationOfek Freund, Baker Elsana, Nadav Agam, et al.American Journal of Medical Genetics. Part A|August 14, 2023
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime CanadaOlivia McKee-Muir, Sarah Dyack, Monique Taillon, et al.American Journal of Medical Genetics. Part A|October 12, 2023
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS RegistryRoopa Kanakatti Shankar, Alexandra Carl, Jennifer R Law, et al.American Journal of Medical Genetics. Part A|October 12, 2023
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling sessionKatharine Cardiff, Lindsey Alico Ecker, Jehannine AustinAmerican Journal of Medical Genetics. Part A|October 12, 2023
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillanceAdriana Gomes, Laura Forero Zapata, Carolina I Galarreta, et al.Pageof 928