American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Adding fuel to the fire: How childhood and adolescent histories of interparental conflict amplify sleep problems during the transition to emerging adulthood. [PDF]
Child DevThompson MJ +3 more
europepmc +1 more source
Mentalizing and Attachment From Infancy to Young Adulthood: Insights From the Metera Adoption Study. [PDF]
Personal Ment HealthZournatzidis P +4 more
europepmc +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Corrigendum to "Assessing sexual health literacy among Thai female adolescents in non-formal education: A mixed-methods study" [Belitung Nursing Journal, 2025; 11(3): 340-348]. [PDF]
Belitung Nurs JNarkbubpha R +3 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
The role of peer influence in shaping developmental trajectories of substance use expectancies in early adolescence. [PDF]
Psychol Addict BehavDong Y, Oshri A, Geier C, Koss KJ.
europepmc +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
It's not just what you have, but when: The role and timing of developmental assets in the mental health of young adults. [PDF]
J Res AdolescMorneau-Vaillancourt G +8 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source