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Frontiers in Endocrinology|November 3, 2025
First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case reportSumaiya Al-Rashdi, Lori Ekstrom, Aedin Collins, et al.
Clinical Epigenetics|July 2, 2021
DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot studyRichard S Lee, Sophia Q Song, Henri M Garrison-Desany, et al.
Prenatal Diagnosis|May 29, 2013
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracyCarole Samango-Sprouse, Milena Banjevic, Allison Ryan, et al.
CNS Spectrums|March 6, 2004
Outcome measures for clinical drug trials in autismMichael G Aman, Sherie Novotny, Carole Samango-Sprouse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2003
Klinefelter syndrome: expanding the phenotype and identifying new research directionsJoe Leigh Simpson, Felix de la Cruz, Ronald S Swerdloff, et al.
Cell Genomics|February 23, 2023
The human inactive X chromosome modulates expression of the active X chromosomeAdrianna K San Roman, Alexander K Godfrey, Helen Skaletsky, et al.
Cell Genomics|January 8, 2024
The human Y and inactive X chromosomes similarly modulate autosomal gene expressionAdrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
The human Y and inactive X chromosomes similarly modulate autosomal gene expressionAdrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, et al.
Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
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