Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology

Epigenetic Etiology of Intellectual Disability

THE 59TH ANNUAL MEETING OF THE JAPANESE TERATOLOGY SOCIETY THE 13TH WORLD CONGRESS OF THE INTERNATIONAL CLEFT LIP AND PALATE FOUNDATION – CLEFT 2019‐ - 2019 - Congenital Anomalies - Wiley Online Library

SPR 2013 SpringerLink

Dr. Christine Pennesi, MD – Ann Arbor, MI

PDF) Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

PDF) Congenital Anomalies of the Kidney and Urinary Tract Clinical Implications in Children

Disorders of Sex Development - ScienceDirect

Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes - Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica, 2016

SPR 2013 SpringerLink

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting - Stevens - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

Articles in Press: Journal of Pediatric and Adolescent Gynecology

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Dima Qu'd's research works Cincinnati Children's Hospital Medical Center, Ohio (CCHMC) and other places

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes