Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir et autres
2 citationsThe American Journal of Human Genetics
Brenda J. Barry
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68Publications signalées
5255Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesRNA modifications and cancerCraniofacial Disorders and TreatmentsGenomics and Rare Diseases
Publications récentes
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan, Yulia Mostovoy, Sarah L. Stenton, Vijay S Ganesh et autres
1 citationmedRxiv
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders
Konstantinia Almpani, Kate Devine, Denise K. Liberton, Rashmi Mishra et autres
0 citationsThe Cleft Palate-Craniofacial Journal
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
Julie A. Jurgens, Paola M. Matos Ruiz, Jessica King, Emma E. Foster et autres
2 citationsPubMed
Systematic phenotype and genotype characterization of Moebius syndrome
Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang et autres
1 citationGenetics in Medicine Open
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai‐Man Chan et autres
11 citationsNature Communications
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays
Julie A. Jurgens, Paola M. Matos Ruiz, Jessica King, Emma E. Foster et autres
2 citationsbioRxiv (Cold Spring Harbor Laboratory)
Beneath HMGA2 alterations in pleomorphic adenomas: Pathological, immunohistochemical, and molecular insights
Ziyad Alsugair, Charles Lépine, Françoise Descôtes, Marie‐Delphine Lanic et autres
10 citationsHuman Pathology
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A. Jurgens, Brenda J. Barry, Wai‐Man Chan, Sarah MacKinnon et autres
17 citationsGenetics in Medicine
Understanding Patients’ Current Acceptability of Artificial Intelligence During Colonoscopy for Polyp Detection: A Single Center Study
K. Schmidt, Siddharth Sood, Saam Dilmaghani, Mayank Goyal et autres
0 citationsEndoscopy
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A. Jurgens, Brenda J. Barry, Wai‐Man Chan, Sarah MacKinnon et autres
2 citationsmedRxiv
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
François Lecoquierre, A. Mattijs Punt, Frédéric Ebstein, Ilse Wallaard et autres
7 citationsGenetics in Medicine
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