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Proceedings of the National Academy of Sciences of the United States of America|October 29, 2003
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like featuresErich Roessler, Yang-Zhu Du, Jose L Mullor, et al.
American Journal of Human Genetics|July 4, 2020
Management of Secondary Genomic FindingsAlexander E Katz, Robert L Nussbaum, Benjamin D Solomon, et al.
Nature Genetics|November 16, 2002
Cbfbeta interacts with Runx2 and has a critical role in bone developmentMondira Kundu, Amjad Javed, Jae-Pil Jeon, et al.
American Journal of Human Genetics|June 10, 2008
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephalyErich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, et al.
Frontiers in Genetics|April 28, 2022
Neural Networks for Classification and Image Generation of Aging in Genetic SyndromesDat Duong, Ping Hu, Cedrik Tekendo-Ngongang, et al.
Medrxiv : the Preprint Server for Health Sciences|May 9, 2025
Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforceAmanda M Berkstresser, Suzanna E Ledgister Hanchard, Daniela Iacaboni, et al.
American Journal of Human Genetics|August 15, 2024
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditionsKendall A Flaharty, Ping Hu, Suzanna Ledgister Hanchard, et al.
Frontiers in Immunology|May 14, 2023
Prediction of HLA genotypes from single-cell transcriptome dataBenjamin D Solomon, Hong Zheng, Laura W Dillon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2026
Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforceAmanda M Berkstresser, Suzanna E Ledgister Hanchard, Daniela Iacaboni, et al.
Congenital Anomalies|July 4, 2017
SIX3 deletions and incomplete penetrance in families affected by holoprosencephalyBethany Stokes, Seth I Berger, Beth A Hall, et al.
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