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American Journal of Medical Genetics. Part A|September 21, 2020
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndromeK Taylor Wild, Tia Gordon, Elizabeth J Bhoj, et al.
American Journal of Medical Genetics. Part A|June 26, 2015
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndromeElizabeth J Bhoj, Dong Li, Margaret H Harr, et al.
American Journal of Medical Genetics. Part A|February 16, 2018
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomaliesHailey Pinz, Louise C Pyle, Dong Li, et al.
American Journal of Medical Genetics. Part A|March 8, 2021
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathiesDena R Matalon, David A Stevenson, Elizabeth J Bhoj, et al.
European Journal of Human Genetics : EJHG|June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndromeDong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
American Journal of Medical Genetics. Part A|July 15, 2024
Expanding the clinical phenotype and variant spectrum associated with RFX7Talia Sisroe, Attila Dos Santos, Alyssa L Rippert, et al.
Molecular Genetics & Genomic Medicine|September 23, 2022
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individualMary Maj, Christie L Taylor, Kevin Landau, et al.
Molecular Genetics & Genomic Medicine|February 21, 2022
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delayGiavanna Verdi, Dong Li, Sarah H Elsea, et al.
Biorxiv : the Preprint Server for Biology|September 10, 2024
A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental syndrome demonstrates the role of histone H3.3 in neuronal differentiation and maturationAnnabel K Sangree, Rajesh Angireddy, Laura M Bryant, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 11, 2008
MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virusVijay G Bhoj, Qinmiao Sun, Elizabeth J Bhoj, et al.
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