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Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.
Journal of Autoimmunity|July 9, 2016
A Child's HLA-DRB1 genotype increases maternal risk of systemic lupus erythematosusGiovanna I Cruz, Xiaorong Shao, Hong Quach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 4, 2015
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonatesDale L Bodian, Elisabeth Klein, Ramaswamy K Iyer, et al.
Pediatric Surgery International|May 15, 2012
Inheritance of the VATER/VACTERL associationEnrika Bartels, Ekkehart Jenetzky, Benjamin D Solomon, et al.
Nature Genetics|June 21, 2016
Parent-of-origin-specific signatures of de novo mutationsJakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2020
A systematic review of antibody mediated immunity to coronaviruses: antibody kinetics, correlates of protection, and association of antibody responses with severity of diseaseAngkana T Huang, Bernardo Garcia-Carreras, Matt D T Hitchings, et al.
Nature Genetics|October 7, 2018
Author Correction: Parent-of-origin-specific signatures of de novo mutationsJakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2021
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humansRenkui Bai, Hong Cui, Joseph M Devaney, et al.
Molecular Genetics and Metabolism|July 20, 2011
Personalized genomic medicine: lessons from the exomeBenjamin D Solomon, Daniel E Pineda-Alvarez, Donald W Hadley, et al.
Human Mutation|July 12, 2018
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signalingErich Roessler, Ping Hu, Juliana Marino, et al.
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