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JAMA Neurology|September 30, 2014
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findingsPankaj B Agrawal, Mugdha Joshi, Nicholas S Marinakis, et al.
NPJ Genomic Medicine|March 6, 2023
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestationsFrances O Flanagan, Alexander M Holtz, Sara O Vargas, et al.
European Journal of Human Genetics : EJHG|January 23, 2023
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disordersQifei Li, Rohan Agrawal, Klaus Schmitz-Abe, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
Scientific Reports|August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorderKlaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.
Plos Genetics|February 2, 2019
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulationAmy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, et al.
American Journal of Medical Genetics. Part A|August 29, 2018
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophyMonica H Wojcik, Kyoko Okada, Sanjay P Prabhu, et al.
Frontiers in Immunology|December 5, 2025
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosisAsena Pinar Sefer, Mehmet Cihangir Catak, Isa An, et al.
European Journal of Human Genetics : EJHG|April 14, 2019
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomesKlaus Schmitz-Abe, Qifei Li, Samantha M Rosen, et al.
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