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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2017
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, et al.
Blood|April 20, 2021
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulationOttavia M Delmonte, Jenna R E Bergerson, Tomoki Kawai, et al.
The Journal of Allergy and Clinical Immunology|February 22, 2026
Clinical relevance of mosaic variants detected by exome sequencingRajarshi Ghosh, Zeeshan Fazal, Andrew J Oler, et al.
Blood|January 29, 2021
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of functionJahnavi Aluri, Alicia Bach, Saara Kaviany, et al.
Iscience|May 21, 2026
Application of spatial transcriptomics across organoids for a high-resolution, spatial whole-transcriptome benchmarking datasetMaria Rosaria Nucera, Natalie Charitakis, Ryan F Leung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in DDX3X - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
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