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American Journal of Medical Genetics. Part A|March 8, 2021
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish populationRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
Biology of Sex Differences|January 14, 2016
Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male developmentMartin M Johansson, Elin Lundin, Xiaoyan Qian, et al.
Plos One|September 1, 2015
Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific HaplogroupsMartin M Johansson, Anneleen Van Geystelen, Maarten H D Larmuseau, et al.
American Journal of Medical Genetics. Part A|July 10, 2019
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two casesRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
Frontiers in Genetics|October 15, 2019
Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early DevelopmentMartin M Johansson, Philipp Pottmeier, Pascalina Suciu, et al.
BMC Genomics|November 13, 2012
Abundance of female-biased and paucity of male-biased somatically expressed genes on the mouse X-chromosomeBjörn Reinius, Martin M Johansson, Katarzyna J Radomska, et al.
Human Genome Variation|October 25, 2019
A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi JewsYoel Hirsch, David A Zeevi, Byron L Lam, et al.
JCI Insight|September 22, 2022
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndromeRie Asada Kitamura, Kristina G Maxwell, Wenjuan Ye, et al.
Pediatric Neurology|June 10, 2021
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating LeukodystrophyGuy Helman, Ayelet Zerem, Akshata Almad, et al.
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