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Clinical Genetics|February 9, 2017
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cystsKazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, et al.
American Journal of Human Genetics|March 12, 2021
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Jan Hoeber, Jens Schuster, et al.
American Journal of Human Genetics|January 4, 2011
SMOC1 is essential for ocular and limb development in humans and miceIppei Okada, Haruka Hamanoue, Koji Terada, et al.
Annals of Neurology|August 22, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with LeukoencephalopathyMasaki Okubo, Hiroshi Doi, Ryoko Fukai, et al.
Annals of Neurology|November 10, 2018
Biallelic COLGALT1 variants are associated with cerebral small vessel diseaseSatoko Miyatake, Sacha Schneeberger, Norihisa Koyama, et al.
Clinical Genetics|March 28, 2022
De novo heterozygous variants in KIF5B cause kyphomelic dysplasiaToshiyuki Itai, Zheng Wang, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A|August 4, 2021
Expanding the KIF4A-associated phenotypeSilvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
NPJ Genomic Medicine|October 26, 2022
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencingSatoko Miyatake, Eriko Koshimizu, Atsushi Fujita, et al.
American Journal of Medical Genetics. Part A|May 3, 2013
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literatureTomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, et al.
Human Genetics|May 3, 2022
Monogenic causes of pigmentary mosaicismKen Saida, Pin Fee Chong, Asuka Yamaguchi, et al.
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