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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.
Am J Hum Genet. 2019.
PMID: 31079897
Free PMC article.
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
Mingo J, Rodríguez-Escudero I, Luna S, Fernández-Acero T, Amo L, Jonasson AR, Zori RT, López JI, Molina M, Cid VJ, Pulido R.
Mingo J, et al. Among authors: jonasson ar.
Eur J Hum Genet. 2018 Aug;26(8):1180-1187. doi: 10.1038/s41431-018-0155-x. Epub 2018 Apr 30.
Eur J Hum Genet. 2018.
PMID: 29706633
Free PMC article.
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Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine.
Stalker HJ, Jonasson AR, Hopfer SM, Collins MS.
Stalker HJ, et al. Among authors: jonasson ar.
Pediatr Pulmonol. 2023 Dec;58(12):3478-3486. doi: 10.1002/ppul.26678. Epub 2023 Sep 15.
Pediatr Pulmonol. 2023.
PMID: 37712603
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