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Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

Crossref DOI link: https://doi.org/10.1186/s13148-021-01192-5

Published Online: 2021-11-13

Published Print: 2021-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Fukuda, Hiromi

Yamaguchi, Daisuke

Nyquist, Kristofor

Yabuki, Yasushi

Miyatake, Satoko

Uchiyama, Yuri

Hamanaka, Kohei

Saida, Ken

Koshimizu, Eriko

Tsuchida, Naomi

Fujita, Atsushi

Mitsuhashi, Satomi

Ohbo, Kazuyuki

Satake, Yuki

Sone, Jun

Doi, Hiroshi

Morihara, Keisuke

Okamoto, Tomoko

Takahashi, Yuji

Wenger, Aaron M.

Shioda, Norifumi

Tanaka, Fumiaki

Matsumoto, Naomichi

Mizuguchi, Takeshi https://orcid.org/0000-0003-4998-1244
Funding

Funding for this research was provided by:

Japan Agency for Medical Research and Development (JP20ek0109425, JP21ek0109486, JP21ek0109549, JP21cm0106503, JP21ek0109493)

Japan Society for the Promotion of Science (JP20K07907, JP21k15097, JP21K06579, JP20K16932, JP21K07869, JP20K17428, JP20K17936, JP19K07977, JP19H03577, JP18K07503, JP20K08164)

MHLW Policy Planning and Evaluation for Rare and Intractable Diseases Program (JPMH19189624)

Takeda Science Foundation

Grant for Strategic Research Promotion from Yokohama City University (#SK2804)
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Version of Record valid from 2021-11-13
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Article History

Received: 1 September 2021

Accepted: 27 October 2021

First Online: 13 November 2021

Declarations

:

: This study was approved by the Institutional Review Board of Yokohama City University School of Medicine. Written informed consent for inclusion in the study was obtained from all participants.

: We have obtained written informed consent for publication of clinical details of the patients.

: K.N. and A.M.W. are employees of Pacific Biosciences.

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