Automated urinary sediment detection for Fabry disease using deep-learning algorithms

Authors: Uryu, Hidetaka, Migita, Ohsuke, Ozawa, Minami, Kamijo, Chikako, Aoto, Saki, Okamura, Kohji, Hasegawa, Fuyuki, Okuyama, Torayuki, Kosuga, Motomichi, Hata, Kenichiro

Source: In Molecular Genetics and Metabolism Reports December 2022 33

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Authors: Taniguchi, Kosuke^1,2 (AUTHOR) taniguchi‐k@ncchd.go.jp, Hasegawa, Fuyuki³ (AUTHOR), Okazaki, Yuka^1,4 (AUTHOR), Hori, Asuka^1,5 (AUTHOR), Ogata‐Kawata, Hiroko¹ (AUTHOR), Aoto, Saki⁶ (AUTHOR), Migita, Ohsuke^1,7 (AUTHOR), Kawai, Tomoko¹ (AUTHOR), Nakabayashi, Kazuhiko¹ (AUTHOR), Okamura, Kohji⁸ (AUTHOR), Fukui, Kana⁴ (AUTHOR), Wada, Seiji⁴ (AUTHOR), Ozawa, Katsusuke⁴ (AUTHOR), Ito, Yushi⁴ (AUTHOR), Sago, Haruhiko⁴ (AUTHOR), Hata, Kenichiro^1,2 (AUTHOR) khata@gunma‐u.ac.jp

Source: Molecular Genetics & Genomic Medicine. Mar2025, Vol. 13 Issue 3, p1-10. 10p.

Subject Terms: *HUMAN abnormalities, *CONGENITAL disorders, *PHENOTYPES, *DIAGNOSIS, *GENES

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Authors: Kanai, Yu, Takahashi, Hironori, Hasegawa, Fuyuki, Hori, Asuka, Suzuki, Hisato, Takahashi, Shoko, Fukushima, Hiroko, Takada, Hidetoshi, Horie, Kenji, Ozawa, Katsunori, Furukawa, Rieko, Kosaki, Kenjiro, Hata, Kenichiro

Source: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-7, 7p

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Authors: Masuda, Layla, Hasegawa, Akihiro, Kamura, Hiromi, Hasegawa, Fuyuki, Yamamura, Michihiro, Taniguchi, Kosuke, Ito, Yuki, Hata, Kenichiro, Samura, Osamu, Okamoto, Aikou

Source: Human Genome Variation; 8/26/2024, Vol. 11 Issue 1, p1-4, 4p

Subject Terms: SPINAL muscular atrophy, MISSENSE mutation, ARTHROGRYPOSIS, GENETICS, PHENOTYPES

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.

Authors: Nagayama, Shiho, Takahashi, Hironori, Hasegawa, Fuyuki, Hori, Asuka, Kizami, Sho, Furukawa, Rieko, Horie, Kenji, Ogoyama, Manabu, Hata, Kenichiro, Fujiwara, Hiroyuki

Source: Congenital Anomalies; Jul2024, Vol. 64 Issue 4, p177-181, 5p

Subject Terms: DYSPLASIA, PHENOTYPES, GENETIC variation, UMBILICAL cord, SKELETAL dysplasia

Clinical features of fetal hydrothorax associated with mucopolysaccharidosis‐VII.

Authors: Kamihara, Yuki, Ozawa, Katsusuke, Muromoto, Jin, Sugibayashi, Rika, Wada, Seiji, Shibata, Yuka, Hori, Asuka, Hasegawa, Fuyuki, Hata, Kenichiro, Sago, Haruhiko

Source: Journal of Obstetrics & Gynaecology Research; Oct2023, Vol. 49 Issue 10, p2538-2543, 6p

Subject Terms: DIAGNOSIS of fetal diseases, PLEURAL effusions, GESTATIONAL age, LYSOSOMAL storage diseases, ASCITES, PREGNANCY outcomes, CASE studies, INBORN errors of metabolism, PLEURA diseases, GYNECOLOGIC care, HYDROPS fetalis, SKIN abnormalities, PHENOTYPES

Multisite assessment of the impact of a prenatal testing educational App on patient knowledge and preparedness for prenatal testing decision making.

Authors: Winters, Patricia, Curnow, Kirsten J., Benachi, Alexandra, Gil, Maria Mar, Santacruz, Belen, Nishiyama, Miyuki, Hasegawa, Fuyuki, Sago, Haruhiko

Source: Journal of Community Genetics; Aug2022, Vol. 13 Issue 4, p435-444, 10p

Highly sensitive measurement in two-photon absorption cross section and investigation of the mechanism of two-photon-induced polymerization

Authors: Lu, Youmei ^*, Hasegawa, Fuyuki, Goto, Takamichi, Ohkuma, Satoshi, Fukuhara, Setsuko, Kawazu, Yukie, Totani, Kenro, Yamashita, Takashi, Watanabe, Toshiyuki ^∗

Source: In Journal of Luminescence 2004 110(1):1-10

Collection of 2429 constrained headshots of 277 volunteers for deep learning.

Authors: Aoto, Saki, Hangai, Mayumi, Ueno-Yokohata, Hitomi, Ueda, Aki, Igarashi, Maki, Ito, Yoshikazu, Tsukamoto, Motoko, Jinno, Tomoko, Sakamoto, Mika, Okazaki, Yuka, Hasegawa, Fuyuki, Ogata-Kawata, Hiroko, Namura, Saki, Kojima, Kazuaki, Kikuya, Masao, Matsubara, Keiko, Taniguchi, Kosuke, Okamura, Kohji

Source: Scientific Reports; 3/8/2022, Vol. 12 Issue 1, p1-10, 10p

Subject Terms: DEEP learning, CONVOLUTIONAL neural networks, PHOTOGRAPH collections, IMAGE recognition (Computer vision), VOLUNTEERS, VECTOR data

Confined placental mosaicism of trisomy 6 detected through genome‐wide NIPT was associated with placental abruption.

Authors: Nishiyama, Miyuki, Wada, Seiji, Hasegawa, Fuyuki, Uehara, Yohji, Ozaki, Mamoru, Hata, Kenichiro, Ito, Yushi, Sago, Haruhiko

Source: Clinical Case Reports; Dec2021, Vol. 9 Issue 12, p1-4, 4p

Subject Terms: ABRUPTIO placentae, TRISOMY, MOSAICISM, PLACENTA, PREGNANCY complications

A novel FLNA variant in a fetus with skeletal dysplasia.

Authors: Oshina, Kyoko, Kamei, Yoshimasa, Hori, Asuka, Hasegawa, Fuyuki, Taniguchi, Kosuke, Migita, Ohsuke, Itakura, Atsuo, Hata, Kenichiro

Source: Human Genome Variation; 12/13/2022, p1-3, 3p

Subject Terms: SKELETAL dysplasia, DYSPLASIA, FETUS, MISCARRIAGE

Awareness of paternal age effect disorders among Japanese pregnant women: implications for prenatal genetic counseling for advanced paternal age.

Authors: Nishiyama, Miyuki, Ogawa, Kohei, Hasegawa, Fuyuki, Sasaki, Aiko, Akaishi, Rina, Wada, Seiji, Sago, Haruhiko

Source: Journal of Community Genetics; Oct2021, Vol. 12 Issue 4, p671-678, 8p

Pregnant women’s opinions toward prenatal pretest genetic counseling in Japan

Authors: Nishiyama, Miyuki, Ogawa, Kohei, Hasegawa, Fuyuki, Sekido, Yuki, Sasaki, Aiko, Akaishi, Rina, Tachibana, Yoshiyuki, Umehara, Nagayoshi, Wada, Seiji, Ozawa, Nobuaki, Sago, Haruhiko

Source: Journal of Human Genetics; July 2021, Vol. 66 Issue: 7 p659-669, 11p

Investigation of mechanism of photo induced polymerization excited by two-photon absorption.

Authors: Yumei Lu, Hasegawa, Fuyuki, Kawazu, Yukie, Totani, Kenro, Yamashita, Tukashi, Toshiyuki, Watanabe

Source: Journal of the Society of Fiber Science & Technology, Japan / Sen'i Gakkaishi; 2004, Vol. 60 Issue 6, p165-172, 8p, 6 Black and White Photographs, 3 Diagrams, 2 Charts, 3 Graphs

Highly efficient two-photon initiated polymerization in solvent by using a novel two-photon chromophore and co-initiators

Authors: Lu, Youmei, Hasegawa, Fuyuki, Ohkuma, Satoshi, Goto, Takamichi, Fukuhara, Setsuko, Kawazu, Yukie, Totani, Kenro, Yamashita, Takashi, Watanabe, Toshiyuki

Source: Journal of Materials Chemistry; 2004, Vol. 14 Issue: 9 p1391-1395, 5p

Highly sensitive two-photon chromophores applied to three-dimensional lithographic microfabrication: design, synthesis and characterization towards two-photon absorption cross section

Authors: Lu, Youmei, Hasegawa, Fuyuki, Goto, Takamichi, Ohkuma, Satoshi, Fukuhara, Setsuko, Kawazu, Yukie, Totani, Kenro, Yamashita, Takashi, Watanabe, Toshiyuki

Source: Journal of Materials Chemistry; 2003, Vol. 14 Issue: 1 p75-80, 6p