1. "Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome" Am J Med Genet. 161:518–526, 2013. Issue 10 (17th September 2013) Authors: Narumi, Yoko; Min, Byung‐Joo; Shimizu, Kenji; Kazukawa, Itsuro; Sameshima, Kiyoko; Nakamura, Koichi; Kosho, Tomoki; Rhee, Yumie; Chung, Yoon‐Sok; Kim, Ok‐Hwa; Fukushima, Yoshimitsu; Park, Woong‐Yang; Nishimura, Gen Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay. Issue 4 (23rd January 2014) Authors: Fukai, Ryoko; Hiraki, Yoko; Nishimura, Gen; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Matsumoto, Naomichi; Miyake, Noriko Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 1021 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1. Issue 9 (24th June 2010) Authors: Cho, Tae-Joon; Kim, Ok-Hwa; Choi, In Ho; Nishimura, Gen; Superti-Furga, Andrea; Kim, Kang Suhp; Lee, Young-Ju; Park, Woong-Yang Journal: Journal of medical genetics Issue: Volume 47:Issue 9(2010) Page Start: 638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Issue 4 (12th February 2017) Authors: Takagi, Masaki; Dobashi, Kazushige; Nagahara, Keiko; Kato, Mitsuhiro; Nishimura, Gen; Fukuzawa, Ryuji; Narumi, Satoshi; Hasegawa, Tomonobu Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1071 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia. Issue 6 (11th April 2019) Authors: Kuroda, Yukiko; Murakami, Hiroaki; Enomoto, Yumi; Tsurusaki, Yoshinori; Takahashi, Kazumi; Mitsuzuka, Kanako; Ishimoto, Hitoshi; Nishimura, Gen; Kurosawa, Kenji Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. Issue 9 (29th June 2016) Authors: Moosa, Shahida; Fano, Virginia; Obregon, Maria Gabriela; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Nishimura, Gen; Wollnik, Bernd Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2436 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. (30th June 2015) Authors: Takagi, Masaki; Kouwaki, Masanori; Kawase, Koya; Shinohara, Hiroyuki; Hasegawa, Yukihiro; Yamada, Takahiro; Fujiwara, Ikuma; Sawai, Hideaki; Nishimura, Gen; Hasegawa, Tomonobu Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2851 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. Issue 10 (16th August 2013) Authors: Matsushita, Masaki; Kitoh, Hiroshi; Kaneko, Hiroshi; Mishima, Kenichi; Kadono, Izumi; Ishiguro, Naoki; Nishimura, Gen Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2528 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. Issue 12 (December 2018) Authors: Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. Issue 12 (December 2018) Authors: Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗