1. A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. Issue 5 (3rd August 2017) Authors: Miyake, N.; Inaba, M.; Mizuno, S.; Shiina, M.; Imagawa, E.; Miyatake, S.; Nakashima, M.; Mizuguchi, T.; Takata, A.; Ogata, K.; Matsumoto, N. Journal: Clinical genetics Issue: Volume 92:Issue 5(2017) Page Start: 554 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome. Issue 4 (4th October 2017) Authors: Miyake, N.; Ozasa, S.; Mabe, H.; Kimura, S.; Shiina, M.; Imagawa, E.; Miyatake, S.; Nakashima, M.; Mizuguchi, T.; Takata, A.; Ogata, K.; Matsumoto, N. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 929 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. AKT3 and PIK3R2 mutations in two patients with megalencephaly‐related syndromes: MCAP and MPPH. (10th June 2013) Authors: Nakamura, K.; Kato, M.; Tohyama, J.; Shiohama, T.; Hayasaka, K.; Nishiyama, K.; Kodera, H.; Nakashima, M.; Tsurusaki, Y.; Miyake, N.; Matsumoto, N.; Saitsu, H. Journal: Clinical genetics Issue: Volume 85:Number 4(2014:Apr.) Page Start: 396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. (8th September 2014) Authors: Miyatake, S.; Tada, H.; Moriya, S.; Takanashi, J.; Hirano, Y.; Hayashi, M.; Oya, Y.; Nakashima, M.; Tsurusaki, Y.; Miyake, N.; Matsumoto, N.; Saitsu, H. Journal: Clinical genetics Issue: Volume 87:Number 4(2015:Apr.) Page Start: 395 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations. Issue 3 (10th June 2018) Authors: Okazaki, T.; Saito, Y.; Hayashida, T.; Akaboshi, S.; Miyake, N.; Matsumoto, N.; Kasagi, N.; Adachi, K.; Shinohara, Y.; Nanba, E.; Maegaki, Y. Journal: Clinical genetics Issue: Volume 94:Issue 3/4(2018) Page Start: 391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Coffin–Siris syndrome is a SWI/SNF complex disorder. (23rd July 2013) Authors: Tsurusaki, Y.; Okamoto, N.; Ohashi, H.; Mizuno, S.; Matsumoto, N.; Makita, Y.; Fukuda, M.; Isidor, B.; Perrier, J.; Aggarwal, S.; Dalal, A.B.; Al‐Kindy, A.; Liebelt, J.; Mowat, D.; Nakashima, M.; Saitsu, H.; Miyake, N.; Matsumoto, N. Journal: Clinical genetics Issue: Volume 85:Number 6(2014:Jun.) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Confirmation of SLC5A7‐related distal hereditary motor neuropathy 7 in a family outside Wales. Issue 2 (21st May 2018) Authors: Hamanaka, K.; Takahashi, K.; Miyatake, S.; Mitsuhashi, S.; Hamanoue, H.; Miyaji, Y.; Fukai, R.; Doi, H.; Fujita, A.; Imagawa, E.; Iwama, K.; Nakashima, M.; Mizuguchi, T.; Takata, A.; Miyake, N.; Takeuchi, H.; Tanaka, F.; Matsumoto, N. Journal: Clinical genetics Issue: Volume 94:Issue 2(2018) Page Start: 274 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. (29th April 2014) Authors: Nakajima, J.; Okamoto, N.; Tohyama, J.; Kato, M.; Arai, H.; Funahashi, O.; Tsurusaki, Y.; Nakashima, M.; Kawashima, H.; Saitsu, H.; Matsumoto, N.; Miyake, N. Journal: Clinical genetics Issue: Volume 87:Number 4(2015:Apr.) Page Start: 356 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations. Issue 1 (14th April 2015) Authors: Miyake, N.; Tsurusaki, Y.; Koshimizu, E.; Okamoto, N.; Kosho, T.; Brown, N.J.; Tan, T.Y.; Yap, P.J.J.; Suzumura, H.; Tanaka, T.; Nagai, T.; Nakashima, M.; Saitsu, H.; Niikawa, N.; Matsumoto, N. Journal: Clinical genetics Issue: Volume 89:Issue 1(2016) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Detection of copy number variations in epilepsy using exome data. Issue 3 (25th January 2018) Authors: Tsuchida, N.; Nakashima, M.; Kato, M.; Heyman, E.; Inui, T.; Haginoya, K.; Watanabe, S.; Chiyonobu, T.; Morimoto, M.; Ohta, M.; Kumakura, A.; Kubota, M.; Kumagai, Y.; Hamano, S.‐I.; Lourenco, C.M.; Yahaya, N.A.; Ch'ng, G.‐S.; Ngu, L.‐H.; Fattal‐Valevski, A.; Weisz Hubshman, M. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 577 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗