1. A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders. Issue 2 (7th October 2021) Authors: Yamada, Mamiko; Suzuki, Hisato; Shima, Taiki; Uehara, Tomoko; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. Issue 4 (31st December 2020) Authors: Suzuki, Hisato; Inaba, Mie; Yamada, Mamiko; Uehara, Tomoko; Takenouchi, Toshiki; Mizuno, Seiji; Kosaki, Kenjiro; Doi, Motomichi Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features. Issue 12 (11th September 2019) Authors: Uehara, Tomoko; Tsuchihashi, Takatoshi; Yamada, Mamiko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 179:Issue 12(2019) Page Start: 2506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 179A, Number 6, June 2019. Issue 6 (29th April 2019) Authors: Yamada, Mamiko; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Yoshihashi, Hiroshi; Suzumura, Hiroshi; Mizuno, Seiji; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence. Issue 22 (18th June 2022) Authors: Suzuki, Hisato; Aoki, Kana; Kurosawa, Kenji; Imagawa, Kazuo; Ohto, Tatsuyuki; Yamada, Mamiko; Takenouchi, Toshiki; Kosaki, Kenjiro; Ishitani, Tohru Journal: Human molecular genetics Issue: Volume 31:Issue 22(2022) Page Start: 3846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments. Issue 24 (21st July 2022) Authors: Suzuki, Hisato; Li, Simo; Tokutomi, Tomoharu; Takeuchi, Chisen; Takahashi, Miyuki; Yamada, Mamiko; Okuno, Hironobu; Miya, Fuyuki; Takenouchi, Toshiki; Numabe, Hironao; Kosaki, Kenjiro; Ohshima, Toshio Journal: Human molecular genetics Issue: Volume 31:Issue 24(2022) Page Start: 4173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect. Issue 8 (14th May 2022) Authors: Yamada, Mamiko; Suzuki, Hisato; Miya, Fuyuki; Takenouchi, Toshiki; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 188:Issue 8(2022) Page Start: 2472 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities. Issue 9 (26th June 2020) Authors: Yamada, Mamiko; Shiraishi, Yuichi; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Abe‐Hatano, Chihiro; Kurosawa, Kenji; Kosaki, Kenjiro Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 9(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks. Issue 9 (19th February 2021) Authors: Yamada, Mamiko; Arimitsu, Takeshi; Osada, Asami; Kosaki, Kenjiro Other Names: Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 9(2021) Page Start: 2821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. Issue 6 (1st March 2021) Authors: Yamada, Mamiko; Ono, Masae; Ishii, Tomohiro; Suzuki, Hisato; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1836 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗