"Hum Genome Var"[ Journal] - Search Results

Year	Number of Results
2014	20
2015	46
2016	41
2017	47
2018	50
2019	56
2020	45
2021	46
2022	48
2023	30
2024	19

1

Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis.

Aziz NA, Musa NH, Mathews M, Rajenderan KT, Abdul Hamid FS, Hassan S, Omar SL, Wan Yusoff WNAB, Mohd Din MLB, Jamaludin NAB, Wan Taib WR, Esa E, Mohd Yasin N. Aziz NA, et al. Hum Genome Var. 2024 Apr 23;11(1):19. doi: 10.1038/s41439-024-00275-y. Hum Genome Var. 2024. PMID: 38653961 Free PMC article.

2

Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data.

Kosugi S, Terao C. Kosugi S, et al. Hum Genome Var. 2024 Apr 17;11(1):18. doi: 10.1038/s41439-024-00276-x. Hum Genome Var. 2024. PMID: 38632226 Free PMC article.

3

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.

Tanabe H, Ijiri M, Takahashi K, Sasagawa H, Kamanaka T, Kuroda S, Sato H, Sarashina T, Mizukami Y, Makita Y, Okumura T. Tanabe H, et al. Hum Genome Var. 2024 Mar 29;11(1):13. doi: 10.1038/s41439-024-00270-3. Hum Genome Var. 2024. PMID: 38548799 Free PMC article.

4

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant.

Inagaki N, Okano T, Kobayashi M, Fujii M, Yazaki Y, Takei Y, Kosuge H, Suzuki S, Hayashi T, Kuroda M, Satomi K. Inagaki N, et al. Hum Genome Var. 2024 Mar 29;11(1):14. doi: 10.1038/s41439-024-00272-1. Hum Genome Var. 2024. PMID: 38548731 Free PMC article.

5

End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.

Hanafusa H, Yamaguchi H, Morisada N, Ye MJ, Matsumoto R, Nagase H, Nozu K. Hanafusa H, et al. Hum Genome Var. 2024 Mar 28;11(1):17. doi: 10.1038/s41439-024-00273-0. Hum Genome Var. 2024. PMID: 38548773 Free PMC article.

6

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.

Nakamura S, Ibi K, Tanaka H, Takami H, Okada K, Takasugi N, Kato M, Takahashi N, Inoue T. Nakamura S, et al. Hum Genome Var. 2024 Mar 28;11(1):16. doi: 10.1038/s41439-024-00274-z. Hum Genome Var. 2024. PMID: 38548746 Free PMC article.

7

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.

Nakatani N, Tamura A, Hanafusa H, Nino N, Yamamoto N, Awano H, Tanaka Y, Morisada N, Uemura S, Saito A, Hasegawa D, Nozu K, Kosaka Y. Nakatani N, et al. Hum Genome Var. 2024 Mar 22;11(1):15. doi: 10.1038/s41439-024-00271-2. Hum Genome Var. 2024. PMID: 38514645 Free PMC article.

8

A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome.

Azizi H, Bonyadi M, Rafat A. Azizi H, et al. Hum Genome Var. 2024 Mar 22;11(1):12. doi: 10.1038/s41439-024-00269-w. Hum Genome Var. 2024. PMID: 38514630 Free PMC article. No abstract available.

9

BARD1 deletion in a patient with suspected hereditary colorectal cancer.

Takaiso N, Imoto I, Yoshimura A, Ouchi A, Komori K, Iwata H, Shimizu Y. Takaiso N, et al. Hum Genome Var. 2024 Mar 15;11(1):11. doi: 10.1038/s41439-024-00267-y. Hum Genome Var. 2024. PMID: 38485918 Free PMC article.

10

A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins.

Kishio N, Iwama K, Nakanishi S, Shindo R, Yasui M, Nicho N, Takahashi A, Kohara M, Hirata M, Kemmotsu T, Tanoshima M, Ito S. Kishio N, et al. Hum Genome Var. 2024 Feb 29;11(1):10. doi: 10.1038/s41439-024-00266-z. Hum Genome Var. 2024. PMID: 38424113 Free PMC article.

11

Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient.

Takada R, Tozawa T, Yamanaka T, Moroto M, Iehara T, Chiyonobu T. Takada R, et al. Hum Genome Var. 2024 Feb 26;11(1):9. doi: 10.1038/s41439-024-00268-x. Hum Genome Var. 2024. PMID: 38409073 Free PMC article.

12

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

Nyuzuki H, Ozawa J, Nagasaki K, Nishio Y, Ogi T, Tohyama J, Ikeuchi T. Nyuzuki H, et al. Hum Genome Var. 2024 Feb 22;11(1):8. doi: 10.1038/s41439-024-00265-0. Hum Genome Var. 2024. PMID: 38383446 Free PMC article.

13

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly.

Nakama M, Miwa Y, Manabe S, Shimamoto S, Ohnishi H. Nakama M, et al. Hum Genome Var. 2024 Feb 8;11(1):7. doi: 10.1038/s41439-024-00264-1. Hum Genome Var. 2024. PMID: 38326314 Free PMC article.

14

Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber's hereditary optic neuropathy (LHON).

Nair AP, Selvakumar A, Gopalarethinam J, Abishek Kumar B, Vellingiri B, Subramaniam MD. Nair AP, et al. Hum Genome Var. 2024 Jan 25;11(1):6. doi: 10.1038/s41439-023-00258-5. Hum Genome Var. 2024. PMID: 38272864 Free PMC article.

15

A recurrent synonymous L1CAM variant in a fetus with hydrocephalus.

Šubrt I, Zavoral T, Strych L, Černá M, Hejnalová M, Komrsková P, Tejcová J. Šubrt I, et al. Hum Genome Var. 2024 Jan 23;11(1):4. doi: 10.1038/s41439-024-00263-2. Hum Genome Var. 2024. PMID: 38263409 Free PMC article.

16

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

Ando M, Aoki Y, Sano Y, Adachi J, Sana M, Miyabe S, Watanabe S, Hasegawa S, Miyachi H, Machida J, Goto M, Tokita Y. Ando M, et al. Hum Genome Var. 2024 Jan 23;11(1):5. doi: 10.1038/s41439-023-00259-4. Hum Genome Var. 2024. PMID: 38263268 Free PMC article.

17

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.

Miura S, Watanabe E, Senzaki K, Hiruki S, Matsumoto S, Morikawa T, Uchiyama Y, Kurata S, Ochi M, Ohyagi Y, Shibata H. Miura S, et al. Hum Genome Var. 2024 Jan 15;11(1):3. doi: 10.1038/s41439-023-00261-w. Hum Genome Var. 2024. PMID: 38221525 Free PMC article.

18

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.

Shimomura R, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Ishigaki K, Nagata S, Asano Y, Yamamoto T. Shimomura R, et al. Hum Genome Var. 2024 Jan 15;11(1):2. doi: 10.1038/s41439-023-00262-9. Hum Genome Var. 2024. PMID: 38221519 Free PMC article.

19

A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.

Tokunaga S, Shimomura H, Taniguchi N, Yanagi K, Kaname T, Okamoto N, Takeshima Y. Tokunaga S, et al. Hum Genome Var. 2024 Jan 5;11(1):1. doi: 10.1038/s41439-023-00260-x. Hum Genome Var. 2024. PMID: 38182567 Free PMC article.

20

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.

Watanabe K, Kubota K, Nakashima M, Saitsu H. Watanabe K, et al. Hum Genome Var. 2023 Nov 22;10(1):30. doi: 10.1038/s41439-023-00256-7. Hum Genome Var. 2023. PMID: 37993422 Free PMC article.

21

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy.

Niida Y, Kobayashi A, Togi S, Ura H. Niida Y, et al. Hum Genome Var. 2023 Nov 20;10(1):29. doi: 10.1038/s41439-023-00257-6. Hum Genome Var. 2023. PMID: 37985760 Free PMC article.

22

Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.

Sonoyama T, Ishino T, Ogawa Y, Oda T, Takeno S. Sonoyama T, et al. Hum Genome Var. 2023 Nov 15;10(1):28. doi: 10.1038/s41439-023-00249-6. Hum Genome Var. 2023. PMID: 37968561 Free PMC article. No abstract available.

23

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.

Moriwaki T, Masuno M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Takao K, Tawa K, Yamanouchi Y, Miki A, Otomo T. Moriwaki T, et al. Hum Genome Var. 2023 Oct 16;10(1):27. doi: 10.1038/s41439-023-00255-8. Hum Genome Var. 2023. PMID: 37845262 Free PMC article.

24

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report.

Mashayekhi P, Omrani MD, Tonekaboni SH, Dehghanifard A. Mashayekhi P, et al. Hum Genome Var. 2023 Sep 26;10(1):26. doi: 10.1038/s41439-023-00254-9. Hum Genome Var. 2023. PMID: 37752108 Free PMC article.

25

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.

Kodama Y, Meiri S, Asada T, Matsuyama M, Makino S, Iwai M, Yamaguchi M, Moritake H. Kodama Y, et al. Hum Genome Var. 2023 Sep 11;10(1):25. doi: 10.1038/s41439-023-00252-x. Hum Genome Var. 2023. PMID: 37696855 Free PMC article.

26

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.

Fujimoto HM, Fujimoto M, Sugiura T, Nakane S, Wakano Y, Sato E, Oshita H, Togawa Y, Sugimoto M, Kato T, Yasuda K, Muramatsu K, Saitoh S. Fujimoto HM, et al. Hum Genome Var. 2023 Sep 6;10(1):24. doi: 10.1038/s41439-023-00253-w. Hum Genome Var. 2023. PMID: 37673875 Free PMC article.

27

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.

Taura Y, Tozawa T, Isoda K, Hirai S, Chiyonobu T, Yano N, Hayashi T, Yoshida T, Iehara T. Taura Y, et al. Hum Genome Var. 2023 Aug 22;10(1):23. doi: 10.1038/s41439-023-00251-y. Hum Genome Var. 2023. PMID: 37604814 Free PMC article.

28

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.

Shimojima Yamamoto K, Yoshimura A, Yamamoto T. Shimojima Yamamoto K, et al. Hum Genome Var. 2023 Aug 7;10(1):22. doi: 10.1038/s41439-023-00250-z. Hum Genome Var. 2023. PMID: 37550298 Free PMC article.

29

X-linked intellectual disability related to a novel variant of KLHL15.

Kido J, Egami K, Misumi Y, Sugawara K, Tsuchida N, Matsumoto N, Ueda M, Nakamura K. Kido J, et al. Hum Genome Var. 2023 Jul 14;10(1):21. doi: 10.1038/s41439-023-00248-7. Hum Genome Var. 2023. PMID: 37452054 Free PMC article.

30

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Kobayashi Y, Tohyama J, Akasaka N, Yamada K, Hojo M, Seki E, Miura M, Soma N, Ono T, Kato M, Nakashima M, Saitsu H, Matsumoto N. Kobayashi Y, et al. Hum Genome Var. 2023 Jun 23;10(1):20. doi: 10.1038/s41439-023-00247-8. Hum Genome Var. 2023. PMID: 37353494 Free PMC article.

31

Genome-wide association study of preterm birth and gestational age in a Japanese population.

Hasegawa K, Kumasaka N, Nakabayashi K, Kamura H, Maehara K, Kasuga Y, Hata K, Tanaka M. Hasegawa K, et al. Hum Genome Var. 2023 Jun 13;10(1):19. doi: 10.1038/s41439-023-00246-9. Hum Genome Var. 2023. PMID: 37311799 Free PMC article.

32

Oculofaciocardiodental syndrome caused by a novel BCOR variant.

Yamashita T, Hotta J, Jogu Y, Sakai E, Ono C, Bamba H, Suzuki H, Yamada M, Takenouchi T, Kosaki K, Yorifuji T, Hamazaki T, Seto T. Yamashita T, et al. Hum Genome Var. 2023 Jun 12;10(1):18. doi: 10.1038/s41439-023-00244-x. Hum Genome Var. 2023. PMID: 37308473 Free PMC article.

33

A novel HECW2 variant in an infant with congenital long QT syndrome.

Imanishi R, Nakau K, Shimada S, Oka H, Takeguchi R, Tanaka R, Sugiyama T, Nii M, Okamoto T, Nagaya K, Makita Y, Yanagi K, Kaname T, Takahashi S. Imanishi R, et al. Hum Genome Var. 2023 Jun 6;10(1):17. doi: 10.1038/s41439-023-00245-w. Hum Genome Var. 2023. PMID: 37280227 Free PMC article.

34

A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.

Parveen A, Tariq M, Khan SA, Kakar N, Arif A, Wasif N. Parveen A, et al. Hum Genome Var. 2023 May 23;10(1):16. doi: 10.1038/s41439-023-00242-z. Hum Genome Var. 2023. PMID: 37221169 Free PMC article.

35

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.

Liu Y, Mao L, Huang H, Li W, Man J, Zhang W, Wang L, Li L, Sun Y, Zhai T, Guo X, Du L, Huang J, Li H, Wan Y, Wei X. Liu Y, et al. Hum Genome Var. 2023 May 22;10(1):15. doi: 10.1038/s41439-023-00238-9. Hum Genome Var. 2023. PMID: 37217505 Free PMC article.

36

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.

Soozangar N, Abbaspour E, Mokaber H, Nematollahi Z, Davarnia B. Soozangar N, et al. Hum Genome Var. 2023 May 15;10(1):14. doi: 10.1038/s41439-023-00243-y. Hum Genome Var. 2023. PMID: 37188672 Free PMC article.

37

A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene.

Ji J, Yang M, Jia J, Wu Q, Cong R, Cui H, Zhu B, Chu X. Ji J, et al. Hum Genome Var. 2023 Apr 13;10(1):13. doi: 10.1038/s41439-023-00241-0. Hum Genome Var. 2023. PMID: 37055399 Free PMC article.

38

Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.

Sonoyama T, Ishino T, Ogawa Y, Oda T, Takeno S. Sonoyama T, et al. Hum Genome Var. 2023 Apr 13;10(1):12. doi: 10.1038/s41439-023-00236-x. Hum Genome Var. 2023. PMID: 37045840 Free PMC article.

39

Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan.

Kusunose M, Muto K. Kusunose M, et al. Hum Genome Var. 2023 Mar 30;10(1):11. doi: 10.1038/s41439-023-00240-1. Hum Genome Var. 2023. PMID: 36990988 Free PMC article.

40

Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia.

Hamada S, Takahashi-Iwata I, Satoh K, Kitamoto T, Mizusawa H, Moriwaka F, Yabe I. Hamada S, et al. Hum Genome Var. 2023 Mar 29;10(1):10. doi: 10.1038/s41439-023-00237-w. Hum Genome Var. 2023. PMID: 36977684 Free PMC article.

41

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

Morikawa H, Nishina S, Torii K, Hosono K, Yokoi T, Shigeyasu C, Yamada M, Kosuga M, Fukami M, Saitsu H, Azuma N, Hori Y, Hotta Y. Morikawa H, et al. Hum Genome Var. 2023 Mar 24;10(1):9. doi: 10.1038/s41439-023-00239-8. Hum Genome Var. 2023. PMID: 36964172 Free PMC article.

42

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Nakahara E, Yamamoto KS, Ogura H, Aoki T, Utsugisawa T, Azuma K, Akagawa H, Watanabe K, Muraoka M, Nakamura F, Kamei M, Tatebayashi K, Shinozuka J, Yamane T, Hibino M, Katsura Y, Nakano-Akamatsu S, Kadowaki N, Maru Y, Ito E, Ohga S, Yagasaki H, Morioka I, Yamamoto T, Kanno H. Nakahara E, et al. Hum Genome Var. 2023 Mar 2;10(1):8. doi: 10.1038/s41439-023-00235-y. Hum Genome Var. 2023. PMID: 36864026 Free PMC article.

43

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.

AlHargan A, AlMuhaizea MA, Almass R, Alwadei AH, Daghestani M, Arold ST, Kaya N. AlHargan A, et al. Hum Genome Var. 2023 Feb 22;10(1):7. doi: 10.1038/s41439-023-00234-z. Hum Genome Var. 2023. PMID: 36810590 Free PMC article.

44

Design and implementation of a hybrid cloud system for large-scale human genomic research.

Nagasaki M, Sekiya Y, Asakura A, Teraoka R, Otokozawa R, Hashimoto H, Kawaguchi T, Fukazawa K, Inadomi Y, Murata KT, Ohkawa Y, Yamaguchi I, Mizuhara T, Tokunaga K, Sekiya Y, Hanawa T, Yamada R, Matsuda F. Nagasaki M, et al. Hum Genome Var. 2023 Feb 8;10(1):6. doi: 10.1038/s41439-023-00231-2. Hum Genome Var. 2023. PMID: 36755016 Free PMC article.

45

Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family.

Watanabe H, Goto S, Hosojima M, Kabasawa H, Imai N, Ito Y, Narita I. Watanabe H, et al. Hum Genome Var. 2023 Feb 2;10(1):5. doi: 10.1038/s41439-023-00233-0. Hum Genome Var. 2023. PMID: 36732323 Free PMC article.

46

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.

Okano S, Makita Y, Miyamoto A, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T. Okano S, et al. Hum Genome Var. 2023 Feb 2;10(1):4. doi: 10.1038/s41439-023-00232-1. Hum Genome Var. 2023. PMID: 36726007 Free PMC article.

47

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Adachi J, Aoki Y, Izumi H, Nishiyama T, Nakayama A, Sana M, Morimoto K, Kaetsu A, Shirozu T, Osumi E, Matsuoka M, Hayakawa E, Maeda N, Machida J, Nagao T, Tokita Y. Adachi J, et al. Hum Genome Var. 2023 Jan 26;10(1):3. doi: 10.1038/s41439-023-00230-3. Hum Genome Var. 2023. PMID: 36702846 Free PMC article.

48

Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals.

Lin M, Trejaut JA. Lin M, et al. Hum Genome Var. 2023 Jan 18;10(1):2. doi: 10.1038/s41439-022-00228-3. Hum Genome Var. 2023. PMID: 36653363 Free PMC article.

49

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.

Abbasi Z, Jafari Khamirani H, Tabei SMB, Manoochehri J, Dianatpour M, Dastgheib SA. Abbasi Z, et al. Hum Genome Var. 2023 Jan 13;10(1):1. doi: 10.1038/s41439-023-00229-w. Hum Genome Var. 2023. PMID: 36635257 Free PMC article.

50

Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes.

Kulski JK, Suzuki S, Shiina T. Kulski JK, et al. Hum Genome Var. 2022 Dec 21;9(1):49. doi: 10.1038/s41439-022-00226-5. Hum Genome Var. 2022. PMID: 36543786 Free PMC article. Review.

51

The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan.

Hachiya T, Ishii M, Kawai Y, Khor SS, Kawashima M, Toyo-Oka L, Mitsuhashi N, Fukuda A, Kodama Y, Fujisawa T, Tokunaga K, Takagi T. Hachiya T, et al. Hum Genome Var. 2022 Dec 20;9(1):48. doi: 10.1038/s41439-022-00225-6. Hum Genome Var. 2022. PMID: 36539398 Free PMC article.

52

Building cloud computing environments for genome analysis in Japan.

Ogasawara O. Ogasawara O. Hum Genome Var. 2022 Dec 14;9(1):46. doi: 10.1038/s41439-022-00223-8. Hum Genome Var. 2022. PMID: 36517473 Free PMC article. Review.

53

A novel FLNA variant in a fetus with skeletal dysplasia.

Oshina K, Kamei Y, Hori A, Hasegawa F, Taniguchi K, Migita O, Itakura A, Hata K. Oshina K, et al. Hum Genome Var. 2022 Dec 13;9(1):45. doi: 10.1038/s41439-022-00224-7. Hum Genome Var. 2022. PMID: 36509760 Free PMC article.

54

TogoVar: A comprehensive Japanese genetic variation database.

Mitsuhashi N, Toyo-Oka L, Katayama T, Kawashima M, Kawashima S, Miyazaki K, Takagi T. Mitsuhashi N, et al. Hum Genome Var. 2022 Dec 12;9(1):44. doi: 10.1038/s41439-022-00222-9. Hum Genome Var. 2022. PMID: 36509753 Free PMC article.

55

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Eto K, Machida O, Yanagishita T, Shimojima Yamamoto K, Chiba K, Aihara Y, Hasegawa Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Yamamoto T. Eto K, et al. Hum Genome Var. 2022 Dec 5;9(1):43. doi: 10.1038/s41439-022-00220-x. Hum Genome Var. 2022. PMID: 36470856 Free PMC article.

56

A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.

Hatano M, Udagawa T, Kanamori T, Sutani A, Mori T, Sohara E, Uchida S, Morio T, Nishioka M. Hatano M, et al. Hum Genome Var. 2022 Dec 1;9(1):42. doi: 10.1038/s41439-022-00221-w. Hum Genome Var. 2022. PMID: 36450716 Free PMC article.

57

Atypical Sotos syndrome caused by a novel splice site variant.

Minatogawa M, Tsuji T, Inaba M, Kawakami N, Mizuno S, Kosho T. Minatogawa M, et al. Hum Genome Var. 2022 Nov 16;9(1):41. doi: 10.1038/s41439-022-00219-4. Hum Genome Var. 2022. PMID: 36379925 Free PMC article.

58

Novel missense COL2A1 variant in a fetus with achondrogenesis type II.

Kobayashi Y, Ito Y, Taniguchi K, Harada K, Yamamura M, Sato T, Takahashi K, Kawame H, Hata K, Samura O, Okamoto A. Kobayashi Y, et al. Hum Genome Var. 2022 Nov 15;9(1):40. doi: 10.1038/s41439-022-00218-5. Hum Genome Var. 2022. PMID: 36376277 Free PMC article.

59

Distal 2q duplication in a patient with intellectual disability.

Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N. Suzuki T, et al. Hum Genome Var. 2022 Nov 10;9(1):39. doi: 10.1038/s41439-022-00215-8. Hum Genome Var. 2022. PMID: 36357380 Free PMC article.

60

National Center Biobank Network.

Omae Y, Goto YI, Tokunaga K. Omae Y, et al. Hum Genome Var. 2022 Nov 4;9(1):38. doi: 10.1038/s41439-022-00217-6. Hum Genome Var. 2022. PMID: 36333292 Free PMC article. Review.

61

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.

Vostrukhina OA, Mirlina ED, Khmelkova DN, Butrovich GM, Shakhmatova AD, Kil YV, Polyatskin YL, Artemyeva AS, Gulyaev AV, Verbenko VN. Vostrukhina OA, et al. Hum Genome Var. 2022 Oct 26;9(1):37. doi: 10.1038/s41439-022-00216-7. Hum Genome Var. 2022. PMID: 36289196 Free PMC article.

62

Cloud service checklist for academic communities and customization for genome medical research.

Kobayashi K, Yoshida H, Tanjo T, Aida K. Kobayashi K, et al. Hum Genome Var. 2022 Oct 17;9(1):36. doi: 10.1038/s41439-022-00214-9. Hum Genome Var. 2022. PMID: 36253343 Free PMC article. Review.

63

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

Kobayashi M, Suzuki Y, Nodera M, Matsunaga A, Kohda M, Okazaki Y, Murayama K, Yamagata T, Osaka H. Kobayashi M, et al. Hum Genome Var. 2022 Sep 29;9(1):35. doi: 10.1038/s41439-022-00210-z. Hum Genome Var. 2022. PMID: 36175418 Free PMC article.

64

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Shiga N, Yamaguchi-Kabata Y, Igeta S, Yasuda J, Tadaka S, Minato T, Watanabe Z, Kanno J, Tamiya G, Fuse N, Kinoshita K, Kure S, Kondo A, Tachibana M, Yamamoto M, Yaegashi N, Sugawara J. Shiga N, et al. Hum Genome Var. 2022 Sep 28;9(1):34. doi: 10.1038/s41439-022-00213-w. Hum Genome Var. 2022. PMID: 36171209 Free PMC article.

65

The ATRX splicing variant c.21-1G>A is asymptomatic.

Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo EF, Saitsu H, Matsumoto N, Yamagata T. Kojima K, et al. Hum Genome Var. 2022 Sep 14;9(1):33. doi: 10.1038/s41439-022-00212-x. Hum Genome Var. 2022. PMID: 36104326 Free PMC article.

66

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Hattori A, Okuyama T, So T, Kosuga M, Ichimoto K, Murayama K, Kagami M, Fukami M, Fukuhara Y. Hattori A, et al. Hum Genome Var. 2022 Sep 12;9(1):32. doi: 10.1038/s41439-022-00211-y. Hum Genome Var. 2022. PMID: 36097158 Free PMC article.

67

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Irum B, Kabir F, Shoshany N, Khan SY, Rauf B, Naeem MA, Qaiser TA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Irum B, et al. Hum Genome Var. 2022 Sep 8;9(1):31. doi: 10.1038/s41439-022-00208-7. Hum Genome Var. 2022. PMID: 36075891 Free PMC article.

68

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report.

Kumagai N, Matsumoto Y, Kondoh T, Ikezumi Y. Kumagai N, et al. Hum Genome Var. 2022 Aug 31;9(1):30. doi: 10.1038/s41439-022-00209-6. Hum Genome Var. 2022. PMID: 36045115 Free PMC article.

69

A Japanese family with dystonia due to a pathogenic variant in SGCE.

Morikawa T, Miura S, Fan L, Watanabe E, Fujioka R, Motooka H, Yasumoto S, Uchiyama Y, Shibata H. Morikawa T, et al. Hum Genome Var. 2022 Aug 22;9(1):29. doi: 10.1038/s41439-022-00207-8. Hum Genome Var. 2022. PMID: 35995778 Free PMC article.

70

Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.

Murakami H, Tanimoto Y, Tanimoto K, Inoue S, Ishikawa T, Makita N, Yamazawa K. Murakami H, et al. Hum Genome Var. 2022 Aug 8;9(1):28. doi: 10.1038/s41439-022-00206-9. Hum Genome Var. 2022. PMID: 35941102 Free PMC article.

71

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.

Koh K, Shimazaki H, Ogawa M, Takiyama Y. Koh K, et al. Hum Genome Var. 2022 Jul 27;9(1):27. doi: 10.1038/s41439-022-00204-x. Hum Genome Var. 2022. PMID: 35882834 Free PMC article.

72

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.

Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Moriwaki T, Iwata R, Terawaki S, Yamanouchi Y, Otomo T. Sofronova V, et al. Hum Genome Var. 2022 Jul 25;9(1):26. doi: 10.1038/s41439-022-00203-y. Hum Genome Var. 2022. PMID: 35879281 Free PMC article.

73

Succinate dehydrogenase B-deficient renal cell carcinoma with a germline variant in a Japanese patient: a case report.

Higashi S, Sasaki T, Uchida K, Kageyama T, Ikejiri M, Matsumoto R, Kato M, Masui S, Yoshio Y, Nishikawa K, Okugawa Y, Watanabe M, Inoue T. Higashi S, et al. Hum Genome Var. 2022 Jul 22;9(1):25. doi: 10.1038/s41439-022-00202-z. Hum Genome Var. 2022. PMID: 35869040 Free PMC article.

74

A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts.

Yakabe A, Ikuse T, Ito N, Yamada H, Saito N, Kitamura Y, Iwasaki T, Ikeno M, Suganuma H, Abe S, Miyazaki N, Hisata K, Shoji H, Nakazawa T, Eguchi H, Shimizu T. Yakabe A, et al. Hum Genome Var. 2022 Jun 10;9(1):24. doi: 10.1038/s41439-022-00199-5. Hum Genome Var. 2022. PMID: 35688819 Free PMC article.

75

Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.

Watanabe K, Noguchi A, Takahashi I, Yamada M, Suzuki H, Takenouchi T, Kosaki K, Takahashi T. Watanabe K, et al. Hum Genome Var. 2022 Jun 9;9(1):23. doi: 10.1038/s41439-022-00196-8. Hum Genome Var. 2022. PMID: 35680838 Free PMC article.

76

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.

Duong NT, Anh NP, Bac ND, Quang LB, Miyake N, Van Hai N, Matsumoto N. Duong NT, et al. Hum Genome Var. 2022 Jun 6;9(1):21. doi: 10.1038/s41439-022-00200-1. Hum Genome Var. 2022. PMID: 35668072 Free PMC article.

77

Online tools for efficient paper writing.

Yamamoto Y, Fujiwara T. Yamamoto Y, et al. Hum Genome Var. 2022 Jun 6;9(1):20. doi: 10.1038/s41439-022-00195-9. Hum Genome Var. 2022. PMID: 35668068 Free PMC article.

78

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Duong NT, Anh LTL, Sau NH, Anh NB, Miyake N, Van Hai N, Matsumoto N. Duong NT, et al. Hum Genome Var. 2022 Jun 6;9(1):22. doi: 10.1038/s41439-022-00201-0. Hum Genome Var. 2022. PMID: 35668061 Free PMC article. No abstract available.

79

Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.

Mori J, Hasegawa T, Miyamoto Y, Kitamura K, Morimoto H, Tozawa T, Pooh RK, Chiyonobu T. Mori J, et al. Hum Genome Var. 2022 Jun 3;9(1):18. doi: 10.1038/s41439-022-00197-7. Hum Genome Var. 2022. PMID: 35665751 Free PMC article.

80

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.

Hashiguchi M, Monden Y, Nozaki Y, Watanabe K, Nakashima M, Saitsu H, Yamagata T, Osaka H. Hashiguchi M, et al. Hum Genome Var. 2022 Jun 3;9(1):19. doi: 10.1038/s41439-022-00198-6. Hum Genome Var. 2022. PMID: 35661708 Free PMC article.

81

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.

Hori A, Migita O, Isogawa N, Takada F, Hata K. Hori A, et al. Hum Genome Var. 2022 May 20;9(1):17. doi: 10.1038/s41439-022-00186-w. Hum Genome Var. 2022. PMID: 35595744 Free PMC article.

82

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.

Okazaki T, Kawaguchi T, Saiki Y, Aoki C, Kasagi N, Adachi K, Saida K, Matsumoto N, Nanba E, Maegaki Y. Okazaki T, et al. Hum Genome Var. 2022 May 17;9(1):14. doi: 10.1038/s41439-022-00194-w. Hum Genome Var. 2022. PMID: 35581197 Free PMC article.

83

A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Duong NT, Anh LTL, Sau NH, Anh NB, Miyake N, Van Hai N, Matsumoto N. Duong NT, et al. Hum Genome Var. 2022 May 17;9(1):13. doi: 10.1038/s41439-022-00192-y. Hum Genome Var. 2022. PMID: 35581191 Free PMC article.

84

Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.

Sato H, Suga K, Suzue M, Honma Y, Hayabuchi Y, Miyai S, Kurahashi H, Nakagawa R. Sato H, et al. Hum Genome Var. 2022 May 17;9(1):15. doi: 10.1038/s41439-022-00190-0. Hum Genome Var. 2022. PMID: 35581188 Free PMC article.

85

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Akahira-Azuma M, Enomoto Y, Nakamura N, Yokoi T, Minatogawa M, Harada N, Tsurusaki Y, Kurosawa K. Akahira-Azuma M, et al. Hum Genome Var. 2022 May 17;9(1):16. doi: 10.1038/s41439-022-00193-x. Hum Genome Var. 2022. PMID: 35581182 Free PMC article.

86

Novel NARS2 variant causing leigh syndrome with normal lactate levels.

Tanaka R, Takeguchi R, Kuroda M, Suzuki N, Makita Y, Yanagi K, Kaname T, Takahashi S. Tanaka R, et al. Hum Genome Var. 2022 May 4;9(1):12. doi: 10.1038/s41439-022-00191-z. Hum Genome Var. 2022. PMID: 35508527 Free PMC article.

87

Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient.

Fukuda Y, Kudo Y, Saito M, Kaname T, Oota T, Shoji R. Fukuda Y, et al. Hum Genome Var. 2022 Apr 19;9(1):11. doi: 10.1038/s41439-022-00189-7. Hum Genome Var. 2022. PMID: 35440576 Free PMC article.

88

Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.

Nath S, Caron NS, May L, Gluscencova OB, Kolesar J, Brady L, Kaufman BA, Boulianne GL, Rodriguez AR, Tarnopolsky MA, Truant R. Nath S, et al. Hum Genome Var. 2022 Apr 14;9(1):10. doi: 10.1038/s41439-022-00188-8. Hum Genome Var. 2022. PMID: 35422034 Free PMC article.

89

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.

Chinen Y, Nakamura S, Yanagi K, Kaneshi T, Goya H, Yoshida T, Satou K, Kaname T, Naritomi K, Nakanishi K. Chinen Y, et al. Hum Genome Var. 2022 Mar 31;9(1):9. doi: 10.1038/s41439-022-00187-9. Hum Genome Var. 2022. PMID: 35361766 Free PMC article.

90

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant.

Tomida A, Chiyonobu T, Tokuda S, Miyachi M, Murashima K, Hirata M, Nakagawa M, Iehara T, Kuroda J, Takayama K. Tomida A, et al. Hum Genome Var. 2022 Mar 8;9(1):8. doi: 10.1038/s41439-022-00185-x. Hum Genome Var. 2022. PMID: 35260566 Free PMC article.

91

Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy.

Inagaki N, Hayashi T, Takei Y, Kosuge H, Suzuki S, Tanimoto K, Chikamori T, Kimura A. Inagaki N, et al. Hum Genome Var. 2022 Feb 18;9(1):6. doi: 10.1038/s41439-022-00183-z. Hum Genome Var. 2022. PMID: 35181673 Free PMC article.

92

Two novel heterozygous variants in ATP1A3 cause movement disorders.

Furukawa S, Miyamoto S, Fukumura S, Kubota K, Taga T, Nakashima M, Saitsu H. Furukawa S, et al. Hum Genome Var. 2022 Feb 18;9(1):7. doi: 10.1038/s41439-022-00184-y. Hum Genome Var. 2022. PMID: 35181663 Free PMC article.

93

Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex.

Muto Y, Sasaki H, Sumitomo M, Inagaki H, Kato M, Kato T, Miyai S, Kurahashi H, Shiroki R. Muto Y, et al. Hum Genome Var. 2022 Feb 10;9(1):5. doi: 10.1038/s41439-022-00181-1. Hum Genome Var. 2022. PMID: 35145067 Free PMC article.

94

A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia.

Fan L, Miura S, Shimojo T, Sugino H, Fujioka R, Shibata H. Fan L, et al. Hum Genome Var. 2022 Jan 27;9(1):4. doi: 10.1038/s41439-022-00182-0. Hum Genome Var. 2022. PMID: 35082294 Free PMC article.

95

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM.

Nohara F, Tajima G, Sasai H, Makita Y. Nohara F, et al. Hum Genome Var. 2022 Jan 17;9(1):2. doi: 10.1038/s41439-021-00177-3. Hum Genome Var. 2022. PMID: 35034956 Free PMC article.

96

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Yagi Y, Abeto N, Shiraishi J, Miyata C, Inoue S, Murakami H, Nakashima M, Sugano K, Ushiama M, Yoshida T, Yamazawa K. Yagi Y, et al. Hum Genome Var. 2022 Jan 17;9(1):3. doi: 10.1038/s41439-021-00180-8. Hum Genome Var. 2022. PMID: 35034951 Free PMC article.

97

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Yamamoto KS, Utshigisawa T, Ogura H, Aoki T, Kawakami T, Ohga S, Ohara A, Ito E, Yamamoto T, Kanno H. Yamamoto KS, et al. Hum Genome Var. 2022 Jan 12;9(1):1. doi: 10.1038/s41439-021-00179-1. Hum Genome Var. 2022. PMID: 35022413 Free PMC article.

98

A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.

Yamazawa K, Shimizu K, Ohashi H, Haruna H, Inoue S, Murakami H, Matsunaga T, Iwata T, Tsunoda K, Fujinami K. Yamazawa K, et al. Hum Genome Var. 2021 Dec 17;8(1):46. doi: 10.1038/s41439-021-00178-2. Hum Genome Var. 2021. PMID: 34921139 Free PMC article.

99

dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project.

Ogishima S, Nagaie S, Mizuno S, Ishiwata R, Iida K, Shimokawa K, Takai-Igarashi T, Nakamura N, Nagase S, Nakamura T, Tsuchiya N, Nakaya N, Murakami K, Ueno F, Onuma T, Ishikuro M, Obara T, Mugikura S, Tomita H, Uruno A, Kobayashi T, Tsuboi A, Tadaka S, Katsuoka F, Narita A, Sakurai M, Makino S, Tamiya G, Aoki Y, Shimizu R, Motoike IN, Koshiba S, Minegishi N, Kumada K, Nobukuni T, Suzuki K, Danjoh I, Nagami F, Tanno K, Ohmomo H, Asahi K, Shimizu A, Hozawa A, Kuriyama S; Tohoku Medical Megabank Project Study Group; Fuse N, Tominaga T, Kure S, Yaegashi N, Kinoshita K, Sasaki M, Tanaka H, Yamamoto M. Ogishima S, et al. Hum Genome Var. 2021 Dec 10;8(1):44. doi: 10.1038/s41439-021-00175-5. Hum Genome Var. 2021. PMID: 34887386 Free PMC article.

100

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review.

Kido J, Mitsubuchi H, Watanabe T, Sugawara K, Sasai H, Fukao T, Nakamura K. Kido J, et al. Hum Genome Var. 2021 Dec 8;8(1):45. doi: 10.1038/s41439-021-00172-8. Hum Genome Var. 2021. PMID: 34876562 Free PMC article.

101

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.

Shimojima Yamamoto K, Yanagishita T, Yamamoto H, Miyamoto Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Yamamoto T. Shimojima Yamamoto K, et al. Hum Genome Var. 2021 Nov 29;8(1):43. doi: 10.1038/s41439-021-00176-4. Hum Genome Var. 2021. PMID: 34845217 Free PMC article.

102

Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report.

Manoochehri J, Dastgheib SA, Khamirani HJ, Mollaie M, Sharifi Z, Zoghi S, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dianatpour M. Manoochehri J, et al. Hum Genome Var. 2021 Nov 22;8(1):42. doi: 10.1038/s41439-021-00174-6. Hum Genome Var. 2021. PMID: 34811348 Free PMC article. No abstract available.

103

An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant.

Noda S, Aoyama K, Kondo Y, Okamura J, Suzuki A, Yamaguchi N, Yoshida A, Miyake Y. Noda S, et al. Hum Genome Var. 2021 Nov 18;8(1):41. doi: 10.1038/s41439-021-00173-7. Hum Genome Var. 2021. PMID: 34795218 Free PMC article.

104

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.

Hori A, Migita O, Kawaguchi-Kawata R, Narumi-Kishimoto Y, Takada F, Hata K. Hori A, et al. Hum Genome Var. 2021 Oct 29;8(1):40. doi: 10.1038/s41439-021-00166-6. Hum Genome Var. 2021. PMID: 34716296 Free PMC article.

105

Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1.

Alavi O, Khamirani HJ, Zoghi S, Feili A, Dastgheib SA, Tabei SMB, Manoochehri J, Panahandeh SM, Kamali M, Dianatpour M. Alavi O, et al. Hum Genome Var. 2021 Oct 26;8(1):39. doi: 10.1038/s41439-021-00171-9. Hum Genome Var. 2021. PMID: 34702808 Free PMC article.

106

JCGA: the Japanese version of the Cancer Genome Atlas and its contribution to the interpretation of gene alterations detected in clinical cancer genome sequencing.

Serizawa M, Mizuguchi M, Urakami K, Nagashima T, Ohshima K, Hatakeyama K, Ohnami S, Ohnami S, Maruyama K, Ashizawa T, Iizuka A, Horiuchi Y, Naruoka A, Kenmotsu H, Akiyama Y, Yamaguchi K. Serizawa M, et al. Hum Genome Var. 2021 Sep 30;8(1):38. doi: 10.1038/s41439-021-00170-w. Hum Genome Var. 2021. PMID: 34588443 Free PMC article.

107

Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.

Freyberger F, Kokotović T, Krnjak G, Frković SH, Nagy V. Freyberger F, et al. Hum Genome Var. 2021 Sep 27;8(1):37. doi: 10.1038/s41439-021-00169-3. Hum Genome Var. 2021. PMID: 34580287 Free PMC article.

108

Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome.

Marszałek-Kruk BA, Wójcicki P. Marszałek-Kruk BA, et al. Hum Genome Var. 2021 Sep 27;8(1):36. doi: 10.1038/s41439-021-00168-4. Hum Genome Var. 2021. PMID: 34580285 Free PMC article.

109

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.

Poon KS, Tan KM, Loke KY. Poon KS, et al. Hum Genome Var. 2021 Sep 1;8(1):35. doi: 10.1038/s41439-021-00167-5. Hum Genome Var. 2021. PMID: 34471093 Free PMC article.

110

Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.

Asakura Y, Osaka H, Aoi H, Mizuguchi T, Matsumoto N, Yamagata T. Asakura Y, et al. Hum Genome Var. 2021 Aug 17;8(1):34. doi: 10.1038/s41439-021-00165-7. Hum Genome Var. 2021. PMID: 34404773 Free PMC article.

111

A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

Manoochehri J, Dastgheib SA, Khamirani HJ, Mollaie M, Sharifi Z, Zoghi S, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dianatpour M. Manoochehri J, et al. Hum Genome Var. 2021 Aug 12;8(1):33. doi: 10.1038/s41439-021-00164-8. Hum Genome Var. 2021. PMID: 34385424 Free PMC article.

112

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases.

Fuchs S, Lisfeld J, Kankel S, Person L, Liehr T. Fuchs S, et al. Hum Genome Var. 2021 Jul 28;8(1):32. doi: 10.1038/s41439-021-00163-9. Hum Genome Var. 2021. PMID: 34321463 Free PMC article.

113

A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.

Habib A, Shojazadeh A, Molayemat M, Jafari Khamirani H, Zoghi S, Dastgheib SA, Habib A. Habib A, et al. Hum Genome Var. 2021 Jul 21;8(1):31. doi: 10.1038/s41439-021-00160-y. Hum Genome Var. 2021. PMID: 34290232 Free PMC article.

114

Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.

Hama R, Kido J, Sugawara K, Nakamura T, Nakamura K. Hama R, et al. Hum Genome Var. 2021 Jul 20;8(1):28. doi: 10.1038/s41439-021-00159-5. Hum Genome Var. 2021. PMID: 34285201 Free PMC article.

115

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.

Adachi J, Aoki Y, Tatematsu T, Goto H, Nakayama A, Nishiyama T, Takahashi K, Sana M, Ota A, Machida J, Nagao T, Tokita Y. Adachi J, et al. Hum Genome Var. 2021 Jul 20;8(1):29. doi: 10.1038/s41439-021-00161-x. Hum Genome Var. 2021. PMID: 34285200 Free PMC article.

116

A novel LRP6 variant in a Japanese family with oligodontia.

Goto H, Kimura M, Machida J, Ota A, Nakashima M, Tsuchida N, Adachi J, Aoki Y, Tatematsu T, Takahashi K, Sana M, Nakayama A, Suzuki S, Nagao T, Matsumoto N, Tokita Y. Goto H, et al. Hum Genome Var. 2021 Jul 20;8(1):30. doi: 10.1038/s41439-021-00162-w. Hum Genome Var. 2021. PMID: 34285199 Free PMC article.

117

The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms.

Kawashima-Sonoyama Y, Okuno K, Dohmoto T, Tanase-Nakao K, Narumi S, Namba N. Kawashima-Sonoyama Y, et al. Hum Genome Var. 2021 Jul 12;8(1):27. doi: 10.1038/s41439-021-00158-6. Hum Genome Var. 2021. PMID: 34253717 Free PMC article.

118

Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant.

Okazaki T, Yamada H, Matsuura K, Kasagi N, Miyake N, Matsumoto N, Adachi K, Nanba E, Maegaki Y. Okazaki T, et al. Hum Genome Var. 2021 Jul 12;8(1):26. doi: 10.1038/s41439-021-00157-7. Hum Genome Var. 2021. PMID: 34253714 Free PMC article.

119

Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes.

Hosoe J, Suzuki K, Miya F, Kato T, Tsunoda T, Okada Y, Horikoshi M, Shojima N, Yamauchi T, Kadowaki T. Hosoe J, et al. Hum Genome Var. 2021 Jul 5;8(1):25. doi: 10.1038/s41439-021-00156-8. Hum Genome Var. 2021. PMID: 34226521 Free PMC article.

120

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.

Ueda K, Araki A, Fujita A, Matsumoto N, Uehara T, Suzuki H, Takenouchi T, Kosaki K, Okamoto N. Ueda K, et al. Hum Genome Var. 2021 Jun 18;8(1):24. doi: 10.1038/s41439-021-00155-9. Hum Genome Var. 2021. PMID: 34145223 Free PMC article.

121

A novel PTRH2 missense mutation causing IMNEPD: a case report.

Khamirani HJ, Zoghi S, Dianatpour M, Jankhah A, Tabei SS, Mohammadi S, Dastgheib SA. Khamirani HJ, et al. Hum Genome Var. 2021 Jun 10;8(1):23. doi: 10.1038/s41439-021-00147-9. Hum Genome Var. 2021. PMID: 34112751 Free PMC article.

122

Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population.

Kikuchi M, Kobayashi K, Nishida N, Sawai H, Sugiyama M, Mizokami M, Tokunaga K, Nakaya A. Kikuchi M, et al. Hum Genome Var. 2021 Jun 8;8(1):22. doi: 10.1038/s41439-021-00154-w. Hum Genome Var. 2021. PMID: 34103483 Free PMC article.

123

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene.

Morikawa T, Miura S, Tateishi T, Noda K, Shibata H. Morikawa T, et al. Hum Genome Var. 2021 May 25;8(1):21. doi: 10.1038/s41439-021-00153-x. Hum Genome Var. 2021. PMID: 34035234 Free PMC article.

124

Cerebrovascular diseases in two patients with entire NSD1 deletion.

Itai T, Miyatake S, Hatano T, Hattori N, Ohno A, Aoki Y, Itomi K, Mori H, Saitsu H, Matsumoto N. Itai T, et al. Hum Genome Var. 2021 May 24;8(1):20. doi: 10.1038/s41439-021-00151-z. Hum Genome Var. 2021. PMID: 34031356 Free PMC article.

125

Germline deletion of chromosome 2p16-21 associated with Lynch syndrome.

Natsume S, Yamaguchi T, Eguchi H, Okazaki Y, Horiguchi SI, Ishida H. Natsume S, et al. Hum Genome Var. 2021 May 19;8(1):19. doi: 10.1038/s41439-021-00152-y. Hum Genome Var. 2021. PMID: 34012011 Free PMC article.

126

A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma.

Muto K, Miyamoto R, Terasawa Y, Shimatani Y, Hara K, Kakimoto T, Fukumoto T, Osaki Y, Fujita K, Harada M, Uehara H, Takagi Y, Izumi Y. Muto K, et al. Hum Genome Var. 2021 May 14;8(1):18. doi: 10.1038/s41439-021-00150-0. Hum Genome Var. 2021. PMID: 33990551 Free PMC article.

127

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.

Kim JS, Jeon H, Lee H, Ko JM, Kim Y, Choi M, Nishimura G, Kim OH, Cho TJ. Kim JS, et al. Hum Genome Var. 2021 May 7;8(1):17. doi: 10.1038/s41439-021-00149-7. Hum Genome Var. 2021. PMID: 33963180 Free PMC article.

128

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

Yanagishita T, Eto K, Yamamoto-Shimojima K, Segawa O, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Nagata S, Yamamoto T. Yanagishita T, et al. Hum Genome Var. 2021 May 6;8(1):16. doi: 10.1038/s41439-021-00148-8. Hum Genome Var. 2021. PMID: 33958584 Free PMC article.

129

Genetic variability in COVID-19-related genes in the Brazilian population.

Secolin R, de Araujo TK, Gonsales MC, Rocha CS, Naslavsky M, Marco L, Bicalho MAC, Vazquez VL, Zatz M, Silva WA, Lopes-Cendes I. Secolin R, et al. Hum Genome Var. 2021 Apr 2;8:15. doi: 10.1038/s41439-021-00146-w. eCollection 2021. Hum Genome Var. 2021. PMID: 33824725 Free PMC article.

130

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Yamamoto-Shimojima K, Akagawa H, Yanagi K, Kaname T, Okamoto N, Yamamoto T. Yamamoto-Shimojima K, et al. Hum Genome Var. 2021 Apr 1;8(1):14. doi: 10.1038/s41439-021-00144-y. Hum Genome Var. 2021. PMID: 33795668 Free PMC article.

131

Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals.

Yamamoto J, Yamamoto M, Takano K, Okazaki T, Arakawa R, Hara H, Okazaki A, Takeuchi F, Hiroi Y, Kato N. Yamamoto J, et al. Hum Genome Var. 2021 Mar 31;8(1):13. doi: 10.1038/s41439-021-00145-x. Hum Genome Var. 2021. PMID: 33790279 Free PMC article.

132

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.

Srikrupa NN, Sripriya S, Pavithra S, Sen P, Gupta R, Mathavan S. Srikrupa NN, et al. Hum Genome Var. 2021 Mar 29;8(1):12. doi: 10.1038/s41439-021-00143-z. Hum Genome Var. 2021. PMID: 33782391 Free PMC article.

133

The Y chromosome ancestry marker R1b1b2: a surrogate of the SARS-CoV-2 population affinity.

Ibrahim M, Salih A. Ibrahim M, et al. Hum Genome Var. 2021 Feb 18;8(1):11. doi: 10.1038/s41439-021-00141-1. Hum Genome Var. 2021. PMID: 33602939 Free PMC article.

134

MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.

Wakabayashi K, Osaka H, Kojima K, Imaizumi T, Yamamoto T, Yamagata T. Wakabayashi K, et al. Hum Genome Var. 2021 Feb 16;8(1):10. doi: 10.1038/s41439-021-00142-0. Hum Genome Var. 2021. PMID: 33594047 Free PMC article.

135

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM, Babikyan DT, Markarian S, Petrosyan JG, Avanesian N, Arutunyan T, Sarkisian TF. Moradian MM, et al. Hum Genome Var. 2021 Feb 9;8(1):9. doi: 10.1038/s41439-021-00140-2. Hum Genome Var. 2021. PMID: 33558524 Free PMC article.

136

Novel ARG1 variants identified in a patient with arginase 1 deficiency.

Yokoi K, Nakajima Y, Yasui T, Yoshino M, Yoshikawa T, Kurahashi H, Ito T. Yokoi K, et al. Hum Genome Var. 2021 Feb 4;8(1):8. doi: 10.1038/s41439-021-00139-9. Hum Genome Var. 2021. PMID: 33542202 Free PMC article.

137

Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm).

Runcharoen C, Fukunaga K, Sensorn I, Iemwimangsa N, Klumsathian S, Tong H, Vo NS, Le L, Hlaing TM, Thant M, Zain SM, Mohamed Z, Pung YF, Capule F, Nevado J Jr, Silao CL, Al-Mahayri ZN, Ali BR, Yuliwulandari R, Prayuni K, Zahroh H, Noor DAM, Xangsayarath P, Xayavong D, Kounnavong S, Sayasone S, Kordou Z, Liopetas I, Tsikrika A, Tsermpini EE, Koromina M, Mitropoulou C, Patrinos GP, Kesornsit A, Charoenyingwattana A, Wattanapokayakit S, Mahasirimongkol S, Mushiroda T, Chantratita W. Runcharoen C, et al. Hum Genome Var. 2021 Feb 4;8(1):7. doi: 10.1038/s41439-021-00135-z. Hum Genome Var. 2021. PMID: 33542200 Free PMC article.

138

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.

Higa M, Zaha A, Takushi A, Morishima N, Majikina T, Touma T, Shimabukuro M, Masuzaki H, Honda M, Hasegawa T. Higa M, et al. Hum Genome Var. 2021 Feb 3;8(1):6. doi: 10.1038/s41439-021-00138-w. Hum Genome Var. 2021. PMID: 33536409 Free PMC article.

139

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism.

Tamaoka S, Suzuki E, Hattori A, Ogata T, Fukami M, Katoh-Fukui Y. Tamaoka S, et al. Hum Genome Var. 2021 Feb 2;8(1):5. doi: 10.1038/s41439-021-00137-x. Hum Genome Var. 2021. PMID: 33531459 Free PMC article.

140

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.

Tozawa T, Nishimura A, Ueno T, Shikata A, Taura Y, Yoshida T, Nakagawa N, Wada T, Kosugi S, Uehara T, Takenouchi T, Kosaki K, Chiyonobu T. Tozawa T, et al. Hum Genome Var. 2021 Jan 26;8(1):4. doi: 10.1038/s41439-021-00136-y. Hum Genome Var. 2021. PMID: 33500398 Free PMC article.

141

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Nagaoka S, Yamaguchi-Kabata Y, Shiga N, Tachibana M, Yasuda J, Tadaka S, Tamiya G, Fuse N, Kinoshita K, Kure S, Murotsuki J, Yamamoto M, Yaegashi N, Sugawara J. Nagaoka S, et al. Hum Genome Var. 2021 Jan 15;8(1):2. doi: 10.1038/s41439-020-00133-7. Hum Genome Var. 2021. PMID: 33452237 Free PMC article.

142

A pediatric case of productive cough caused by novel variants in DNAH9.

Takeuchi K, Xu Y, Ogawa S, Ikejiri M, Nakatani K, Gotoh S, Usui S, Masuda S, Nagao M, Fujisawa T. Takeuchi K, et al. Hum Genome Var. 2021 Jan 15;8(1):3. doi: 10.1038/s41439-020-00134-6. Hum Genome Var. 2021. PMID: 33452233 Free PMC article.

143

Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.

Taniguchi K, Inoue M, Arai K, Uchida K, Migita O, Akemoto Y, Hirayama J, Takeuchi I, Shimizu H, Hata K. Taniguchi K, et al. Hum Genome Var. 2021 Jan 14;8(1):1. doi: 10.1038/s41439-020-00128-4. Hum Genome Var. 2021. PMID: 33446651 Free PMC article.

144

A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease.

Uchida N, Shibata H, Nishimura G, Hasegawa T. Uchida N, et al. Hum Genome Var. 2020 Dec 3;7(1):44. doi: 10.1038/s41439-020-00132-8. Hum Genome Var. 2020. PMID: 33298914 Free PMC article.

145

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.

Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N. Hiromoto Y, et al. Hum Genome Var. 2020 Dec 3;7(1):43. doi: 10.1038/s41439-020-00131-9. Hum Genome Var. 2020. PMID: 33298907 Free PMC article.

146

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Ogura H, Ohga S, Aoki T, Utsugisawa T, Takahashi H, Iwai A, Watanabe K, Okuno Y, Yoshida K, Ogawa S, Miyano S, Kojima S, Yamamoto T, Yamamoto-Shimojima K, Kanno H. Ogura H, et al. Hum Genome Var. 2020 Nov 27;7(1):42. doi: 10.1038/s41439-020-00130-w. Hum Genome Var. 2020. PMID: 33298904 Free PMC article.

147

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability.

Khan A, Umair M, Sharaf RA, Khan MI, Ullah A, Abbas S, Shaheen N, Bilal M, Ahamd F. Khan A, et al. Hum Genome Var. 2020 Nov 27;7(1):41. doi: 10.1038/s41439-020-00129-3. Hum Genome Var. 2020. PMID: 33298898 Free PMC article.

148

A reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes.

Ganapathiraju MK, Subramanian S, Chaparala S, Karunakaran KB. Ganapathiraju MK, et al. Hum Genome Var. 2020 Nov 20;7(1):40. doi: 10.1038/s41439-020-00127-5. Hum Genome Var. 2020. PMID: 33298903 Free PMC article.

149

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.

Ahmad S, Manon L, Bhat G, Machado J, Zalan A, Mata-Machado N, Garzon S, Yoshii A. Ahmad S, et al. Hum Genome Var. 2020 Nov 19;7(1):39. doi: 10.1038/s41439-020-00124-8. Hum Genome Var. 2020. PMID: 33298910 Free PMC article.

150

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.

Nakase Y, Hamada A, Kitamura N, Hata T, Toratani S, Yamamoto T, Okamoto T. Nakase Y, et al. Hum Genome Var. 2020 Nov 18;7(1):38. doi: 10.1038/s41439-020-00126-6. Hum Genome Var. 2020. PMID: 33298892 Free PMC article.

151

Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility.

Nawa Y, Kimura H, Mori D, Kato H, Toyama M, Furuta S, Yu Y, Ishizuka K, Kushima I, Aleksic B, Arioka Y, Morikawa M, Okada T, Inada T, Kaibuchi K, Ikeda M, Iwata N, Suzuki M, Okahisa Y, Egawa J, Someya T, Nishimura F, Sasaki T, Ozaki N. Nawa Y, et al. Hum Genome Var. 2020 Nov 10;7(1):37. doi: 10.1038/s41439-020-00125-7. Hum Genome Var. 2020. PMID: 33298905 Free PMC article.

152

Correction to: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.

Maeda Y, Sasaki A, Kasai S, Goto S, Nishio SY, Sawada K, Tokuda I, Itoh K, Usami SI, Matsubara A. Maeda Y, et al. Hum Genome Var. 2020 Oct 27;7:36. doi: 10.1038/s41439-020-00123-9. eCollection 2020. Hum Genome Var. 2020. PMID: 33133630 Free PMC article.

153

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.

McLaren TL, De Roach JN, Thompson JA, Chen FK, Mackey DA, Hoffmann L, Urwin IR, Lamey TM. McLaren TL, et al. Hum Genome Var. 2020 Oct 23;7:35. doi: 10.1038/s41439-020-00122-w. eCollection 2020. Hum Genome Var. 2020. PMID: 33110609 Free PMC article.

154

Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.

Matsuda S, Ohnuki Y, Okami M, Ochiai E, Yamada S, Takahashi K, Osawa M, Okami K, Iida M, Mochizuki H. Matsuda S, et al. Hum Genome Var. 2020 Oct 15;7:34. doi: 10.1038/s41439-020-00121-x. eCollection 2020. Hum Genome Var. 2020. PMID: 33082985 Free PMC article.

155

Genetic architecture of left ventricular noncompaction in adults.

Ross SB, Singer ES, Driscoll E, Nowak N, Yeates L, Puranik R, Sy RW, Rajagopalan S, Barratt A, Ingles J, Bagnall RD, Semsarian C. Ross SB, et al. Hum Genome Var. 2020 Oct 15;7:33. doi: 10.1038/s41439-020-00120-y. eCollection 2020. Hum Genome Var. 2020. PMID: 33082984 Free PMC article.

156

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

Ikeda S, Akamatsu C, Ijuin A, Nagashima A, Sasaki M, Mochizuki A, Nagase H, Enomoto Y, Kuroda Y, Kurosawa K, Ishikawa H. Ikeda S, et al. Hum Genome Var. 2020 Oct 2;7:32. doi: 10.1038/s41439-020-00119-5. eCollection 2020. Hum Genome Var. 2020. PMID: 33082983 Free PMC article.

157

LDB2 locus disruption on 4p16.1 as a risk factor for schizophrenia and bipolar disorder.

Horiuchi Y, Ichikawa T, Ohnishi T, Iwayama Y, Toriumi K, Miyashita M, Nohara I, Obata N, Toyota T, Yoshikawa T, Itokawa M, Arai M. Horiuchi Y, et al. Hum Genome Var. 2020 Sep 29;7:31. doi: 10.1038/s41439-020-00117-7. eCollection 2020. Hum Genome Var. 2020. PMID: 33082982 Free PMC article.

158

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.

Hamada J, Ochi F, Sei Y, Takemoto K, Hirai H, Honda M, Shibata H, Hasegawa T, Eguchi M. Hamada J, et al. Hum Genome Var. 2020 Sep 28;7:30. doi: 10.1038/s41439-020-00118-6. eCollection 2020. Hum Genome Var. 2020. PMID: 33082981 Free PMC article.

159

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant.

Nishimura N, Kumaki T, Murakami H, Enomoto Y, Katsumata K, Toyoshima K, Kurosawa K. Nishimura N, et al. Hum Genome Var. 2020 Sep 25;7:29. doi: 10.1038/s41439-020-00116-8. eCollection 2020. Hum Genome Var. 2020. PMID: 33062288 Free PMC article.

160

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14).

Romero VI, Pozo JC, Saenz S, Llamos-Paneque A, Liehr T, Hosomichi K, Tajima A. Romero VI, et al. Hum Genome Var. 2020 Sep 25;7:28. doi: 10.1038/s41439-020-00113-x. eCollection 2020. Hum Genome Var. 2020. PMID: 33062287 Free PMC article.

161

Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.

Maeda Y, Sasaki A, Kasai S, Goto S, Nishio SY, Sawada K, Tokuda I, Itoh K, Usami SI, Matsubara A. Maeda Y, et al. Hum Genome Var. 2020 Sep 18;7:27. doi: 10.1038/s41439-020-00115-9. eCollection 2020. Hum Genome Var. 2020. PMID: 33014404 Free PMC article.

162

Nonsense variants of STAG2 result in distinct congenital anomalies.

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N. Aoi H, et al. Hum Genome Var. 2020 Sep 18;7:26. doi: 10.1038/s41439-020-00114-w. eCollection 2020. Hum Genome Var. 2020. PMID: 33014403 Free PMC article.

163

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

Hashimoto N, Dateki S, Suzuki E, Tsuchihashi T, Isobe A, Banno S, Kageyama T, Maeda N, Hatabu N, Sato R, Miharu M, Fujita H, Komiyama O, Shimizu H, Hasegawa T, Yamazawa K. Hashimoto N, et al. Hum Genome Var. 2020 Sep 14;7:25. doi: 10.1038/s41439-020-00112-y. eCollection 2020. Hum Genome Var. 2020. PMID: 33014402 Free PMC article.

164

Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.

Deuitch N, Li ST, Courtney E, Shaw T, Dent R, Tan V, Yackowski L, Torene R, Berkofsky-Fessler W, Ngeow J. Deuitch N, et al. Hum Genome Var. 2020 Aug 25;7:24. doi: 10.1038/s41439-020-00111-z. eCollection 2020. Hum Genome Var. 2020. PMID: 32884827 Free PMC article.

165

A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.

Shishido A, Morisada N, Tominaga K, Uemura H, Haruna A, Hanafusa H, Nozu K, Iijima K. Shishido A, et al. Hum Genome Var. 2020 Aug 17;7:23. doi: 10.1038/s41439-020-00110-0. eCollection 2020. Hum Genome Var. 2020. PMID: 32864149 Free PMC article.

166

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing.

Yokoi T, Enomoto Y, Uehara T, Kosaki K, Kurosawa K. Yokoi T, et al. Hum Genome Var. 2020 Aug 7;7:22. doi: 10.1038/s41439-020-0109-z. eCollection 2020. Hum Genome Var. 2020. PMID: 32802388 Free PMC article.

167

Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome.

Osumi K, Suga K, Ono A, Goji A, Mori T, Kinoshita Y, Sugano M, Toda Y, Urushihara M, Nakagawa R, Hayabuchi Y, Imoto I, Kagami S. Osumi K, et al. Hum Genome Var. 2020 Jul 16;7:21. doi: 10.1038/s41439-020-0108-0. eCollection 2020. Hum Genome Var. 2020. PMID: 32695431 Free PMC article.

168

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

Cueto-González AM, Fernández-Cancio M, Fernández-Alvarez P, García-Arumí E, Tizzano EF. Cueto-González AM, et al. Hum Genome Var. 2020 Jun 8;7:20. doi: 10.1038/s41439-020-0105-3. eCollection 2020. Hum Genome Var. 2020. PMID: 32549991 Free PMC article.

169

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.

Kondo Y, Aoyama K, Suzuki H, Hattori A, Hori I, Ito K, Yoshida A, Koroki M, Ueda K, Kosaki K, Saitoh S. Kondo Y, et al. Hum Genome Var. 2020 Jun 1;7:19. doi: 10.1038/s41439-020-0107-1. eCollection 2020. Hum Genome Var. 2020. PMID: 32528716 Free PMC article.

170

Polo-like kinase 4 and Stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy.

Yoshihara H, Sugiura-Ogasawara M, Ozawa F, Kitaori T, Ozaki Y, Aoki K, Shibata Y, Ugawa S, Nishiyama T, Omae Y, Tokunaga K. Yoshihara H, et al. Hum Genome Var. 2020 May 29;7:18. doi: 10.1038/s41439-020-0106-2. eCollection 2020. Hum Genome Var. 2020. PMID: 32528715 Free PMC article.

171

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion.

Abe Y, Yamamoto T, Izumita Y, Tsukano S. Abe Y, et al. Hum Genome Var. 2020 May 27;7:17. doi: 10.1038/s41439-020-0104-4. eCollection 2020. Hum Genome Var. 2020. PMID: 32528714 Free PMC article.

172

Novel LAMA2 variants identified in a patient with white matter abnormalities.

Yamamoto-Shimojima K, Ono H, Imaizumi T, Yamamoto T. Yamamoto-Shimojima K, et al. Hum Genome Var. 2020 May 26;7:16. doi: 10.1038/s41439-020-0103-5. eCollection 2020. Hum Genome Var. 2020. PMID: 32509318 Free PMC article.

173

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder.

Yokoi T, Enomoto Y, Naruto T, Kurosawa K, Higurashi N. Yokoi T, et al. Hum Genome Var. 2020 May 18;7:15. doi: 10.1038/s41439-020-0102-6. eCollection 2020. Hum Genome Var. 2020. PMID: 32435502 Free PMC article.

174

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.

Nadeem R, Kabir F, Li J, Gradstein L, Jiao X, Rauf B, Naeem MA, Assir MZ, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Nadeem R, et al. Hum Genome Var. 2020 May 12;7:14. doi: 10.1038/s41439-020-0100-8. eCollection 2020. Hum Genome Var. 2020. PMID: 32411380 Free PMC article.

175

Haplotype-specific PCR for NAT2 diplotyping.

Wichukchinda N, Pakdee J, Kunhapan P, Imunchot W, Toyo-Oka L, Tokunaga K, Mahasirimongkol S. Wichukchinda N, et al. Hum Genome Var. 2020 May 11;7:13. doi: 10.1038/s41439-020-0101-7. eCollection 2020. Hum Genome Var. 2020. PMID: 32411379 Free PMC article.

176

Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants.

Okazaki T, Matsuura K, Kasagi N, Adachi K, Kai M, Okubo M, Nishino I, Nanba E, Maegaki Y. Okazaki T, et al. Hum Genome Var. 2020 Apr 20;7:12. doi: 10.1038/s41439-020-0099-x. eCollection 2020. Hum Genome Var. 2020. PMID: 32351701 Free PMC article.

177

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.

Chinen Y, Yanagi K, Nakamura S, Nakayama N, Kamiya M, Nakayashiro M, Kaname T, Naritomi K, Nakanishi K. Chinen Y, et al. Hum Genome Var. 2020 Apr 16;7:11. doi: 10.1038/s41439-020-0098-y. eCollection 2020. Hum Genome Var. 2020. PMID: 32337051 Free PMC article.

178

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.

Nakama M, Sasai H, Kubota M, Hasegawa Y, Fujiki R, Okuyama T, Ohara O, Fukao T. Nakama M, et al. Hum Genome Var. 2020 Apr 2;7:10. doi: 10.1038/s41439-020-0097-z. eCollection 2020. Hum Genome Var. 2020. PMID: 32257295 Free PMC article.

179

Novel ARX mutation identified in infantile spasm syndrome patient.

Takeshita Y, Ohto T, Enokizono T, Tanaka M, Suzuki H, Fukushima H, Uehara T, Takenouchi T, Kosaki K, Takada H. Takeshita Y, et al. Hum Genome Var. 2020 Mar 31;7:9. doi: 10.1038/s41439-020-0094-2. eCollection 2020. Hum Genome Var. 2020. PMID: 32257294 Free PMC article.

180

Phenotypes of a family with XLH with a novel PHEX mutation.

Yamamoto A, Nakamura T, Ohata Y, Kubota T, Ozono K. Yamamoto A, et al. Hum Genome Var. 2020 Mar 31;7:8. doi: 10.1038/s41439-020-0095-1. eCollection 2020. Hum Genome Var. 2020. PMID: 32257293 Free PMC article.

181

Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia.

Poon KS, Tan KM, Koay ES, Sng A. Poon KS, et al. Hum Genome Var. 2020 Mar 30;7:7. doi: 10.1038/s41439-020-0096-0. eCollection 2020. Hum Genome Var. 2020. PMID: 32257292 Free PMC article.

182

Farewell Editorial.

Tokunaga K. Tokunaga K. Hum Genome Var. 2020 Mar 19;7:6. doi: 10.1038/s41439-020-0093-3. eCollection 2020. Hum Genome Var. 2020. PMID: 32218921 Free PMC article. No abstract available.

183

A message from the new Editor-in-Chief of the Human Genome Variation.

Imoto I. Imoto I. Hum Genome Var. 2020 Mar 19;7:5. doi: 10.1038/s41439-020-0092-4. eCollection 2020. Hum Genome Var. 2020. PMID: 32218920 Free PMC article. No abstract available.

184

MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene.

Onuma S, Wada T, Araki R, Wada K, Tanase-Nakao K, Narumi S, Fukui M, Shoji Y, Etani Y, Ida S, Kawai M. Onuma S, et al. Hum Genome Var. 2020 Mar 5;7:4. doi: 10.1038/s41439-020-0091-5. eCollection 2020. Hum Genome Var. 2020. PMID: 32194975 Free PMC article.

185

Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.

Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Mawatari G, et al. Hum Genome Var. 2020 Feb 10;7:3. doi: 10.1038/s41439-019-0086-2. eCollection 2020. Hum Genome Var. 2020. PMID: 32047640 Free PMC article.

186

A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D.

Bui CB, Duong TTP, Tran VT, Pham TTT, Vu T, Chau GC, Vo TV, Nguyen V, Trinh DT, Hoang MV. Bui CB, et al. Hum Genome Var. 2020 Feb 10;7:2. doi: 10.1038/s41439-020-0089-z. eCollection 2020. Hum Genome Var. 2020. PMID: 32047639 Free PMC article.

187

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.

Takizaki N, Tsurusaki Y, Katsumata K, Enomoto Y, Murakami H, Muroya K, Ishikawa H, Aida N, Nishimura G, Kurosawa K. Takizaki N, et al. Hum Genome Var. 2020 Feb 4;7:1. doi: 10.1038/s41439-020-0090-6. eCollection 2020. Hum Genome Var. 2020. PMID: 32047638 Free PMC article.

188

Normal early development in siblings with novel compound heterozygous variants in ASPM.

Moriwaki T, Yamazaki N, So T, Kosuga M, Miyazaki O, Narumi-Kishimoto Y, Kaname T, Nishimura G, Okuyama T, Fukuhara Y. Moriwaki T, et al. Hum Genome Var. 2020 Jan 6;6:56. doi: 10.1038/s41439-019-0088-0. eCollection 2019. Hum Genome Var. 2020. PMID: 31934343 Free PMC article.

189

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation.

Kusakawa M, Sato T, Hosoda A, Araki E, Matsuzaki Y, Yamashita Y, Ishihara J, Inagaki Y, Uchida N, Ishii T, Hasegawa T. Kusakawa M, et al. Hum Genome Var. 2019 Dec 23;6:55. doi: 10.1038/s41439-019-0087-1. eCollection 2019. Hum Genome Var. 2019. PMID: 31885872 Free PMC article.

190

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).

Hamaguchi Y, Aoki M, Watanabe S, Mishima H, Yoshiura KI, Moriuchi H, Dateki S. Hamaguchi Y, et al. Hum Genome Var. 2019 Dec 13;6:54. doi: 10.1038/s41439-019-0085-3. eCollection 2019. Hum Genome Var. 2019. PMID: 31871732 Free PMC article.

191

MGeND: an integrated database for Japanese clinical and genomic information.

Kamada M, Nakatsui M, Kojima R, Nohara S, Uchino E, Tanishima S, Sugiyama M, Kosaki K, Tokunaga K, Mizokami M, Okuno Y. Kamada M, et al. Hum Genome Var. 2019 Dec 6;6:53. doi: 10.1038/s41439-019-0084-4. eCollection 2019. Hum Genome Var. 2019. PMID: 31839973 Free PMC article.

192

Becker muscular dystrophy caused by exon 2-truncating mutation of DMD.

Ikeda T, Fujinaka H, Goto K, Nakajima T, Ozawa T. Ikeda T, et al. Hum Genome Var. 2019 Nov 18;6:52. doi: 10.1038/s41439-019-0083-5. eCollection 2019. Hum Genome Var. 2019. PMID: 31754439 Free PMC article.

193

Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer.

Hata C, Nakaoka H, Xiang Y, Wang D, Yang A, Liu D, Liu F, Zou Q, Zheng K, Inoue I, You H. Hata C, et al. Hum Genome Var. 2019 Oct 29;6:51. doi: 10.1038/s41439-019-0080-8. eCollection 2019. Hum Genome Var. 2019. PMID: 31700649 Free PMC article.

194

Association of HLA class I and II gene polymorphisms with acetaminophen-related Stevens-Johnson syndrome with severe ocular complications in Japanese individuals.

Ueta M, Nakamura R, Saito Y, Tokunaga K, Sotozono C, Yabe T, Aihara M, Matsunaga K, Kinoshita S. Ueta M, et al. Hum Genome Var. 2019 Oct 28;6:50. doi: 10.1038/s41439-019-0082-6. eCollection 2019. Hum Genome Var. 2019. PMID: 31666976 Free PMC article.

195

Novel USP9X variants in two patients with X-linked intellectual disability.

Tsurusaki Y, Kuroda Y, Yamanouchi Y, Kondo E, Ouchi K, Kimura Y, Enomoto Y, Aida N, Masuno M, Kurosawa K. Tsurusaki Y, et al. Hum Genome Var. 2019 Oct 21;6:49. doi: 10.1038/s41439-019-0081-7. eCollection 2019. Hum Genome Var. 2019. PMID: 31666975 Free PMC article.

196

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.

Takeshita E, Iida A, Abe-Hatano C, Nakagawa E, Sasaki M, Inoue K, Goto YI. Takeshita E, et al. Hum Genome Var. 2019 Oct 18;6:48. doi: 10.1038/s41439-019-0078-2. eCollection 2019. Hum Genome Var. 2019. PMID: 31645986 Free PMC article.

197

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion.

Hoshina T, Seto T, Shimono T, Sakamoto H, Okuyama T, Hamazaki T, Yamamoto T. Hoshina T, et al. Hum Genome Var. 2019 Oct 18;6:47. doi: 10.1038/s41439-019-0079-1. eCollection 2019. Hum Genome Var. 2019. PMID: 31645985 Free PMC article.

198

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis.

Altaraihi M, Gerdes AM, Wadt K. Altaraihi M, et al. Hum Genome Var. 2019 Oct 10;6:46. doi: 10.1038/s41439-019-0077-3. eCollection 2019. Hum Genome Var. 2019. PMID: 31645984 Free PMC article.

199

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Hirsch Y, Zeevi DA, Lam BL, Scher SY, Bringer R, Cherki B, Cohen CC, Muallem H, Chiang JP, Pantrangi M, Ekstein J, Johansson MM. Hirsch Y, et al. Hum Genome Var. 2019 Sep 12;6:45. doi: 10.1038/s41439-019-0076-4. eCollection 2019. Hum Genome Var. 2019. PMID: 31645983 Free PMC article.

200

Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism.

Ichikawa Y, Tanaka M, Kurita E, Nakajima M, Tanaka M, Oishi C, Goto J, Tsuji S, Chiba A. Ichikawa Y, et al. Hum Genome Var. 2019 Sep 4;6:44. doi: 10.1038/s41439-019-0073-7. eCollection 2019. Hum Genome Var. 2019. PMID: 31645982 Free PMC article.

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