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Is Part Of Human mutation. Volume 43:Issue 12(2022)

1. A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants. Issue 12 (12th September 2022)

Authors:
Rath, Abhijit; Radecki, Alexander A.; Rahman, Kaussar; Gilmore, Rachel B.; Hudson, Jonathan R.; Cenci, Matthew; Tavtigian, Sean V.; Grady, James P.; Heinen, Christopher D.
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2295
Record Type:
Journal Article
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2. A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition. Issue 12 (14th September 2022)

Authors:
Woodard, DaNae R.; Daniel, Steffi; Nakahara, Emi; Abbas, Ali; DiCesare, Sophia M.; Collier, Gracen E.; Hulleman, John D.
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1945
Record Type:
Journal Article
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3. A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay. Issue 12 (6th November 2022)

Authors:
Dai, Hongzheng; Zhu, Wenmiao; Yuan, Bo; Walley, Nicole; Schoch, Kelly; Jiang, Yong‐Hui; Phillips, John A.; Jones, Melissa S.; Liu, Pengfei; Murdock, David R.; Burrage, Lindsay C.; Lee, Brendan; Rosenfeld, Jill A.; Xiao, Rui
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1816
Record Type:
Journal Article
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4. Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions. Issue 12 (2nd October 2022)

Authors:
Davidson, Aimee L.; Kondrashova, Olga; Leonard, Conrad; Wood, Scott; Tudini, Emma; Hollway, Georgina E.; Pearson, John V.; Newell, Felicity; Spurdle, Amanda B.; Waddell, Nicola
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2054
Record Type:
Journal Article
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6. Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships. Issue 12 (17th October 2022)

Authors:
Chen, Ze‐Xu; Jia, Wan‐Nan; Sun, Yang; Chen, Tian‐Hui; Zhao, Zhen‐Nan; Lan, Li‐Na; Liu, Yan; Song, Ling‐Hao; Jiang, Yong‐Xiang
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2141
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Biallelic loss‐of‐function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans. Issue 12 (2nd October 2022)

Authors:
Wang, Guanxiong; Zhu, Xiaoyu; Gao, Yang; Lv, Mingrong; Li, Kuokuo; Tang, Dongdong; Wu, Huan; Xu, Chuan; Geng, Hao; Shen, Qunshan; Zha, Xiaomin; Duan, Zongliu; Zhang, Jingjing; Hua, Rong; Tao, Fangbiao; Zhou, Ping; Wei, Zhaolian; Cao, Yunxia; Guo, Rui; He, Xiaojin
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2079
Record Type:
Journal Article
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8. Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3. Issue 12 (8th October 2022)

Authors:
Simsek‐Kiper, Pelin Ozlem; Jacob, Prince; Upadhyai, Priyanka; Taşkıran, Zihni Ekim; Guleria, Vishal S.; Karaosmanoglu, Beren; Imren, Gozde; Gocmen, Rahsan; Bhavani, Gandham S.; Kausthubham, Neethukrishna; Shah, Hitesh; Utine, Gulen Eda; Boduroglu, Koray; Girisha, Katta M.
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2116
Record Type:
Journal Article
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10. Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy. Issue 12 (7th September 2022)

Authors:
Rius, Rocio; Bennett, Neal K.; Bhattacharya, Kaustuv; Riley, Lisa G.; Yüksel, Zafer; Formosa, Luke E.; Compton, Alison G.; Dale, Russell C.; Cowley, Mark J.; Gayevskiy, Velimir; Al Tala, Saeed M.; Almehery, Abdulrahman A.; Ryan, Michael T.; Thorburn, David R.; Nakamura, Ken; Christodoulou, John
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1970
Record Type:
Journal Article
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