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Is Part Of Human mutation. Volume 42:Issue 10(2021)

1. A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. Issue 10 (1st August 2021)

Authors:
Loftus, Stacie K.; Lundh, Linnea; Watkins‐Chow, Dawn E.; Baxter, Laura L.; Pairo‐Castineira, Erola; NISC Comparative Sequencing Program, ; Jackson, Ian J.; Oetting, William S.; Pavan, William J.; Adams, David R.
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1239
Record Type:
Journal Article
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2. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Issue 10 (26th July 2021)

Authors:
Olinger, Eric; Alawi, Intisar Al; Al Riyami, Mohammed S.; Salmi, Isa Al; Molinari, Elisa; Faqeih, Eissa Ali; Al‐Hamed, Mohamed H.; Barroso‐Gil, Miguel; Powell, Laura; Al‐Hussaini, Abdulrahman A.; Rahim, Khawla A.; Almontashiri, Naif A. M.; Miles, Colin; Shril, Shirlee; Hildebrandt, Friedhelm; Con...
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1221
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B‐AS1. Issue 10 (29th June 2021)

Authors:
Ali, Mourad Wagdy; Patro, C. Pawan K.; Devall, Matthew; Dampier, Christopher H.; Plummer, Sarah J.; Kuscu, Cem; Adli, Mazhar; Lai, Rose K.; Casey, Graham
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1208
Record Type:
Journal Article
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7. Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction. Issue 10 (29th July 2021)

Authors:
Abou Ziki, Maen D.; Bhat, Neha; Neogi, Arpita; Driscoll, Tristan P.; Ugwu, Nelson; Liu, Ya; Smith, Emily; Abboud, Johny M.; Chouairi, Salah; Schwartz, Martin A.; Akar, Joseph G.; Mani, Arya
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1279
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency. Issue 10 (3rd August 2021)

Authors:
Deshpande, Dipti; Gupta, Shailesh Kumar; Sarma, Asodu Sandeep; Ranganath, Prajnya; Jain S., Jamal Md Nurul; Sheth, Jayesh; Mistri, Mehul; Gupta, Neerja; Kabra, Madhulika; Phadke, Shubha R.; Girisha, Katta M.; Dua Puri, Ratna; Aggarwal, Shagun; Datar, Chaitanya; Mandal, Kausik; Tilak, Preetha; Mur...
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1336
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing. Issue 10 (17th July 2021)

Authors:
Tran, Ngoc Hieu; Nguyen Thi, Thanh‐Huong; Tang, Hung‐Sang; Hoang, Le‐Phuc; Nguyen, Trung‐Hieu Le; Tran, Nhat‐Thang; Trinh, Thu‐Huong Nhat; Nguyen, Van Thong; Nguyen, Bao‐Han Huu; Nguyen, Hieu Trong; Doan, Loc Phuoc; Phan, Ngoc‐Minh; Nguyen, Kim‐Huong Thi; Nguyen, Hong‐Dang Luu; Quach, Minh‐Tam Th...
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1229
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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