Search

Date 2021 Journal Human mutation

1. A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Issue 12 (4th October 2021)

Authors:
Ravel, Jean‐Marie; Dreumont, Natacha; Mosca, Pauline; Smith, Desiree E. C.; Mendes, Marisa I.; Wiedemann, Arnaud; Coelho, David; Schmitt, Emmanuelle; Rivière, Jean‐Baptiste; Tran Mau‐Them, Frédéric; Thevenon, Julien; Kuentz, Paul; Polivka, Marc; Fuchs, Sabine A.; Kok, Gautam; Thauvin‐Robinet, Chr...
Journal:
Human mutation
Issue:
Volume 42:Issue 12(2021)
Page Start:
1576
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects. Issue 12 (5th October 2021)

Authors:
George, Merin; Solanki, Avani; Chavan, Niranjan; Rajendran, Aruna; Raj, Revathi; Mohan, Sheila; Nemani, Sandeep; Kanvinde, Shailesh; Munirathnam, Deendayalan; Rao, Sudha; Radhakrishnan, Nita; Lashkari, Harsha Prasada; Ghildhiyal, Radha Gulati; Manglani, Mamta; Shanmukhaiah, Chandrakala; Bhat, Sun...
Journal:
Human mutation
Issue:
Volume 42:Issue 12(2021)
Page Start:
1648
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians. Issue 4 (1st March 2021)

Authors:
Kausthubham, Neethukrishna; Shukla, Anju; Gupta, Neerja; Bhavani, Gandham S.; Kulshrestha, Samarth; Das Bhowmik, Aneek; Moirangthem, Amita; Bijarnia‐Mahay, Sunita; Kabra, Madhulika; Puri, Ratna D.; Mandal, Kausik; Verma, Ishwar C.; Bielas, Stephanie L.; Phadke, Shubha R.; Dalal, Ashwin; Girisha, ...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
e15
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. 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) ↗

8. A family study implicates GBE1 in the etiology of autism spectrum disorder. Issue 1 (21st October 2021)

Authors:
Fanjul‐Fernández, Miriam; Brown, Natasha J.; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C.; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S.; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P.; Eichler, Evan E.; Del...
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
16
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons. Issue 5 (1st March 2021)

Authors:
Luna, Sandra; Torices, Leire; Mingo, Janire; Amo, Laura; Rodríguez‐Escudero, Isabel; Ruiz‐Ibarlucea, Pablo; Erramuzpe, Asier; Cortés, Jesús M.; Tejada, María I.; Molina, María; Nunes‐Xavier, Caroline E.; López, José I.; Cid, Víctor J.; Pulido, Rafael
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
551
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗