Search

Author/Creator Punj, Sumit

1. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021)

Authors:
van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
445
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Genotype–phenotype correlation at codon 1740 of SETD2. Issue 9 (24th July 2020)

Authors:
Rabin, Rachel; Radmanesh, Alireza; Glass, Ian A.; Dobyns, William B.; Aldinger, Kimberly A.; Shieh, Joseph T.; Romoser, Shelby; Bombei, Hannah; Dowsett, Leah; Trapane, Pamela; Bernat, John A.; Baker, Janice; Mendelsohn, Nancy J.; Popp, Bernt; Siekmeyer, Manuela; Sorge, Ina; Sansbury, Francis Hugh...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 9(2020)
Page Start:
2037
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. AhR activation increases IL‐2 production by alloreactive CD4+ T cells initiating the differentiation of mucosal‐homing Tim3+Lag3+ Tr1 cells. Issue 11 (15th September 2017)

Authors:
Ehrlich, Allison K.; Pennington, Jamie M.; Tilton, Susan; Wang, Xisheng; Marshall, Nikki B.; Rohlman, Diana; Funatake, Castle; Punj, Sumit; O'Donnell, Edmond; Yu, Zhen; Kolluri, Siva K.; Kerkvliet, Nancy I.
Journal:
European journal of immunology
Issue:
Volume 47:Issue 11(2017)
Page Start:
1989
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. A case for expanding carrier testing to include actionable X‐linked disorders. Issue 11 (19th September 2018)

Authors:
Rope, Alan F.; Kauffman, Tia L.; Himes, Pat; Amendola, Laura M.; Punj, Sumit; Akkari, Yassmine; Potter, Amiee; Davis, James V.; Schneider, Jennifer L.; Reiss, Jacob A.; Gilmore, Mari J.; McMullen, Carmit K.; Nickerson, Deborah A.; Richards, C. Sue; Jarvik, Gail P.; Wilfond, Benjamin S.; Goddard, ...
Journal:
Clinical case reports
Issue:
Volume 6:Issue 11(2018)
Page Start:
2092
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗