Search

Author/Creator Mullegama, Sureni V.

1. Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. Issue 6 (18th April 2017)

Authors:
Mullegama, Sureni V.; Jensik, Phillip; Li, Chen; Dorrani, Naghmeh; Kantarci, Sibel; Blumberg, Bruce; Grody, Wayne W.; Strom, Samuel P.
Journal:
Clinical case reports
Issue:
Volume 5:Issue 6(2017)
Page Start:
833
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Issue 5 (11th March 2017)

Authors:
Mullegama, Sureni V.; Klein, Steven D.; Mulatinho, Milene V.; Senaratne, Tharanga Niroshini; Singh, Kathryn; Nguyen, Dzung C.; Gallant, Natalie M.; Strom, Samuel P.; Ghahremani, Shahnaz; Rao, Nagesh P.; Martinez‐Agosto, Julian A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1319
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype. Issue 12 (23rd September 2017)

Authors:
Chen, Li; Jensik, Philip J.; Alaimo, Joseph T.; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A.; Bernstein, Jonathan A.; Smith, Ann C. M.; Mullegama, Sureni V.; Saffen, David W.; Elsea, Sarah H.
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1774
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. (December 2015)

Authors:
Alaimo, Joseph T.; Barton, Laura V.; Mullegama, Sureni V.; Wills, Rachel D.; Foster, Rebecca H.; Elsea, Sarah H.
Journal:
Research in developmental disabilities
Issue:
Volume 47(2015:Dec.)
Page Start:
27
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Issue 2 (16th November 2018)

Authors:
Mullegama, Sureni V.; Klein, Steven D.; Signer, Rebecca H.; Vilain, Eric; Martinez‐Agosto, Julian A.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 2(2019)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Issue 2 (11th December 2021)

Authors:
Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane‐Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos‐Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denommé‐Pichon, Anne‐Sophie; Emrick, Lisa; Fa...
Journal:
Human mutation
Issue:
Volume 43:Issue 2(2022)
Page Start:
266
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗