E-LIB Suche - Ergebnisse für: Mullegama, Sureni V. ( author )

1

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5..:

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA ( host institution ) ; Talkowski, Michael E. ( author ) ; Mullegama, Sureni V. ( author )...
The American Journal of Human Genetics. , 2011

Link: https://doi.org/10.1016/..

2

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1240 , 2024

Link: https://doi.org/10.1016/..

3

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 4 - p. 778-790 , 2024

Link: https://doi.org/10.1016/..

4

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
Genetics in Medicine. 25 (2023) 4 - p. 100003 , 2023

Link: https://doi.org/10.1016/..

5

The SHDRA syndrome-associated geneTMEM260encodes a protein-..:

Larsen, Ida Signe Bohse ; Povolo, Lorenzo ; Zhou, Luping...
Proceedings of the National Academy of Sciences. 120 (2023) 21 - p. , 2023

Link: https://doi.org/10.1073/..

6

Mosaic RAI1 variant in a Smith–Magenis syndrome patient wit..:

Kuroda, Yukiko ; Ritter, Alyssa ; Mullegama, Sureni V..
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3130-3134 , 2022

Link: https://doi.org/10.1002/..

7

De Novo ZMYND8 variants result in an autosomal dominant neu..:

Dias, Kerith-Rae ; Carlston, Colleen M. ; Blok, Laura E.R....
Genetics in Medicine. 24 (2022) 9 - p. 1952-1966 , 2022

Link: https://doi.org/10.1016/..

8

Transcriptome analysis of MBD5-associated neurodevelopmenta..:

Mullegama, Sureni V. ; Klein, Steven D. ; Williams, Stephen R....
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

9

Haploinsufficiency of SF3B2 causes craniofacial microsomia:

Timberlake, Andrew T. ; Griffin, Casey ; Heike, Carrie L....
Nature Communications. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

10

Biallelic variants in SLC38A3 encoding a glutamine transpor..:

Marafi, Dana ; Fatih, Jawid M ; Kaiyrzhanov, Rauan...
Brain. 145 (2021) 3 - p. 909-924 , 2021

Link: https://doi.org/10.1093/..

11

Expansion of the Genotypic and Phenotypic Spectrum of WASF1..:

Srivastava, Siddharth ; Macke, Erica L. ; Swanson, Lindsay C....
Brain Sciences. 11 (2021) 7 - p. 931 , 2021

Link: https://doi.org/10.3390/..

12

Mutations in STAG2 cause an X‐linked cohesinopathy associat..:

Mullegama, Sureni V. ; Klein, Steven D. ; Signer, Rebecca H....
Molecular Genetics & Genomic Medicine. 7 (2018) 2 - p. , 2018

Link: https://doi.org/10.1002/..

13

De novo loss‐of‐function variants in STAG2 are associated w..:

Mullegama, Sureni V. ; Klein, Steven D. ; Mulatinho, Milene V....
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1319-1327 , 2017

Link: https://doi.org/10.1002/..

14

Is it time to retire fragile X testing as a first-tier test..:

Mullegama, Sureni V ; Klein, Steven D ; Nguyen, Dzung C...
Genetics in Medicine. 19 (2017) 12 - p. 1380-1381 , 2017

Link: https://doi.org/10.1038/..

15

Coupling clinical exome sequencing with functional characte..:

Mullegama, Sureni V. ; Jensik, Phillip ; Li, Chen...
Clinical Case Reports. 5 (2017) 6 - p. 833-840 , 2017

Link: https://doi.org/10.1002/..