Search

Author/Creator Ferber, Matthew J.

1. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021)

Authors:
Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L...
Journal:
Epilepsia
Issue:
Volume 62:issue 7(2021)
Page Start:
e103
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2). Issue 12 (22nd October 2018)

Authors:
Boczek, Nicole J.; Lahner, Carrie A.; Nguyen, Thuy‐mi; Ferber, Matthew J.; Hasadsri, Linda; Thorland, Erik C.; Niu, Zhiyv; Gavrilova, Ralitza H.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2798
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Implementing individualized medicine into the medical practice. Issue 1 (10th March 2014)

Authors:
Lazaridis, Konstantinos N.; MCAllister, Tammy M.; Babovic‐Vuksanovic, Dusica; Beck, Scott A.; Borad, Mitesh J.; Bryce, Alan H.; Chanan‐Khan, Asher A.; Ferber, Matthew J.; Fonseca, Rafael; Johnson, Kiley J.; Klee, Eric W.; Lindor, Noralane M.; MCCormick, Jennifer B.; MCWilliams, Robert R.; Parker,...
Journal:
American journal of medical genetics
Issue:
Volume 166:Issue 1(2014)
Page Start:
15
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism. Issue 9 (28th May 2014)

Authors:
Dhamija, Radhika; Kirmani, Salman; Wang, Xiangling; Ferber, Matthew J.; Wieben, Eric D.; Lazaridis, Konstantinos N.; Babovic‐Vuksanovic, Dusica
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 9(2014.)
Page Start:
2356
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Issue 5 (23rd July 2017)

Authors:
DeRycke, Melissa S.; Gunawardena, Shanaka; Balcom, Jessica R.; Pickart, Angela M.; Waltman, Lindsey A.; French, Amy J.; McDonnell, Shannon; Riska, Shaun M.; Fogarty, Zachary C.; Larson, Melissa C.; Middha, Sumit; Eckloff, Bruce W.; Asmann, Yan W.; Ferber, Matthew J.; Haile, Robert W.; Gallinger, ...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 5(2017)
Page Start:
553
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗