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Author/Creator Benke, Paul J.

1. An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Issue 1 (16th April 2022)

Authors:
Deisseroth, Cole A.; Lerma, Vanesa C.; Magyar, Christina L.; Pfliger, Jessica Mae; Nayak, Aarushi; Bliss, Nathan D.; LeMaire, Ashley W.; Narayanan, Vinodh; Balak, Christopher; Zanni, Ginevra; Valente, Enza Maria; Bertini, Enrico; Benke, Paul J.; Wangler, Michael F.; Chao, Hsiao‐Tuan
Journal:
Annals of neurology
Issue:
Volume 92:Issue 1(2022)
Page Start:
138
Record Type:
Journal Article
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2. Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. (May 2017)

Authors:
Benke, Paul J.; Hidalgo, Ryan J.; Braffman, Bruce H.; Jans, Judith; Gassen, Koen L.I. van; Sunbul, Rawda; El-Hattab, Ayman W.
Journal:
Journal of child neurology
Issue:
Volume 32:Number 6(2017:Jun.)
Page Start:
543
Record Type:
Journal Article
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3. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Issue 10 (14th September 2021)

Authors:
Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F.; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H.; Dean, S. Joy; Gooch, Catherine; Murray, Brianna K.; Swartz, Erin; Schrier Vergano, Samantha A.; Towne, Meghan C.; Nugent, Kimberly; Roeder, Elizabeth R.; Kresge, Christina; Pletc...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 10(2021)
Page Start:
n/a
Record Type:
Journal Article
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4. Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. Issue 1 (15th September 2014)

Authors:
Yang, Jie; Wang, Shih‐Kai; Choi, Murim; Reid, Bryan M.; Hu, Yuanyuan; Lee, Yuan‐Ling; Herzog, Curtis R.; Kim‐Berman, Hera; Lee, Moses; Benke, Paul J.; Kent Lloyd, K. C.; Simmer, James P.; Hu, Jan C.‐C.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 1(2015:Jan.)
Page Start:
40
Record Type:
Journal Article
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5. 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) ↗