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Author/Creator Stabley, Deborah

1. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Issue 9 (5th June 2016)

Authors:
Gripp, Karen W.; Aldinger, Kimberly A.; Bennett, James T.; Baker, Laura; Tusi, Jessica; Powell‐Hamilton, Nina; Stabley, Deborah; Sol‐Church, Katia; Timms, Andrew E.; Dobyns, William B.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2237
Record Type:
Journal Article
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2. A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra‐cranial solid tumors: A Children's Oncology Group Phase I Consortium report. Issue 5 (27th February 2015)

Authors:
Kolb, E . Anders; Sampson, Valerie; Stabley, Deborah; Walter, Alexa; Sol‐Church, Katia; Cripe, Timothy; Hingorani, Pooja; Ahern, Charlotte Hsieh; Weigel, Brenda J.; Zwiebel, James; Blaney, Susan M.
Journal:
Pediatric blood & cancer
Issue:
Volume 62:Issue 5(2015:May)Supplement
Page Start:
751
Record Type:
Journal Article
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3. Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)–Associated Pulmonary Vascular Disease. (November 2014)

Authors:
Weaver, K. Nicole; Wang, Dehua; Cnota, James; Gardner, Nicholas; Stabley, Deborah; Sol-Church, Katia; Gripp, Karen W.; Witte, David P.; Bove, Kevin E.; Hopkin, Robert J.
Journal:
Pediatric and developmental pathology
Issue:
Volume 17:Number 6(2014)
Page Start:
421
Record Type:
Journal Article
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4. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. Issue 1 (December 2016)

Authors:
Wang, Yanping; Li, Jin; Kolon, Thomas; Olivant Fisher, Alicia; Figueroa, T.; BaniHani, Ahmad; Hagerty, Jennifer; Gonzalez, Ricardo; Noh, Paul; Chiavacci, Rosetta; Harden, Kisha; Abrams, Debra; Stabley, Deborah; Kim, Cecilia; Sol-Church, Katia; Hakonarson, Hakon; Devoto, Marcella; Barthold, Julia
Journal:
BMC urology
Issue:
Volume 16:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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5. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith–Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. Issue 3 (17th November 2015)

Authors:
Gripp, Karen W.; Robbins, Katherine M.; Sheffield, Brandon S.; Lee, Anna F.; Patel, Millan S.; Yip, Stephen; Doyle, Daniel; Stabley, Deborah; Sol‐Church, Katia
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
559
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗