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Author/Creator Sol‐Church, Katia

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. Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome. Issue 5 (4th April 2017)

Authors:
Schwartz, David D.; Katzenstein, Jennifer M.; Highley, Eric J.; Stabley, Deborah L.; Sol‐Church, Katia; Gripp, Karen W.; Axelrad, Marni E.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1294
Record Type:
Journal Article
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4. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. (25th April 2015)

Authors:
Gripp, Karen W.; Sol‐Church, Katia; Smpokou, Patroula; Graham, Gail E.; Stevenson, David A.; Hanson, Heather; Viskochil, David H.; Baker, Laura C.; Russo, Bridget; Gardner, Nick; Stabley, Deborah L.; Kolbe, Verena; Rosenberger, Georg
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 9(2015:Sep.)
Page Start:
2085
Record Type:
Journal Article
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5. Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Issue 9 (18th June 2014)

Authors:
Gripp, Karen W.; Curry, Cynthia; Olney, Ann Haskins; Sandoval, Claudio; Fisher, Jamie; Chong, Jessica Xiao‐Ling; UW Center for Mendelian Genomics; Pilchman, Lisa; Sahraoui, Rebecca; Stabley, Deborah L.; Sol‐Church, Katia
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 9(2014.)
Page Start:
2240
Record Type:
Journal Article
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6. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis. Issue 10 (5th August 2013)

Authors:
Gripp, Karen W.; Zand, Dina J.; Demmer, Laurie; Anderson, Carol E.; Dobyns, William B.; Zackai, Elaine H.; Denenberg, Elizabeth; Jenny, Kim; Stabley, Deborah L.; Sol‐Church, Katia
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 10(2013:Oct.)
Page Start:
2420
Record Type:
Journal Article
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7. 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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8. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. Issue 12 (2nd September 2016)

Authors:
Robbins, Katherine M.; Stabley, Deborah L.; Holbrook, Jennifer; Sahraoui, Rebecca; Sadreameli, Alexa; Conard, Katrina; Baker, Laura; Gripp, Karen W.; Sol‐Church, Katia
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 12(2016)
Page Start:
3197
Record Type:
Journal Article
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10. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Issue 4 (21st March 2015)

Authors:
Stabley, Deborah L.; Harris, Ashlee W.; Holbrook, Jennifer; Chubbs, Nicholas J.; Lozo, Kevin W.; Crawford, Thomas O.; Swoboda, Kathryn J.; Funanage, Vicky L.; Wang, Wenlan; Mackenzie, William; Scavina, Mena; Sol‐Church, Katia; Butchbach, Matthew E. R.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 4(2015:Jul.)
Page Start:
248
Record Type:
Journal Article
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