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Items: 1 to 20 of 31

1.
Cancer in Costello syndrome: a systematic review and meta-analysis
Esteban Astiazaran-Symonds, Gina M. Ney, Cecilia Higgs, Leatrisse Oba, Radhika Srivastava, Alicia A. Livinski, Philip S. Rosenberg, Douglas R. Stewart
Br J Cancer. 2023 Jun 15; 128(11): 2089–2096. Published online 2023 Mar 25. doi: 10.1038/s41416-023-02229-7
PMCID:
PMC10205753
AbstractArticlePDF–902K
2.
Costello syndrome: Clinical phenotype, genotype, and management guidelines
Karen W. Gripp, Lindsey A. Morse, Marni Axelrad, Kathryn C. Chatfield, Aaron Chidekel, William Dobyns, Daniel Doyle, Bronwyn Kerr, Angela E. Lin, David D. Schwartz, Barbara J. Sibbles, Dawn Siegel, Suma P. Shankar, David A. Stevenson, Mihir M. Thacker, K. Nicole Weaver, Sue M. White, Katherine A. Rauen
Am J Med Genet A. Author manuscript; available in PMC 2021 Jun 28.
Published in final edited form as: Am J Med Genet A. 2019 Sep; 179(9): 1725–1744. Published online 2019 Jun 20. doi: 10.1002/ajmg.a.61270
PMCID:
PMC8238015
AbstractArticlePDF–953K
3.
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino
Orphanet J Rare Dis. 2021; 16: 43. Published online 2021 Jan 22. doi: 10.1186/s13023-021-01674-y
PMCID:
PMC7821553
AbstractArticlePDF–1.1M
4.
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
Karen W. Gripp, Laura Baker, Katherine M. Robbins, Deborah L. Stabley, Gary A. Bellus, Verena Kolbe, Theresa Nauth, Georg Rosenberger
Eur J Hum Genet. 2020 Nov; 28(11): 1548–1554. Published online 2020 Jun 4. doi: 10.1038/s41431-020-0662-4
PMCID:
PMC7576819
AbstractArticlePDF–2.9M
5.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
6.
Hypertrophic Cardiomyopathy in Noonan syndrome treated by MEK-inhibition
Gregor Andelfinger, Christopher Marquis, Marie-Josée Raboisson, Yves Théoret, Stephan Waldmüller, Gesa Wiegand, Bruce D. Gelb, Martin Zenker, Marie-Ange Delrue, Michael Hofbeck
J Am Coll Cardiol. Author manuscript; available in PMC 2020 May 7.
Published in final edited form as: J Am Coll Cardiol. 2019 May 7; 73(17): 2237–2239. doi: 10.1016/j.jacc.2019.01.066
PMCID:
PMC6916648
ArticlePDF–445K
7.
Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Andrew R. Grant, Brandon J. Cushman, Hélène Cavé, Mitchell W. Dillon, Bruce D. Gelb, Karen W. Gripp, Jennifer A. Lee, Heather Mason-Suares, Katherine A. Rauen, Marco Tartaglia, Lisa M. Vincent, Martin Zenker
Hum Mutat. Author manuscript; available in PMC 2019 Nov 1.
Published in final edited form as: Hum Mutat. 2018 Nov; 39(11): 1485–1493. doi: 10.1002/humu.23624
PMCID:
PMC6326381
AbstractArticlePDF–94K
8.
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
Mark D. Levin, Sulagna C. Saitta, Karen W. Gripp, Tara L. Wenger, Jaya Ganesh, Jennifer M. Kalish, Michael R. Epstein, Rosemarie Smith, Richard J. Czosek, Stephanie M. Ware, Paula Goldenberg, Angela Myers, Kathryn C. Chatfield, Matthew J. Gillespie, Elaine H. Zackai, Angela E. Lin
Am J Med Genet A. Author manuscript; available in PMC 2019 Feb 1.
Published in final edited form as: Am J Med Genet A. 2018 Aug; 176(8): 1711–1722. Published online 2018 Jul 28. doi: 10.1002/ajmg.a.38854
PMCID:
PMC6107379
AbstractArticlePDF–823K
9.
Respiratory System Involvement in Costello Syndrome
Natalia Gomez-Ospina, Christin Kuo, Amitha Lakshmi Ananth, Angela Myers, Marie-Luise Brennan, David A Stevenson, Jonathan A Bernstein, Louanne Hudgins
Am J Med Genet A. Author manuscript; available in PMC 2017 Jul 14.
Published in final edited form as: Am J Med Genet A. 2016 Jul; 170(7): 1849–1857. Published online 2016 Apr 22. doi: 10.1002/ajmg.a.37655
PMCID:
PMC5509842
AbstractArticlePDF–376K
10.
Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp
Débora Bertola, Michelle Buscarilli, Deborah L. Stabley, Laura Baker, Daniel Doyle, Dennis W. Bartholomew, Katia Sol-Church, Karen W. Gripp
Am J Med Genet A. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Am J Med Genet A. 2017 May; 173(5): 1309–1318. Published online 2017 Apr 3. doi: 10.1002/ajmg.a.38178
PMCID:
PMC5397353
AbstractArticlePDF–564K
11.
Age-Related Differences in Prevalence of Autism Spectrum Disorder Symptoms in Children and Adolescents with Costello Syndrome
David Schwartz, Jennifer M. Katzenstein, Eric J. Highley, Deborah L. Stabley, Katia Sol-Church, Karen W. Gripp, Marni Axelrad
Am J Med Genet A. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Am J Med Genet A. 2017 May; 173(5): 1294–1300. Published online 2017 Apr 4. doi: 10.1002/ajmg.a.38174
PMCID:
PMC5397350
AbstractArticlePDF–380K
12.
Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma
Katherine M. Robbins, Deborah L. Stabley, Jennifer Holbrook, Rebecca Sahraoui, Alexa Sadreameli, Katrina Conard, Laura Baker, Karen W. Gripp, Katia Sol-Church
Am J Med Genet A. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2016 Dec; 170(12): 3197–3206. Published online 2016 Sep 2. doi: 10.1002/ajmg.a.37949
PMCID:
PMC5130350
AbstractArticlePDF–826K
13.
Cutaneous-Skeletal Hypophosphatemia Syndrome is a Multilineage Somatic Mosaic RASopathy
Young H. Lim, Diana Ovejero, Kristina M. Derrick, Yale Center for Mendelian Genomics, Michael T. Collins, Keith A. Choate
J Am Acad Dermatol. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: J Am Acad Dermatol. 2016 Aug; 75(2): 420–427. doi: 10.1016/j.jaad.2015.11.012
PMCID:
PMC5004488
AbstractArticlePDF–301K
14.
High Incidence of Progressive Postnatal Cerebellar Enlargement in Costello Syndrome: Brain Overgrowth Associated with HRAS Mutations as the Likely Cause of Structural Brain and Spinal Cord Abnormalities
Karen W. Gripp, Elisabeth Hopkins, Daniel Doyle, William B. Dobyns
Am J Med Genet A. Author manuscript; available in PMC 2016 Jun 16.
Published in final edited form as: Am J Med Genet A. 2010 May; 152A(5): 1161–1168. doi: 10.1002/ajmg.a.33391
PMCID:
PMC4910816
AbstractArticlePDF–709K
15.
An Attenuated Phenotype of Costello Syndrome in Three Unrelated Individuals with a HRAS c.179G>A (p.Gly60Asp) Correlates with Uncommon Functional Consequences
Karen W. Gripp, Katia Sol-Church, Patroula Smpokou, Gail E. Graham, David A. Stevenson, Heather Hanson, David H. Viskochil, Laura C. Baker, Bridget Russo, Nick Gardner, Deborah L. Stabley, Verena Kolbe, Georg Rosenberger
Am J Med Genet A. Author manuscript; available in PMC 2016 Apr 13.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167A(9): 2085–2097. Published online 2015 Apr 25. doi: 10.1002/ajmg.a.37128
PMCID:
PMC4830354
AbstractArticlePDF–1.0M
16.
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
Karen W. Gripp, Katherine M. Robbins, Brandon S. Sheffield, Anna F. Lee, Millan S. Patel, Stephen Yip, Daniel Doyle, Deborah Stabley, Katia Sol-Church
Am J Med Genet A. Author manuscript; available in PMC 2016 Mar 9.
Published in final edited form as: Am J Med Genet A. 2016 Mar; 170(3): 559–564. Published online 2015 Nov 17. doi: 10.1002/ajmg.a.37471
PMCID:
PMC4784973
AbstractArticlePDF–352K
17.
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding
Rosalinda Calandrelli, Gabriella D’Apolito, Marco Panfili, Giuseppe Zampino, Tommaso Tartaglione, Cesare Colosimo
Neuroradiol J. 2015 Jun; 28(3): 254–258. doi: 10.1177/1971400915592549
PMCID:
PMC4757298
AbstractArticle
18.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
19.
Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease
K. Nicole Weaver, Dehua Wang, James Cnota, Nicholas Gardner, Deborah Stabley, Katia Sol-Church, Karen W. Gripp, David P. Witte, Kevin E. Bove, Robert J. Hopkin
Pediatr Dev Pathol. Author manuscript; available in PMC 2015 Jan 15.
Published in final edited form as: Pediatr Dev Pathol. 2014 Nov-Dec; 17(6): 421–430. Published online 2014 Aug 18. doi: 10.2350/14-05-1488-OA.1
PMCID:
PMC4294968
AbstractArticlePDF–6.2M
20.
Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C
Karen W. Gripp, Elizabeth Hopkins, Katia Sol-Church, Deborah L. Stabley, Marni E. Axelrad, Daniel Doyle, William B. Dobyns, Cindy Hudson, John Johnson, Romano Tenconi, Gail E. Graham, Ana Berta Sousa, Raoul Heller, Maria Piccione, Giovanni Corsello, Gail E. Herman, Marco Tartaglia, Angela E. Lin
Am J Med Genet A. Author manuscript; available in PMC 2014 Sep 18.
Published in final edited form as: Am J Med Genet A. 2011 Apr; 0(4): 706–716. Published online 2011 Mar 15. doi: 10.1002/ajmg.a.33884
PMCID:
PMC4166651
AbstractArticlePDF–625K

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