- Home
- Find a Researcher
- Karen W. Gripp, MD
Nemours Children's Hospital, Delaware
1600 Rockland Road
Wilmington,
DE
19803
Education & Training
Fellowship
Genetics - The Children's Hospital of Philadelphia, 1999
Internship Residency
Pediatrics - Thomas Jefferson University Hospital, 1995
Board Certifications
- American Board of Pediatrics/General Pediatrics
- American Board of Medical Genetics and Genomics/Clinical Molecular Genetics and Genomics
- American Board of Medical Genetics and Genomics/Clinical Genetics and Genomics
Genetics
- Hsieh, T.-C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K. W., Pantel, J. T., & Krawitz, P. M. (2022). GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nature Genetics. doi:10.1038/s41588-021-01010-x
View Full Publication - Fitzgerald, K. K., Powell-Hamilton, N., Shillingford, A. J., Robinson, B., & Gripp, K. W. (2021). Inherited intragenic PBX1 deletion: Expanding the phenotype. American Journal of Medical Genetics, Part A, 185(1), 234-237. doi:10.1002/ajmg.a.61932
View Full Publication - Davies, O. M. T., Garzon, M. C., Frieden, I. J., Cottrell, C. E., Gripp, K. W., Saneto, R. P., & Drolet, B. A. (2021). Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. Journal of the American Academy of Dermatology. doi:10.1016/j.jaad.2021.06.877
View Full Publication - Weaver, K. N., Care, M., Wakefield, E., Zarate, Y. A., Skoch, J., Gripp, K. W., & Prada, C. E. (2021). Craniosynostosis is a feature of Costello syndrome. American Journal of Medical Genetics, Part A. doi:10.1002/ajmg.a.62620
- Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., & Zarate, Y. A. (2021a). A dyadic approach to the delineation of diagnostic entities in clinical genomics. American Journal of Human Genetics, 108(1), 8-15. doi:10.1016/j.ajhg.2020.11.013
View Full Publication - Gripp, K. W., Jones, K. L., Wenger, T. L., Adam, M. P., & Smith Workshop Abstract Authors. (2021). 41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting. American journal of medical genetics. Part A. doi:10.1002/ajmg.a.62062
View Full Publication - Amlie-Wolf, L., Baker, L., Hiddemen, O., Thomas, M., Burke, C., Gluck, C., & Gripp, K. W. (2021). Novel genetic testing model: A collaboration between genetic counselors and nephrology. American Journal of Medical Genetics, Part A, 185(4), 1142-1150. doi:10.1002/ajmg.a.62088
View Full Publication - van Woerden, G. M., Bos, M., de Konink, C., Distel, B., Avagliano Trezza, R., Shur, N. E., & Kleefstra, T. (2021). TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Human Mutation, 42(4), 445-459. doi:10.1002/humu.24176
View Full Publication - Glinton, K. E., Hurst, A. C. E., Bowling, K. M., Cristian, I., Haynes, D., Adstamongkonkul, D., & Stankiewicz, P. (2021). Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. American Journal of Medical Genetics, Part A, 185(5), 1366-1378. doi:10.1002/ajmg.a.62102
View Full Publication - Harris, H. K., Nakayama, T., Lai, J., Zhao, B., Argyrou, N., Gubbels, C. S., & Yu, T. W. (2021). Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine, 23(6), 1028-1040. doi:10.1038/s41436-021-01114-z
View Full Publication - Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., & Quintero-Rivera, F. (2021). Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American Journal of Medical Genetics, Part A, 185(6), 1649-1665. doi:10.1002/ajmg.a.62124
View Full Publication - MacPherson, M. J., Erickson, S. L., Kopp, D., Wen, P., Aghanoori, M.-R., Kedia, S., & Yang, G. (2021). Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. Cell Reports, 35(10). doi:10.1016/j.celrep.2021.109226
View Full Publication - Gripp, K. W., Smithson, S. F., Scurr, I. J., Baptista, J., Majumdar, A., Pierre, G., & Kutsche, K. (2021). Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3:�a subgroup of K+ channelopathies. European Journal of Human Genetics, 29(9), 1384-1395. doi:10.1038/s41431-021-00818-9
View Full Publication - Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., & Zarate, Y. A. (2021b). Response to Hamosh et al. American Journal of Human Genetics, 108(9), 1809-1810. doi:10.1016/j.ajhg.2021.07.006
View Full Publication - Cook, K. J., Duong, B. Q., Seligson, N. D., Arn, P., Funanage, V. L., Gripp, K. W., & Blake, K. V. (2021). Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics. Clinical Pharmacology and Therapeutics, 110(3), 555-558. doi:10.1002/cpt.2328
View Full Publication - Lee, Y.-R., Khan, K., Armfield-Uhas, K., Srikanth, S., Thompson, N. A., Pardo, M., & Schwartz, C. E. (2020). Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature Communications, 11(1). doi:10.1038/s41467-020-17452-6
View Full Publication - Johnstone, D. L., Nguyen, T. T. M., Zambonin, J., Kernohan, K. D., St-Denis, A., Baratang, N. V., & Campeau, P. M. (2020). Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Journal of Inherited Metabolic Disease, 43(6), 1321-1332. doi:10.1002/jimd.12278
View Full Publication - Gripp, K. W., Baker, L., Robbins, K. M., Stabley, D. L., Bellus, G. A., Kolbe, V., & Rosenberger, G. (2020). The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. European Journal of Human Genetics, 28(11), 1548-1554. doi:10.1038/s41431-020-0662-4
View Full Publication - Shieh, C., Jones, N., Vanle, B., Au, M., Huang, A. Y., Silva, A. P. G., & The Undiagnosed Diseases Network. (2020b). GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genetics in Medicine, 22(5), 878-888. doi:10.1038/s41436-019-0747-z
View Full Publication - Shieh, C., Jones, N., Vanle, B., Au, M., Huang, A. Y., Silva, A. P. G., & The Undiagnosed Diseases Network. (2020a). Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (Genetics in Medicine, (2020), 10.1038/s41436-019-0747-z). Genetics in Medicine, 22(4), 822. doi:10.1038/s41436-020-0760-2
View Full Publication - Gross, A. M., Frone, M., Gripp, K. W., Gelb, B. D., Schoyer, L., Schill, L., & Yohe, M. E. (2020). Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. American Journal of Medical Genetics, Part A, 182(4), 866-876. doi:10.1002/ajmg.a.61485
View Full Publication - Gripp, K. W., Schill, L., Schoyer, L., Stronach, B., Bennett, A. M., Blaser, S., & Ratner, N. (2020). The sixth international RASopathies symposium: Precision medicine --�From promise to practice. American Journal of Medical Genetics, Part A, 182(3), 597-606. doi:10.1002/ajmg.a.61434
View Full Publication - Mak, C. C. Y., Doherty, D., Lin, A. E., Vegas, N., Cho, M. T., Viot, G., & Gordon, C. T. (2020). MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain, 143(1), 55-68. doi:10.1093/brain/awz379
View Full Publication - Shikany, A. R., Baker, L., Stabley, D. L., Robbins, K., Doyle, D., Gripp, K. W., & Weaver, K. N. (2020). Medically actionable comorbidities in adults with Costello syndrome. American Journal of Medical Genetics, Part A, 182(1), 130-136. doi:10.1002/ajmg.a.61394
View Full Publication - Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., & Messiaen, L. M. (2020). Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Human Mutation, 41(1), 299-315. doi:10.1002/humu.23929
View Full Publication - Chilton, I., Okur, V., Vitiello, G., Selicorni, A., Mariani, M., Goldenberg, A., & Chung, W. K. (2020). De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. American Journal of Medical Genetics, Part A, 182(5), 962-973. doi:10.1002/ajmg.a.61505
View Full Publication - Zarate, Y. A., Bosanko, K. A., & Gripp, K. W. (2019). Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution. Journal of Human Genetics, 64(12), 1243-1245. doi:10.1038/s10038-019-0673-6
View Full Publication - Hsieh, T.-C., Mensah, M. A., Pantel, J. T., Aguilar, D., Bar, O., Bayat, A., & Krawitz, P. M. (2019). PEDIA: prioritization of exome data by image analysis. Genetics in Medicine, 21(12), 2807-2814. doi:10.1038/s41436-019-0566-2
View Full Publication - Frints, S. G. M., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., & Kalscheuer, V. M. (2019). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry, 24(11), 1748-1768. doi:10.1038/s41380-018-0065-x
View Full Publication - Gripp, K. W., Morse, L. A., Axelrad, M., Chatfield, K. C., Chidekel, A., Dobyns, W., & Rauen, K. A. (2019). Costello syndrome: Clinical phenotype, genotype, and management guidelines. American Journal of Medical Genetics, Part A, 179(9), 1725-1744. doi:10.1002/ajmg.a.61270
View Full Publication - Liu, P., Meng, L., Normand, E. A., Xia, F., Song, X., Ghazi, A., & Yang, Y. (2019). Reanalysis of clinical exome sequencing data. New England Journal of Medicine, 380(25), 2478-2480. doi:10.1056/NEJMc1812033
View Full Publication - Bauer, C. K., Schneeberger, P. E., Kortum, F., Altmuller, J., Santos-Simarro, F., Baker, L., & Kutsche, K. (2019). Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. American Journal of Human Genetics, 104(6), 1139-1157. doi:10.1016/j.ajhg.2019.04.012
View Full Publication - Bend, E. G., Aref-Eshghi, E., Everman, D. B., Rogers, R. C., Cathey, S. S., Prijoles, E. J., & Sadikovic, B. (2019). Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. Clinical Epigenetics, 11(1). doi:10.1186/s13148-019-0658-5
View Full Publication - Krall, M., Htun, S., Schnur, R. E., Brooks, A. S., Baker, L., de Alba Campomanes, A., & Care 4 Rare Canada Consortium. (2019). Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. European Journal of Human Genetics, 27(4), 582-593. doi:10.1038/s41431-018-0298-9
View Full Publication - LaCroix, A. J., Stabley, D., Sahraoui, R., Adam, M. P., Mehaffey, M., Kernan, K., & University of Washington Center for Mendelian Genomics. (2019). GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics, 104(1), 35-44. doi:10.1016/j.ajhg.2018.11.005
View Full Publication - Gurovich, Y., Hanani, Y., Bar, O., Nadav, G., Fleischer, N., Gelbman, D., & Gripp, K. W. (2019). Identifying facial phenotypes of genetic disorders using deep learning. Nature Medicine, 25(1), 60-64. doi:10.1038/s41591-018-0279-0
View Full Publication - Rauen, K. A., Schoyer, L., Schill, L., Stronach, B., Albeck, J., Andresen, B. S., & McCormick, F. (2018). Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. American Journal of Medical Genetics, Part A, 176(12), 2924-2929. doi:10.1002/ajmg.a.40632
View Full Publication - Nikam, R. M., Gripp, K. W., Choudhary, A. K., & Kandula, V. (2018). Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy. American Journal of Medical Genetics, Part A, 176(12), 2787-2790. doi:10.1002/ajmg.a.40490
View Full Publication - Gelb, B. D., Cave, H., Dillon, M. W., Gripp, K. W., Lee, J. A., Mason-Suares, H., & for the ClinGen RASopathy Working Group. (2018). ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. Genetics in Medicine, 20(11), 1334-1345. doi:10.1038/gim.2018.3
View Full Publication - Grant, A. R., Cushman, B. J., Cave, H., Dillon, M. W., Gelb, B. D., Gripp, K. W., & Zenker, M. (2018). Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Human Mutation, 39(11), 1485-1493. doi:10.1002/humu.23624
View Full Publication - Biderman Waberski, M., Lindhurst, M., Keppler-Noreuil, K. M., Sapp, J. C., Baker, L., Gripp, K. W., & Biesecker, L. G. (2018). Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS). Genetics in Medicine, 20(9), 1077-1081. doi:10.1038/gim.2017.228
View Full Publication - Levin, Saitta, S. C., Gripp, K. W., Wenger, T. L., Ganesh, J., Kalish, J. M., & Lin, A. E. (2018). Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. American Journal of Medical Genetics, Part A, 176(8), 1711-1722. doi:10.1002/ajmg.a.38854
View Full Publication - Amudhavalli, S. M., Hanson, R., Angle, B., Bontempo, K., & Gripp, K. W. (2018). Further delineation of Ayme-Gripp syndrome and use of automated facial analysis tool. American Journal of Medical Genetics, Part A, 176(7), 1648-1656. doi:10.1002/ajmg.a.38832
View Full Publication - Powis, Z., Farwell Hagman, K. D., Mroske, C., McWalter, K., Cohen, J. S., Colombo, R., & Tang, S. (2018). Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Clinical Genetics, 93(4), 752-761. doi:10.1111/cge.13132
View Full Publication - Khajuria, R. K., Munschauer, M., Ulirsch, J. C., Fiorini, C., Ludwig, L. S., McFarland, S. K., & Sankaran, V. G. (2018). Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. Cell, 173(1), 90-103.e19. doi:10.1016/j.cell.2018.02.036
View Full Publication - Koczkowska, M., Chen, Y., Callens, T., Gomes, A., Sharp, A., Johnson, S., & Messiaen, L. M. (2018). Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American Journal of Human Genetics, 102(1), 69-87. doi:10.1016/j.ajhg.2017.12.001
View Full Publication - Lee, B. H., Reijnders, M. R. F., Abubakare, O., Tuttle, E., Lape, B., Minks, K. Q., & Paciorkowski, A. R. (2018). Expanding the neurodevelopmental phenotype of PURA syndrome. American Journal of Medical Genetics, Part A, 176(1), 56-67. doi:10.1002/ajmg.a.38521
View Full Publication - Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K. W., Flex, E., Barel, O., & Raas-Rothschild, A. (2017). Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. Clinical Genetics, 91(5), 725-738. doi:10.1111/cge.12914
View Full Publication - Higgins, E. M., Bos, J. M., Mason-Suares, H., Tester, D. J., Ackerman, J. P., MacRae, C. A., & Ackerman, M. J. (2017). Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. JCI Insight, 2(5). doi:10.1172/jci.insight.91225
- Chiu, A. T. G., Leung, G. K.-C., Chu, Y. W.-Y., Gripp, K. W., & Chung, B. H.-Y. (2017). A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146:�Literature review and update. American Journal of Medical Genetics, Part A, 173(4), 1109-1114. doi:10.1002/ajmg.a.38118
View Full Publication - Cartledge, D. M., Robbins, K. M., Drake, K. M., Sternberg, R., Stabley, D. L., Gripp, K. W., & Napper, A. D. (2017). Cytotoxicity of zardaverine in embryonal rhabdomyosarcoma from a Costello syndrome patient. Frontiers in Oncology, 7(APR). doi:10.3389/fonc.2017.00042
- Schwartz, D. D., Katzenstein, J. M., Highley, E. J., Stabley, D. L., Sol-Church, K., Gripp, K. W., & Axelrad, M. E. (2017). Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome. American Journal of Medical Genetics, Part A, 173(5), 1294-1300. doi:10.1002/ajmg.a.38174
View Full Publication - Bertola, D., Buscarilli, M., Stabley, D. L., Baker, L., Doyle, D., Bartholomew, D. W., & Gripp, K. W. (2017). Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. American Journal of Medical Genetics, Part A, 173(5), 1309-1318. doi:10.1002/ajmg.a.38178
View Full Publication - Zepeda-Mendoza, C. J., Ibn-Salem, J., Kammin, T., Harris, D. J., Rita, D., Gripp, K. W., & Morton, C. C. (2017). Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. American Journal of Human Genetics, 101(2), 206-217. doi:10.1016/j.ajhg.2017.06.011
View Full Publication - Gripp, K. W., Kolbe, V., Brandenstein, L. I., & Rosenberger, G. (2017). Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. Clinical Genetics, 92(3), 332-337. doi:10.1111/cge.12980
View Full Publication - Alcantara, D., Timms, A. E., Gripp, K., Baker, L., Park, K., Collins, S., & Mirzaa, G. M. (2017). Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain, 140(10), 2610-2622. doi:10.1093/brain/awx203
View Full Publication - Gripp, K. W., Baker, L., Kandula, V., Piatt, J., Walter, A., Chen, Z., & Messiaen, L. (2017). Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. Clinical Genetics, 92(5), 540-543. doi:10.1111/cge.13013
View Full Publication - Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., & Vanderver, A. (2017). X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics, 18(4), 185-194. doi:10.1007/s10048-017-0520-x
View Full Publication - Huang, L., Vanstone, M. R., Hartley, T., Osmond, M., Barrowman, N., Allanson, J., & Care4Rare Canada Consortium. (2016). Mandibulofacial dysostosis with microcephaly: Mutation and database update. Human Mutation, 37(2), 148-154. doi:10.1002/humu.22924
View Full Publication - Koenighofer, M., Hung, C. Y., Mccauley, J. L., Dallman, J., Back, E. J., Mihalek, I., & Bodamer, O. A. (2016). Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Clinical Genetics, 89(3), 359-366. doi:10.1111/cge.12608
View Full Publication - Gripp, K. W., Robbins, K. M., Sheffield, B. S., Lee, A. F., Patel, M. S., Yip, S., & Sol-Church, K. (2016). 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. American Journal of Medical Genetics, Part A, 170(3), 559-564. doi:10.1002/ajmg.a.37471
View Full Publication - Mulchandani, S., Bhoj, E. J., Luo, M., Powell-Hamilton, N., Jenny, K., Gripp, K. W., & Conlin, L. K. (2016). Maternal uniparental disomy of chromosome 20: A novel imprinting disorder of growth failure. Genetics in Medicine, 18(4), 309-315. doi:10.1038/gim.2015.103
View Full Publication - Mirzaa, G., Timms, A. E., Conti, V., Boyle, E. A., Girisha, K. M., Martin, B., & Dobyns, W. B. (2016). PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight, 1(9). doi:10.1172/JCI.INSIGHT.87623
View Full Publication - Gripp, K. W., Adam, M. P., Hudgins, L., & Carey, J. C. (2016). 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting. American Journal of Medical Genetics, Part A, 170(7), 1665-1726. doi:10.1002/ajmg.a.37600
- Gripp, K. W., Baker, L., Telegrafi, A., & Monaghan, K. G. (2016). The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. American Journal of Medical Genetics, Part A, 170(7), 1754-1762. doi:10.1002/ajmg.a.37672
View Full Publication - Stevenson, D. A., Schill, L., Schoyer, L., Andresen, B. S., Bakker, A., Bayrak-Toydemir, P., & Widemann, B. C. (2016). The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. American Journal of Medical Genetics, Part A, 170(8), 1959-1966. doi:10.1002/ajmg.a.37723
View Full Publication - Gripp, K. W., Aldinger, K. A., Bennett, J. T., Baker, L., Tusi, J., Powell-Hamilton, N., & Dobyns, W. B. (2016). A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. American Journal of Medical Genetics, Part A, 170(9), 2237-2247. doi:10.1002/ajmg.a.37781
View Full Publication - Gripp, K. W., Baker, L., Kandula, V., Conard, K., Scavina, M., Napoli, J. A., & Keppler-Noreuil, K. M. (2016). Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. American Journal of Medical Genetics, Part A, 170(10), 2559-2569. doi:10.1002/ajmg.a.37758
View Full Publication - Robbins, K. M., Stabley, D. L., Holbrook, J., Sahraoui, R., Sadreameli, A., Conard, K., & Sol-Church, K. (2016). Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. American Journal of Medical Genetics, Part A, 170(12), 3197-3206. doi:10.1002/ajmg.a.37949
View Full Publication - Gripp, K. W. (2015). Differentiating between copy-number-variation and gain-of-function mutation. American Journal of Medical Genetics, Part A, 167(11), 2684-2684. doi:10.1002/ajmg.a.37220
View Full Publication - Nevado, J., Rosenfeld, J. A., Mena, R., Palomares-Bralo, M., Vallespin, E., Mori, M. A., & Lapunzina, P. (2015). PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. European Journal of Human Genetics, 23(12), 1615-1626. doi:10.1038/ejhg.2015.51
View Full Publication - Rojnueangnit, K., Xie, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., & Messiaen, L. (2015). High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Human Mutation, 36(11), 1052-1063. doi:10.1002/humu.22832
View Full Publication - Gripp, K. W., Sol-Church, K., Smpokou, P., Graham, G. E., Stevenson, D. A., Hanson, H., & Rosenberger, G. (2015). An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. American Journal of Medical Genetics, Part A, 167(9), 2085-2097. doi:10.1002/ajmg.a.37128
View Full Publication - Korf, B., Ahmadian, R., Allanson, J., Aoki, Y., Bakker, A., Wright, E. B., & Schoyer, L. (2015). The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach. American Journal of Medical Genetics, Part A, 167(8), 1741-1746. doi:10.1002/ajmg.a.37089
View Full Publication - Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., & Tartaglia, M. (2015). Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies. American Journal of Human Genetics, 96(5), 816-825. doi:10.1016/j.ajhg.2015.03.001
View Full Publication - Izumi, K., Nakato, R., Zhang, Z., Edmondson, A. C., Noon, S., Dulik, M. C., & Krantz, I. D. (2015). Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nature Genetics, 47(4), 338-344. doi:10.1038/ng.3229
View Full Publication - Gripp, K. W., Robbins, K. M., Sobreira, N. L., Witmer, P. D., Bird, L. M., Avela, K., & Sol-Church, K. (2015). Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. American Journal of Medical Genetics, Part A, 167(2), 271-281. doi:10.1002/ajmg.a.36863
View Full Publication - Johnson, B., Goldberg-Strassler, D., Gripp, K., Thacker, M., Leoni, C., & Stevenson, D. (2015). Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. American Journal of Medical Genetics, Part A, 167(1), 40-44. doi:10.1002/ajmg.a.36828
View Full Publication
Choose a Region
Nemours has a number of service regions. Selecting your region will help us show you the right contact information and the most relevant content for you.