Primary Office

Nemours Children's Hospital, Delaware Nemours Children's Hospital, Delaware 1600 Rockland Road Wilmington, DE 19803 Appointment: (800) 416-4441

Get to Know Me

I’m a pediatrician, geneticist and genetic researcher, married with a daughter and two cats. I’m also an associate editor for a professional medical genetics journal. I chose to specialize in medical genetics because it has such a central role in many medical conditions affecting patients (young and old).

Why I Treat Children

I chose to be a pediatrician and geneticist in order to help families who are affected by genetic or congenital problems in their child. I enjoy the direct interaction with the families and patients.

What I'm Passionate About

I have an ongoing relationship with the Costello syndrome family support group. Costello syndrome is a very rare condition, and the affected individuals have multiple medical problems including tumor predisposition and intellectual disability.

How I Try to Make A Difference

I am deeply involved in research into genetic disorders, including Costello syndrome and other conditions. I have published numerous papers and received a number of awards for my work.

Education & Training

Fellowship

  • Genetics - The Children's Hospital of Philadelphia, 1999

Internship Residency

  • Pediatrics - Thomas Jefferson University Hospital, 1995

Medical/Dental School

  • MD - Universitat Hamburg, 1989

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

Awards & Recognition

  • 2016 Philadelphia Magazine's Top Doctors
  • 2015 Philadelphia Magazine's Top Doctors
  • 2014 Best Doctors in America
  • 2014 Delaware Today magazine, Top Doctors
  • 2013 Best Doctors in America
  • 2011 Best Doctors in America
  • 2003 John Opitz Young Investigator Award

Insurance Accepted

  • Aetna Better Health PA Kids HMO
  • Aetna HMO
  • Aetna PPO/POS/EPO
  • Amerihealth Caritas Delaware
  • Carefirst MD Community Health Plan Mcaid
  • Cigna/Great West HMO EPO POS
  • Cigna/Great West PPO
  • Delaware First Health
  • Devon Health Services
  • Fidelis Care NJ Medicaid HMO
  • First Health/Affordable PPO
  • Geisinger Health Plan Commercial
  • Global Medical Managment DE/PA
  • Health Partners Medicaid/Kidz Partner HMO
  • Highmark Blue Cross Blue Shield of Delaware
  • Highmark Medicaid Health Options
  • Horizon Blue Cross Blue Shield of New Jersey
  • Independance Blue Cross/Amerihealth/Keystone Health Plan
  • Insurance Administrators of America
  • INTEGRA Administrative Group (ClaimsBridge)
  • Keystone First Medicaid HMO
  • Lifetrac Transplant
  • Maryland Medicaid
  • Multiplan PPO
  • National Transplant (Humana)
  • New Jersey Medicaid
  • Pennsylvania Medicaid
  • Plan Vista/NPPN PPO
  • Preferred Healthcare PPO
  • Private Health Care Systems (PHCS)
  • Qualcare HMO/POS/PPO
  • Star Healthcare Network
  • Three Rivers Provider Network
  • Tricare/Humana Military Health Services/CHAMPVA
  • United Healthcare of the Mid-Atlantic
  • UPMC MCAID/CHIP PA DE
  • US Family Health Plan
  • Wellpoint Maryland Medcaid

Medical Interests

  • Congenital brain abnormalities
  • Craniofacial malformations
  • Diagnosis of congenital anomalies
  • Dysmorphology
  • Tumor predisposition syndromes

  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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