K. Sol‐Church

发表

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome

D. Schwartz, K. Gripp, D. Stabley, 2009, American journal of medical genetics. Part A.

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

K. Gripp, D. Bartholomew, D. Bertola, 2017, American journal of medical genetics. Part A.

Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

J. Allanson, H. Cavé, K. Gripp, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

T. Crawford, K. Swoboda, J. Holbrook, 2017, Neuromuscular Disorders.

Somatic mosaicism for an HRAS mutation causes Costello syndrome

J. Hoffman, K. Gripp, D. Stabley, 2006, American journal of medical genetics. Part A.

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

D. Tester, M. Ackerman, K. Gripp, 2016, JCI insight.

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

E. Zackai, K. Gripp, W. Dobyns, 2013, American journal of medical genetics. Part A.

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome

K. Jones, K. Gripp, A. Lin, 2007, American journal of medical genetics. Part A.

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

K. Gripp, J. Holbrook, D. Stabley, 2016, American journal of medical genetics. Part A.

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

E. Zackai, P. Lapunzina, K. Gripp, 2006, American journal of medical genetics. Part A.

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

R. Tenconi, M. Tartaglia, R. Heller, 2011, American journal of medical genetics. Part A.

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient

A. Napper, K. Gripp, D. Stabley, 2017, Front. Oncol..

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

K. Gripp, D. Viskochil, D. Stevenson, 2015, American journal of medical genetics. Part A.

Expression and characterization of cathepsin P.

R. Mason, K. Sol‐Church, G. Lu, 2004, The Biochemical journal.

Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat.

Shawn W. Polson, Suzanne M. McCahan, Modupeore O. Adetunji, 2016, Molecular human reproduction.

Amino acid substitutions in the N-terminal segment of cystatin C create selective protein inhibitors of lysosomal cysteine proteinases.

M. Abrahamson, R. Mason, K. Sol‐Church, 1998, The Biochemical journal.

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing.

Cathy H. Wu, Shawn W. Polson, E. Crowgey, 2015, Journal of biomolecular techniques : JBT.

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism

H. Hakonarson, Cecilia Kim, R. Chiavacci, 2016, BMC Urology.

Normative growth charts for individuals with Costello syndrome

K. Gripp, J. Hoover-Fong, J. McGready, 2012, American journal of medical genetics. Part A.

Normative Growth Charts for Individuals With

K. Gripp, J. Hoover-Fong, J. McGready, 2012 .

Mouse cathepsin M, a placenta-specific lysosomal cysteine protease related to cathepsins L and P.

R. Mason, K. Sol‐Church, J. Frenck, 2000, Biochimica et biophysica acta.

Murine Spam1 mRNA: Involvement of AU‐rich elements in the 3′UTR and antisense RNA in its tight post‐transcriptional regulation in spermatids

P. Martin-DeLeon, Hong Zhang, D. Stabley, 2006, Molecular reproduction and development.

Expression of cysteine proteases in extraembryonic tissues during mouse embryogenesis.

J. Shipley, R. Mason, K. Sol‐Church, 1999, Archives of biochemistry and biophysics.

The Molecular Basis of Costello Syndrome

K. Gripp, K. Sol‐Church, 2009 .

Exploring whole genome amplification as a DNA recovery tool for molecular genetic studies.

J. Holbrook, D. Stabley, K. Sol‐Church, 2005, Journal of biomolecular techniques : JBT.

Evolution of placentally expressed cathepsins.

R. Mason, D. Stabley, K. Sol‐Church, 2002, Biochemical and biophysical research communications.

Characterization of mouse cathepsin R, a new member of a family of placentally expressed cysteine proteases.

R. Mason, K. Sol‐Church, G. Bertenshaw, 2000, Biochimica et biophysica acta.

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype

K. Gripp, N. Leonard, D. Stabley, 2012, American journal of medical genetics. Part A.

Paternal bias in parental origin of HRAS mutations in Costello syndrome

K. Gripp, D. Stabley, K. Sol‐Church, 2006, Human mutation.

Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)–Associated Pulmonary Vascular Disease

D. Witte, K. Gripp, R. Hopkin, 2014, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

C. Berul, K. Gripp, A. Lin, 2009, Prenatal diagnosis.

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review

K. Gripp, S. Sifakis, M. Raissaki, 2011, American journal of medical genetics. Part A.

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

K. Gripp, G. Rosenberger, D. Stabley, 2012, American journal of medical genetics. Part A.

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

C. Ahern, T. Cripe, B. Weigel, 2015, Pediatric blood & cancer.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Martin Kircher, George Anadiotis, Michael J Bamshad, 2019, American journal of human genetics.

Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome

K. Gripp, P. Waldron, D. Chute, 2007, American journal of medical genetics. Part A.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

S. Colan, K. Gripp, A. Lin, 2011, American journal of medical genetics. Part A.

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay

D. Krakow, W. Baratela, M. Bober, 2012, American journal of medical genetics. Part A.

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

E. Zackai, K. Doheny, L. Bird, 2015, American journal of medical genetics. Part A.

D. Schwartz, K. Gripp, D. Stabley, 2017, American journal of medical genetics. Part A.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

K. Gripp, J. Chong, C. Curry, 2014, American journal of medical genetics. Part A.

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair

K. Gripp, W. Dobyns, K. Aldinger, 2016, American journal of medical genetics. Part A.

Male‐to‐male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

K. Gripp, A. Lin, L. Demmer, 2009, American journal of medical genetics. Part A.

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

T. Crawford, M. Scavina, K. Swoboda, 2015, Molecular genetics & genomic medicine.

Living with Costello syndrome: Quality of life issues in older individuals

K. Gripp, A. Lin, J. Hossain, 2010, American journal of medical genetics. Part A.

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome

J. Carey, K. Gripp, E. Hopkins, 2011, American journal of medical genetics. Part A.

Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?

K. Gripp, A. Innes, J. Parboosingh, 2008, American journal of medical genetics. Part A.

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

S. Yip, K. Gripp, D. Stabley, 2016, American journal of medical genetics. Part A.

Meta‐Analysis of Genome‐Wide Scans Provides Evidence for Sex‐ and Site‐Specific Regulation of Bone Mass

Daniel L. Koller, D. Kiel, A. Uitterlinden, 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Novel surface expression of reticulocalbin 1 on bone endothelial cells and human prostate cancer cells is regulated by TNF‐α

Freddie L. Pruitt, K. Pienta, H. Chaib, 2008, Journal of cellular biochemistry.

Evolution of Placental Proteases

R. Mason, D. Stabley, K. Sol‐Church, 2002, Biological chemistry.

All sudden unexplained infant respiratory deaths may result from the same underlying mechanism

E. Donner, D. Mage, P. Fleming, 2012 .

Longitudinal assessment of cognitive characteristics in Costello syndrome

K. Gripp, D. Stabley, M. Axelrad, 2007, American journal of medical genetics. Part A.

Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory

D. Schwartz, K. Gripp, D. Stabley, 2013, American journal of medical genetics. Part A.

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density

M. Devoto, H. Rydbeck, D. Prockop, 2005, European Journal of Human Genetics.

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism

M. Levine, D. Doyle, K. Sol‐Church, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype

I. Mihalek, K. Gripp, G. Shi, 2016, Clinical genetics.

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density

M. Devoto, H. Rydbeck, D. Stabley, 2009, Osteoporosis International.

Cathepsin Q, a novel lysosomal cysteine protease highly expressed in placenta.

R. Mason, K. Sol‐Church, J. Frenck, 2000, Biochemical and biophysical research communications.

Assessing genotype–phenotype correlation in Costello syndrome using a severity score

K. Gripp, J. Hossain, Laura Conway, 2013, Genetics in Medicine.

Failure of shortening and inversion of the perinatal gubernaculum in the cryptorchid long-evans orl rat.

Suzanne M. McCahan, Liam Campion, D. Stabley, 2006, The Journal of urology.

Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder

J. Holbrook, D. Stabley, K. Sol‐Church, 2021, Otolaryngology case reports.

Novel surface expression of reticulocalbin 1 on bone endothelial cells and human prostate cancer cells is regulated by TNF‐α

Freddie L. Pruitt, K. Pienta, H. Chaib, 2008, Journal of Cellular Biochemistry.