P. Roberts

发表

Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing

L. Wilkins-Haug, Stephanie H. Guseh, K. Gray, 2021, Genetics in Medicine.

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

R. Lazarus, D. Kwiatkowski, J. Bissler, 2007, Human Genetics.

Clinical characteristics of tuberous sclerosis complex in patients with no TSC1 or TSC2 mutations identified

D. Kwiatkowski, S. Jóźwiak, P. Roberts, 2006 .

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation

F. Dubeau, F. Andermann, A. V. D. van den Ouweland, 2006, Annals of neurology.

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis

D. Kwiatkowski, E. Thiele, S. Jóźwiak, 2004, Journal of Medical Genetics.

Pathogenesis of Tuberous Sclerosis Subependymal Giant Cell Astrocytomas: Biallelic Inactivation of TSC1 or TSC2 Leads to mTOR Activation

Hongbing Zhang, D. Kwiatkowski, J. Chan, 2004, Journal of neuropathology and experimental neurology.

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation

P. Huttenlocher, D. Kwiatkowski, R. Wollmann, 2003, Neurology.

A 34 bp Deletion Within TSC2 is a Rare Polymorphism, not a Pathogenic Mutation

D. Kwiatkowski, V. Ramesh, P. Roberts, 2003, Annals of human genetics.

Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene.

D. Kwiatkowski, S. Jóźwiak, P. Roberts, 2001, Journal of biochemical and biophysical methods.

High Fetal Fraction on First Trimester Cell-Free DNA Aneuploidy Screening and Adverse Pregnancy Outcomes

P. Roberts, I. Goldfarb, L. Shook, 2019, American Journal of Perinatology.

Low Fetal Fraction and Birth Weight in Women with Negative First-Trimester Cell-Free DNA Screening

P. Roberts, I. Goldfarb, L. Shook, 2019, American Journal of Perinatology.

Clinical and Genotype Studies of Cardiac Tumors in 154 Patients With Tuberous Sclerosis Complex

D. Kwiatkowski, K. Kotulska, S. Jóźwiak, 2006, Pediatrics.

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

D. Kwiatkowski, E. Thiele, S. Jóźwiak, 2001, American journal of human genetics.

Tiptoe through the tulips - cultural history, molecular phylogenetics and classification of Tulipa (Liliaceae)

M. Chase, M. Fay, R. Govaerts, 2013 .

SNP identification, haplotype analysis, and parental origin of mutations in TSC2

Elizabeth A. Thiele, David J. Kwiatkowski, Sergiusz Jozwiak, 2002, Human Genetics.

Association between a High-Expressing Interferon-g Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC 2 Patients

D. Kwiatkowski, E. Thiele, J. Bissler, 2007 .

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

D. Kwiatkowski, E. Thiele, J. Bissler, 2002, American journal of human genetics.