Kala F Schilter

发表

Whole‐genome copy number variation analysis in anophthalmia and microphthalmia

H. Zimmerman, T. Bardakjian, L. Reis, 2013, Clinical genetics.

Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.

S. Thibodeau, Yan Lu, H. Jacob, 2015, Human molecular genetics.

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

U. Broeckel, B. Link, L. Reis, 2011, Investigative ophthalmology & visual science.

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

T. Bardakjian, J. Soucy, L. Reis, 2011, Clinical genetics.

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Donna M. Martin, U. Broeckel, O. Abdul-Rahman, 2011, Human Genetics.

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy

E. Worthey, D. Siegel, J. Prokop, 2017, American journal of medical genetics. Part A.

Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.

K. Holland, D. King, Donald G Basel, 2017, The Journal of investigative dermatology.

Identification of an Alu‐repeat‐mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype

E. Sorokina, L. Reis, E. Semina, 2015, Molecular genetics & genomic medicine.

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism

A. Lehman, H. Reddi, G. Scharer, 2023, Journal of Genetics.

Long-term retinal imaging of a case of suspected congenital rubella infection

Christopher S. Langlo, J. Carroll, M. Neitz, 2021, American journal of ophthalmology case reports.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

U. Broeckel, J. Murray, L. Reis, 2012, European Journal of Human Genetics.