M. Rosenberg

发表

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

A. Guttmacher, L. Biesecker, J. Graham, 2001, Human Genetics.

Characterization of short tandem repeats from thirty-one human telomeres.

H. Nusbaum, L. Hui, T. Hudson, 1997, Genome research.

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

L. Biesecker, S. Yu, L. Weinstein, 2000, The Journal of clinical investigation.

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

L. Biesecker, C. Francomano, S. Chang, 1998, Human molecular genetics.

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities

D. Ledbetter, L. Biesecker, Y. Ning, 1996, Human Genetics.

PTEN mutations and Proteus syndrome

L. Biesecker, M. Cohen, S. Vacha, 2001, The Lancet.

Mutant deoxynucleotide carrier is associated with congenital microcephaly

Alejandro A. Schäffer, Richa Agarwala, Izabela Makalowska, 2002, Nature Genetics.

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

J. Flint, L. Gaunt, J. Clayton-Smith, 1999, Journal of medical genetics.

Detection of a subtle rearrangement of chromosome 22 using molecular techniques.

D. Ledbetter, L. Biesecker, Y. Ning, 1995, American journal of medical genetics.

Detection of chromosomal aberrations by a whole-genome microsatellite screen.

L. Biesecker, Y. Ning, R. Pauli, 2000, American journal of human genetics.

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer

D. Cooper, L. Biesecker, J. Johnston, 2003, Human Genetics.

Gene structure and allelic expression assay of the human GLI3 gene

L. Biesecker, S. Kang, M. Rosenberg, 1997, Human Genetics.