Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome.

Down syndrome phenotypes: the consequences of chromosomal imbalance.

1994 • 731 citations

Positional cloning moves from perditional to traditional

1995 • 603 citations

The Drosophila single-minded gene encodes a helix-loop-helix protein that acts as a master regulator of CNS midline development

1991 • 501 citations

Continuum of overlapping clones spanning the entire human chromosome 21q

1992 • 393 citations

The Drosophila single-minded gene encodes a nuclear protein with sequence similarity to the per gene product

1988 • 353 citations

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

1989 • 260 citations

The single-minded gene of Drosophila is required for the expression of genes important for the development of CNS midline cells

1990 • 241 citations

Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies.

1992 • 138 citations

A fine-structure deletion map of human chromosome 11p: Analysis of J1 series hybrids

1989 • 126 citations

Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly

1989 • 114 citations

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

1994 • 113 citations

Physical mapping of the holoprosencephaly critical region in 18p11.3.

1995 • 98 citations

Physical mapping of the holoprosencephaly critical region on chromosome 7q36

1993 • 93 citations

Isolation of chromosome 21–specific yeast artificial chromosomes from a total human genome library

1992 • 88 citations

Partial physical map of human chromosome 21

1988 • 87 citations

Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

1986 • 82 citations

Report of the committee on clinical disorders, chromosome aberrations and uniparental disomy

1991 • 69 citations

A transcript map of the Down syndrome critical region on chromosome 21

1994 • 51 citations

Sublocalization on chromosome 21 of human interferon-alpha receptor gene and the gene for an interferon-gamma response protein

1990 • 47 citations

Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)

1990 • 41 citations

Irradiation-reduced human chromosome 21 hybrids

1988 • 38 citations

Drosophila single‐minded gene and the molecular genetics of CNS midline development

1992 • 35 citations

Report of the fourth international workshop on human chromosome 21

1993 • 34 citations

Localization of the Squalene Synthase Gene (FDFT1) to Human Chromosome 8p22-p23.1

1994 • 34 citations

Report of the Fifth International Workshop on Human Chromosome 21 Mapping 1994

1995 • 30 citations

A male infant with holoprosencephaly, associated with ring chromosome 21

1987 • 27 citations

Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies.

1992 • 23 citations