Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMES

1971 • 5,049 citations

Variable Number of Tandem Repeat (VNTR) Markers for Human Gene Mapping

1987 • 1,683 citations

A genetic linkage map of the human genome

1987 • 913 citations

Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

1981 • 910 citations

High Resolution of Human Chromosomes

1976 • 786 citations

Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17

1987 • 691 citations

The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability

2009 • 665 citations

An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes

1976 • 568 citations

Chromosome 5 allele loss in human colorectal carcinomas

1987 • 566 citations

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1986 • 468 citations

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1985 • 390 citations

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.

1986 • 240 citations

Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly

1984 • 222 citations

Familial Premature Ovarian Failure Due to an Interstitial Deletion of the Long Arm of the X Chromosome

1987 • 202 citations

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1987 • 192 citations

Miller-Dieker syndrome: Lissencephaly andmonosomy 17p

1983 • 186 citations

Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13.

1984 • 171 citations

Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis

1987 • 171 citations

Lissencephaly in 2 siblings

1963 • 161 citations

Regional mapping panel for human chromosome 17: Application to neurofibromatosis type 1

1987 • 120 citations

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13

1984 • 118 citations

Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

1987 • 85 citations

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

1986 • 75 citations

The Miller-Dieker Syndrome

1980 • 70 citations

Physical mapping studies on the human X chromosome in the region Xq27-Xqter

1987 • 62 citations

A hypervariable RFLP on chromosome 17pl3 is defined by an arbitrary single copy probe pl44-D6 [HGM9 No. D17S34]

1987 • 58 citations

Developmental aspects of lissencephaly and the lissencephaly syndromes.

1987 • 56 citations

A new R-banding technique in clinical cytogenetics

1980 • 50 citations

Chiasma derived genetic maps and recombination fractions: chromosome 1

1982 • 44 citations

A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17pl3

1986 • 39 citations

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

1987 • 36 citations

The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers

1984 • 33 citations

Progress towards construction of a total restriction fragment map of a human chromosome

1987 • 28 citations

Isolation and mapping of a polymorphic DNA sequence pYNH37.3 on chromosome 17p [D17S28]

1988 • 9 citations