Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

D Botstein, N Risch - Nature genetics, 2003 - nature.com
The past two decades have witnessed an explosion in the identification, largely by positional
cloning, of genes associated with mendelian diseases. The roughly 1,200 genes that have …

The human genome project.

MV Olson - Proceedings of the National Academy of …, 1993 - National Acad Sciences
The Human Genome Project in the United States is now well underway. Its programmatic
direction was largely set by a National Research Council report issued in 1988. The broad …

Identification of the cystic fibrosis gene: chromosome walking and jumping

JM Rommens, MC Iannuzzi, B Kerem, ML Drumm… - Science, 1989 - science.org
An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning
of the cystic fibrosis gene and definition of its protein product. In the absence of direct …

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

HT Orr, M Chung, S Banfi, TJ Kwiatkowski Jr… - Nature …, 1993 - nature.com
Abstract Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder
characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2 …

Genomic structure of DNA encoding the lymphocyte homing receptor CD44 reveals at least 12 alternatively spliced exons.

GR Screaton, MV Bell, DG Jackson… - Proceedings of the …, 1992 - National Acad Sciences
The CD44 molecule is known to display extensive size heterogeneity, which has been
attributed both to alternative splicing and to differential glycosylation within the extracellular …

Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias.

S Ziemin-van der Poel, NR McCabe… - Proceedings of the …, 1991 - National Acad Sciences
Recurring chromosomal translocations involving chromosome 11, band q23, have been
observed in acute lymphoid leukemias and especially in acute myeloid leukemias. We …

Functional transplant of megabase human immunoglobulin loci recapitulates human antibody response in mice

MJ Mendez, LL Green, JRF Corvalan, XC Jia… - Nature …, 1997 - nature.com
We constructed two megabase-sized YACs containing large contiguous fragments of the
human heavy and kappa (κ) light chain immunoglobulin (Ig) loci in nearly germline …

A common language for physical mapping of the human genome

M Olson, L Hood, C Cantor, D Botstein - Science, 1989 - science.org
NA REPORT ISSUED IN JANUARY 1988, THE NATIONAL RE-search Council (NRC)
Committee on the Mapping and Sequencing of the Human Genome, on which the present …

Dysregulation of cyclin D1 by translocation into an IgH gamma switch region in two multiple myeloma cell lines [see comments]

M Chesi, PL Bergsagel, LA Brents, CM Smith… - 1996 - ashpublications.org
Translocations involving the IgH locus at chromosomal locus 14q32. 3 are a common event
in many B-cell malignancies. The translocations, which generally occur into JH and switch …

A trithorax–like gene is interrupted by chromosome 11q23 translocations in acute leukaemias

M Djabali, L Selleri, P Parry, M Bower, BD Young… - Nature …, 1992 - nature.com
Some acute lymphocytic leukaemias, particularly those in young children, are associated
with at (4; 11)(q21; q23) reciprocal translocation. We have cloned the translocation …