Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

By A. Sharp, S. Hansen, R. Selzer, Ze Cheng, R. Regan, J. Hurst, H. Stewart, S. Price, E. Blair, R. Hennekam and 10 more. Nature Genetics, 2006

638 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Plant Science

View Paper: https://www.semanticscholar.org/paper/1f6187292aacabd51a1dd2477ca1ffa2dee958f2

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Catherine Lord
2. A. Pickles
3. Thomas Bourgeron
4. Eric Fombonne
5. C. Betancur
6. Daniel H. Geschwind
7. Edwin H. Cook Jr.
8. Stephen W. Scherer

In Molecular Biology

1. Catherine Lord
2. C. Betancur
3. Daniel H. Geschwind
4. Thomas Bourgeron
5. Geraldine Dawson
6. Rudolph E. Tanzi
7. Chang-En Yu
8. Stephen W. Scherer

In Plant Science

1. Stephen W. Scherer
2. Edwin H. Cook Jr.

Citations in the corpus

• A Copy Number Variation Morbidity Map of Developmental Delay (2011, neutral): “First, except for CNV 'hotspots' flanked by duplications prone to unequal crossing over and elevated de novo mutation rate”
• Long-read human genome sequencing and its applications (2020, neutral): “The presence of these duplications was used to predict and discover recurrent rearrangements associated with developmental delay, microcephaly and macrocephaly 68,118,119 and later schizophrenia 67 (Fig.”