Concepedia

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer, Sérgio B. Sousa, Armand Bottani, Jill Clayton‐Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring,

The American Journal of Human Genetics · 2007 · 323 citations · 24 references

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al. · Nature Genetics · 2004 · 1.3K citations

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

Andrew J. Sharp, S.K. Hansen, Rebecca R. Selzer et al. · Nature Genetics · 2006 · 664 citations

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt et al. · Nature Genetics · 2006 · 471 citations

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw‐Smith, Alan Pittman, Lionel Willatt et al. · Nature Genetics · 2006 · 372 citations

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B-Lymphocyte Development Is Regulated by the Combined Dosage of Three Basic Helix-Loop-Helix Genes, <i>E2A</i> , <i>E2-2</i> , and HEB†

Yuan Zhuang, Pei-Feng Cheng, Harold Weintraub · Molecular and Cellular Biology · 1996 · 343 citations · Full text

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