Peter Nürnberg

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

Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 312 citations · Full text

Clinical Disorders, Psychiatry, Pitt-hopkins Syndrome +6

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Peter Nürnberg, Hölger Thiele, David Chandler et al. · Nature Genetics · 2001 · 240 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer et al. · Human Mutation · 2016 · 183 citations · Full text

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

William Dufour, Salem Alawbathani, Anne‐Sophie Jourdain et al. · Genetics in Medicine · 2022 · 13 citations

Altered Wnt Signaling, Transcriptional Regulation, Developmental Biology +9

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8

Denise Horn, Peter N. Robinson, Annett Böddrich et al. · Electrophoresis · 1996 · 12 citations