Lisa Baumbach

Recurrent Third-Trimester Fetal Loss and Maternal Mosaicism for Long-QT Syndrome

R. Myerburg, N. Bishopric, G. Wolff, 2004, Circulation.

Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.

J. Guevara-Aguirre, M. Guevara-Aguirre, A. Rosenbloom, 2007, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Yeast Augmented Network Analysis (YANA): a new systems approach to identify therapeutic targets for human genetic diseases

Xiaodong Cai, C. Beattie, G. D'Urso, 2014, F1000Research.

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Tsviya Olender, Doron Lancet, Jacques S. Beckmann, 2001, Nature Genetics.

Analysis of CpG C‐to‐T mutations in neurofibromatosis type 1

D. J. Driscoll, F. Collins, M. Wallace, 1998, Human mutation.

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

Andrej Sali, Rachel Karchin, Rebecca Sutphen, 2007, Cancer research.

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat

C. Singer, S. Papapetropoulos, B. Bowen, 2005, Movement disorders : official journal of the Movement Disorder Society.

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.

T C Matise, F Greenberg, T. Matise, 1995, Human molecular genetics.

Clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy.

R. Hennekam, M. Weisman, L. Baumbach, 1998, Arthritis and rheumatism.

Evidence for a BRCA1 founder mutation in families of West African ancestry.

H. Mefford, M. King, C. Szabo, 1999, American journal of human genetics.