Literature DB >> 12032513

Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics.

Charles R Scriver1.   

Abstract

Mesh：

Year:  2002        PMID： 12032513     DOI： 10.1067/mpd.2002.124316

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  10 in total

Review 1.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors:  Jeffrey E Ming; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

2.  Genetics, individuality, and medicine in the 21st century.

Authors:  David Valle
Journal:  Am J Hum Genet       Date:  2004-03       Impact factor: 11.025

3.  Are genes destiny? Have adenine, cytosine, guanine and thymine replaced Lachesis, Clotho and Atropos as the weavers of our fate?

Authors:  Leon Eisenberg
Journal:  World Psychiatry       Date:  2005-02       Impact factor: 49.548

4.  Genetics education for health professionals: a context.

Authors:  Joseph D McInerney
Journal:  J Genet Couns       Date:  2007-10-19       Impact factor: 2.537

5.  Connecting mutant phenylalanine hydroxylase with phenylketonuria.

Authors:  Shaomin Yan; Guang Wu
Journal:  J Clin Monit Comput       Date:  2008-09-05       Impact factor: 2.502

6.  Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.

Authors:  Dwight Cordero; Ralph Marcucio; Diane Hu; William Gaffield; Minal Tapadia; Jill A Helms
Journal:  J Clin Invest       Date:  2004-08       Impact factor: 14.808

Review 7.  After the genome--the phenome?

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

8.  Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

Authors:  Angel L Pey; Francois Stricher; Luis Serrano; Aurora Martinez
Journal:  Am J Hum Genet       Date:  2007-10-02       Impact factor: 11.025

9.  Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.

Authors:  Mark J McCabe; Carles Gaston-Massuet; Vaitsa Tziaferi; Louise C Gregory; Kyriaki S Alatzoglou; Massimo Signore; Eduardo Puelles; Dianne Gerrelli; I Sadaf Farooqi; Jamal Raza; Joanna Walker; Scott I Kavanaugh; Pei-San Tsai; Nelly Pitteloud; Juan-Pedro Martinez-Barbera; Mehul T Dattani
Journal:  J Clin Endocrinol Metab       Date:  2011-08-10       Impact factor: 5.958

10.  Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.

Authors:  Jerry Vockley; Steven F Dobrowolski; Georgianne L Arnold; Ruben Bonilla Guerrero; Terry G J Derks; David A Weinstein
Journal:  Mol Genet Metab       Date:  2019-07-19       Impact factor: 4.797
  10 in total

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