Literature DB >> 4304823

On lumpers and splitters, or the nosology of genetic disease.

V A McKusick.   

Abstract

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Year:  1969        PMID: 4304823     DOI: 10.1353/pbm.1969.0039

Source DB:  PubMed          Journal:  Perspect Biol Med        ISSN: 0031-5982            Impact factor:   1.416


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  27 in total

1.  The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.

Authors:  Victor A McKusick
Journal:  Trans Am Clin Climatol Assoc       Date:  2005

2.  The William Allan Memorial Award presented to Victor A. McKusick at the annual meeting of the American Society of Human Genetics.

Authors:  A G Motulsky
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

3.  Phenotypic diversity of human diseases resulting from allelic series.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

Review 4.  The evolution of human genetic studies of cleft lip and cleft palate.

Authors:  Mary L Marazita
Journal:  Annu Rev Genomics Hum Genet       Date:  2012-06-06       Impact factor: 8.929

5.  Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.

Authors:  Lisa Bastarache; Jacob J Hughey; Jeffrey A Goldstein; Julie A Bastraache; Satya Das; Neil Charles Zaki; Chenjie Zeng; Leigh Anne Tang; Dan M Roden; Joshua C Denny
Journal:  J Am Med Inform Assoc       Date:  2019-12-01       Impact factor: 4.497

6.  A vector space model approach to identify genetically related diseases.

Authors:  Indra Neil Sarkar
Journal:  J Am Med Inform Assoc       Date:  2012-01-06       Impact factor: 4.497

7.  Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Authors:  Jana Herholz; Alessandra Meloni; Mara Marongiu; Francesca Chiappe; Manila Deiana; Carmen Roche Herrero; Giuseppe Zampino; Hanan Hamamy; Yusra Zalloum; Per Erik Waaler; Giangiorgio Crisponi; Laura Crisponi; Frank Rutsch
Journal:  Eur J Hum Genet       Date:  2011-02-16       Impact factor: 4.246

8.  Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia.

Authors:  Pei-Lung Chen; Dimitrios Avramopoulos; Virginia K Lasseter; John A McGrath; M Daniele Fallin; Kung-Yee Liang; Gerald Nestadt; Ningping Feng; Gary Steel; Andrew S Cutting; Paula Wolyniec; Ann E Pulver; David Valle
Journal:  Am J Hum Genet       Date:  2009-01       Impact factor: 11.025

Review 9.  Genetic disorders presenting as "schizophrenia". Karl Bonhoeffer's early view of the psychoses in the light of medical genetics.

Authors:  P Propping
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 10.  The genetics of human autoimmune disease: A perspective on progress in the field and future directions.

Authors:  Michael F Seldin
Journal:  J Autoimmun       Date:  2015-09-04       Impact factor: 7.094

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