Facets

1919

#6371.2

Ueber einen Typ multipier Abartungen, vorwiegend am Sklettsystem.

Hurler syndrome (lipochondrodystrophy, gargoylism), earlier described by Hunter (No. 6371.1).

1927

#2856

Congenital cardiac disease by Maude Abbott. IN: Modern medicine: Its theory and practice, edited by Sir William Osler, assisted by Thomas McCrae. 3rd ed., 4, 612-812.

1928

#2652

Cancer and heredity.

By selective breeding over a period of 15 years, Slye produced generations of mice absolutely resistant to, or particularly susceptible to, cancer. She demonstrated that resistance is a Mendelian dominant and suscepti…

1928

#4958

Mongolism. A study of the physical and mental characteristics of mongolian imbeciles. Revised by H. G. Brainerd.

Down syndrome.

1936

#2865

Atlas of congenital cardiac disease.

1938

#13827

Cystic fibrosis of the pancreas and its relation to celiac disease: A clinical and pathological study.

Andersen was the first to describe the characteristic cystic fibrosis of the pancreas, and to correlate it with the lung and intestinal disease prominent in CF. She also was the first to hypotheize that cystic fibrosi…

1945

#3043

The surgical treatment of malformations of the heart in which there is pulmonary stenosis or pulmonary atresia.

The “Blalock-Taussig operation” for the relief of congenital defects of the pulmonary artery, Tetralogy of Fallot ("blue baby syndrome"). "The first surgical repair was carried out in 1944 at Johns Hopkins.[70] The pr…

1947

#2878

Congenital malformations of the heart.

This 618-page work, which required ten years to write, was the first "definitive textbook" of congenital heart defects, a subspecialty of pediatrics that Taussig created. The second edition, published in 1960, was ess…

1950

#12063

The origin and behavior of mutable loci in maize.

"In the summer of 1944 at Cold Spring Harbor Laboratory, McClintock systematic studies on the mechanisms of the mosaic color patterns of maize seed and the unstable inheritance of this mosaicism.[44] She identified tw…

1952

#3108.1

Christmas disease, a condition previously mistaken for haemophilia.

Christmas disease, hemophilia B, due to lack of Factor IX. Named after the patient whose case was the first recorded example. With six co-authors.

1953

#256.2

The detection of chromosomal sex in hermaphrodites from a skin biopsy.

Sex chromatin demonstrated in humans.

1958

#13560

The suppressor-mutator system of control of gene action in maize.

In this paper McClintock described a novel mobile genetic element that she called Suppressor-Mutator (Spm), and its complex regulation. She discovered that Spm could switch back and forth between an “inactive” form an…

1961

#256.7

Gene action in the X-chromosome of the mouse (Mus musculus L).

Theory of differential inactivation of the X-chromosome. See also Amer. J. hum. Genet., 1962, 14, 135-48.

1963

#3924.4

A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants.

Bacterial inhibition test for phenylketonuria.

1998

#11342

Complete genome sequence of treponema pallidum, the syphilis spirochete.

Order of authorship in the original publication: Fraser, Norris, Weinstock....Smith, Venter. Sequence of the genome of the bacterium that causes syphilis. (Thanks to Juan Weiss for this reference and its interpretation.)

2002

#11336

Genome sequence of the human malaria parasite Plasmodium falciparum.

Order of authorship in the original paper: Gardner, Hall, Fung.... Genome of the Plasmodium falciparum parasite carried by the mosquito that causes malaria in humans. (Thanks to Juan Weiss for this reference and its i…

2005

#11335

Characterization of the reconstructed 1918 Spanish Influenza Pandemic virus.

Order of authorship in the original publication: Tumpey, Basler, Aguilar... Taubenberger. Reconstruction of the genome of the 1918 Spanish Influenza virus from frozen tissue samples from a mass grave of victims of the…

2005

#11339

The genome of the African trypanosome Trypanosoma brucei.

Genome of the parasite that causes Sleeping Sickness. (Thanks to Juan Weiss for this reference and its interpretation.)

2007

#11338

Genome sequence of Aedes aegypti, a major arbovirus vector.

Order of authorship in the original publication: Nene, Wortman, Lawson.... Sequence of the genome of the mosquito that transmits Zika, Yellow fever, Dengue, Chikungunya, etc. (Thanks to Juan Weiss for this reference a…

2010

#7844

The Oxford handbook of the history of eugenics. Edited by Alison Bashford and Philippa Levine.

2016

#11409

Whole-genome characterization and strain comparison of VT2f-producing Escherichia coli causing hemolytic uremic syndrome.

Order of authorship in the original publication: Grande, Michelacci, Bondi.... Demonstration that a phage infecting E. coli conveys the genes into the E. coli that code for the production of the verotoxin that causes …

2019

#11398

Pathogen genomics in public health.

"An important transformation is under way in public health. Next-generation sequencing (also called “high-throughput sequencing”) is reshaping communicable disease surveillance, allowing for earlier detection and more…

2020

#11877

Clades of huge phages from across Earth's ecosystems.

Order of authorship in the original publication: Al-Shayeb, Sachdeva, Chen.... Doudna. Open access, available from nature.com at this link. This paper was a collaboration of about 50 scientists of diverse regions and …