The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases (Q33903384)

29 July 2017

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases (English)

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29 July 2017

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19

James C Mullikin

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29 July 2017

William A Gahl

1

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29 July 2017

Thomas C Markello

2

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29 July 2017

Camilo Toro

3

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29 July 2017

Karin Fuentes Fajardo

4

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29 July 2017

Murat Sincan

5

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29 July 2017

Fred Gill

6

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29 July 2017

Hannah Carlson-Donohoe

7

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29 July 2017

Andrea Gropman

8

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29 July 2017

Tyler Mark Pierson

9

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29 July 2017

Gretchen Golas

10

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29 July 2017

Lynne Wolfe

11

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29 July 2017

Catherine Groden

12

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29 July 2017

Rena Godfrey

13

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29 July 2017

Michele Nehrebecky

14

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29 July 2017

Colleen Wahl

15

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29 July 2017

Dennis M D Landis

16

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29 July 2017

Sandra Yang

17

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29 July 2017

Anne Madeo

18

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29 July 2017

Cornelius F Boerkoel

20

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29 July 2017

Cynthia J Tifft

21

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29 July 2017

David Adams

22

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29 July 2017

language of work or name

English

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publication date

26 September 2011

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29 July 2017

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29 July 2017

14

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29 July 2017

51-59

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29 July 2017

1

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https://scigraph.springernature.com/pub.10.1038/gim.0b013e318232a005

29 July 2017

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cites work

NT5E mutations and arterial calcifications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

CDD: a Conserved Domain Database for the functional annotation of proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Highly scalable genotype phasing by entropy minimization.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Physiological roles for ecto-5'-nucleotidase (CD73).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Advances in measuring cellular bioenergetics using extracellular flux

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

dbSNP: the NCBI database of genetic variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Accurate whole human genome sequencing using reversible terminator chemistry

28 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E318232A005

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E318232A005

Lamin B1 duplications cause autosomal dominant leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E318232A005

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E318232A005

Ceruloplasmin metabolism and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E318232A005

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E318232A005

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Functional evaluation of paraplegin mutations by a yeast complementation assay

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098846

Analysis of the probability distribution of small random samples by nonlinear fitting of integrated probabilities

29 October 2018

1 reference

12 December 2020

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

1 reference

12 December 2020

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12 December 2020

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

1 reference

12 December 2020

The NIH Undiagnosed Diseases Program: lessons learned

1 reference

12 December 2020

10.1038/GIM.0B013E318232A005

Identifiers

DOI

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Dimensions Publication ID

29 July 2017

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29 July 2017

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