(Q24622470)

Emily H Turner

12

0 references

Deborah A Nickerson

19

Deborah A Nickerson

0 references

Heather C. Mefford

10

Heather C Mefford

0 references

Mark J Rieder

14

Mark J Rieder

0 references

Michael J Bamshad

20

Michael J Bamshad

0 references

Abigail W Bigham

2

Abigail W Bigham

0 references

Kati J Buckingham

3

Kati J Buckingham

0 references

Mark C Hannibal

4

Mark C Hannibal

0 references

Heidi I S Gildersleeve

6

Heidi I Gildersleeve

0 references

Anita E Beck

7

Anita E Beck

0 references

Holly K Tabor

8

Holly K Tabor

0 references

Choli Lee

11

Choli Lee

0 references

Tohru Ohta

17

Tohru Ohta

0 references

Norio Niikawa

18

Norio Niikawa

0 references

author name string

Sarah B Ng

1

0 references

Margaret J McMillin

5

0 references

Gregory M Cooper

9

0 references

Joshua D Smith

13

0 references

Koh-Ichiro Yoshiura

15

0 references

Naomichi Matsumoto

Exome sequencing identifies the cause of a mendelian disorder

16

0 references

language of work or name

English

0 references

publication date

September 2010

0 references

published in

Nature Genetics

0 references

volume

42

0 references

page(s)

790-3

0 references

issue

9

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Targeted capture and massively parallel sequencing of 12 human exomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

MLL2: A new mammalian member of the trx/MLL family of genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Distribution and intensity of constraint in mammalian genomic sequence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930028

Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20711175

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.646

1 reference

Dimensions Publication ID

774799

1040149061

0 references

Fatcat ID

release_j6337zb4orazjm2jdy43ygcmpa

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/j6337zb4orazjm2jdy43ygcmpa

mapped directly with Wikidata item

24 November 2022

based on heuristic

774799

1 reference

1 reference

1 reference