(Q28260677)

15

0 references

Jay Shendure

27

0 references

Brian J O'Roak

Brian J O'Roak

5

0 references

Christian Gilissen

Christian Gilissen

6

0 references

William B. Dobyns

William B Dobyns

33

0 references

Joris A Veltman

Joris A Veltman

29

0 references

Alain Verloes

28

Alain Verloes

0 references

Alexander Hoischen

3

Alexander Hoischen

0 references

Han G. Brunner

30

Conny M A van Ravenswaaij-Arts

Han G Brunner

0 references

21

Conny M A van Ravenswaaij-Arts

0 references

Tony Roscioli

22

Tony Roscioli

0 references

Grazia M S Mancini

19

Grazia M S Mancini

0 references

Bregje W van Bon

2

Bregje W M van Bon

0 references

Karen Gripp

16

Karen W Gripp

0 references

Omar A Abdul-Rahman

10

Omar A Abdul-Rahman

0 references

Bert B A de Vries

26

Bert B A de Vries

0 references

author name string

Jean-Baptiste Rivière

1

0 references

Stanislav S Kholmanskikh

4

0 references

Sabine Gijsen

7

0 references

Christopher T Sullivan

8

0 references

Susan L Christian

9

0 references

Joan F Atkin

11

0 references

Nicolas Chassaing

12

0 references

Valerie Drouin-Garraud

13

0 references

Andrew E Fry

14

0 references

Marlies Kempers

17

0 references

Małgorzata J M Nowaczyk

20

0 references

Michael Marble

23

0 references

Jill A Rosenfeld

24

0 references

Victoria M Siu

25

0 references

M Elizabeth Ross

31

0 references

Daniela T Pilz

describes a project that uses

32

0 references

language of work or name

English

0 references

publication date

26 February 2012

0 references

published in

Nature Genetics

0 references

volume

44

0 references

page(s)

440-4, S1-2

0 references

issue

4

0 references

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3677859/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Variation in genome-wide mutation rates within and between human families

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

A map of human genome variation from population-scale sequencing

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Disregulated RhoGTPases and Actin Cytoskeleton Contribute to the Migration Defect in Lis1-Deficient Neurons

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Actin-latrunculin A structure and function. Differential modulation of actin-binding protein function by latrunculin A

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

The heterogeneity of thymine methyl group origin in DNA pyrimidine isostichs of developing sea urchin embryos

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Calcium-dependent interaction of Lis1 with IQGAP1 and Cdc42 promotes neuronal motility

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Integrative genomics viewer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

A copy number variation morbidity map of developmental delay

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo 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=3677859

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Amino acid difference formula to help explain protein evolution

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Delayed embryonic development and impaired cell growth and survival in Actg1 null mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Rate, molecular spectrum, and consequences of human mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Gamma-actin is required for cytoskeletal maintenance but not development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Filopodia: the fingers that do the walking

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Noonan syndrome and related disorders: genetics and pathogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

The actin cytoskeleton in normal and pathological cell motility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Identification of essential genes in cultured mammalian cells using small interfering RNAs.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Reliable identification of large numbers of candidate SNPs from public EST data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

At least six different actins are expressed in a higher mammal: an analysis based on the amino acid sequence of the amino-terminal tryptic peptide

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Congenital anomalies in children with cerebral palsy: a population-based record linkage study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Congenital malformations of the central nervous system in a 1-year birth cohort followed to the age of 14 years

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Cerebral palsy rates by birth weight, gestation and severity in North of England, 1991-2000 singleton births

2 June 2018

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 January 2018

1 reference

New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes

21 January 2018

1 reference

Restricted beta-galactosidase expression of a hygromycin-lacZ gene targeted to the beta-actin locus and embryonic lethality of beta-actin mutant mice.

21 January 2018

1 reference

An essential role for beta-actin mRNA localization and translation in Ca2+-dependent growth cone guidance.

21 January 2018

1 reference

Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity.

21 January 2018

1 reference

Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

21 January 2018

1 reference

Sorting of actin isoforms in chicken auditory hair cells.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3677859

Identification and characterization of multiple forms of actin

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366783

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased exonic de novo mutation rate in individuals with schizophrenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366783