(Q41920971)

14 October 2017

0 references

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay (English)

1 reference

14 October 2017

Jennifer E Posey

38

0 references

Michael F. Wangler

Michael F Wangler

41

0 references

Mohamad A. Mikati

Mohamad A Mikati

Undiagnosed Diseases Network

18

0 references

34

Undiagnosed Diseases Network

1 reference

14 October 2017

40

James R Lupski

1 reference

14 October 2017

37

Yaping Yang

1 reference

14 October 2017

Nicholas Stong

7

0 references

Stanley F Nelson

30

Stanley F Nelson

1 reference

14 October 2017

16

Zeynep Coban Akdemir

1 reference

14 October 2017

11

Jill A Rosenfeld

1 reference

14 October 2017

10

Fernando Scaglia

1 reference

14 October 2017

25

Sujay Kansagra

1 reference

14 October 2017

Kelly Schoch

1

1 reference

14 October 2017

Linyan Meng

2

1 reference

14 October 2017

Szabolcs Szelinger

3

1 reference

14 October 2017

David R Bearden

4

1 reference

14 October 2017

Asbjorg Stray-Pedersen

5

1 reference

14 October 2017

Oyvind L Busk

6

1 reference

14 October 2017

Eriskay Liston

8

1 reference

14 October 2017

Ronald D Cohn

9

1 reference

14 October 2017

Jennifer Tarpinian

12

1 reference

14 October 2017

Cara M Skraban

13

1 reference

14 October 2017

Matthew A Deardorff

14

1 reference

14 October 2017

Jeremy N Friedman

15

1 reference

14 October 2017

Nicole Walley

17

1 reference

14 October 2017

Peter G Kranz

19

1 reference

14 October 2017

Joan Jasien

20

1 reference

14 October 2017

Allyn McConkie-Rosell

21

1 reference

14 October 2017

Marie McDonald

22

1 reference

14 October 2017

Stephanie Burns Wechsler

23

1 reference

14 October 2017

Michael Freemark

24

1 reference

14 October 2017

Sharon Freedman

26

1 reference

14 October 2017

Deeksha Bali

27

1 reference

14 October 2017

Francisca Millan

28

1 reference

14 October 2017

Sherri Bale

29

1 reference

14 October 2017

Hane Lee

31

1 reference

14 October 2017

Naghmeh Dorrani

32

1 reference

14 October 2017

UCLA Clinical Genomics Center

33

1 reference

14 October 2017

David B Goldstein

35

1 reference

14 October 2017

Rui Xiao

36

1 reference

14 October 2017

Julian A Martinez-Agosto

39

1 reference

14 October 2017

Vandana Shashi

42

1 reference

14 October 2017

language of work or name

English

0 references

publication date

25 January 2017

1 reference

American Journal of Human Genetics

14 October 2017

1 reference

14 October 2017

100

1 reference

14 October 2017

2

1 reference

14 October 2017

343-351

1 reference

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

The Contribution of Mosaic Variants to Autism Spectrum Disorder

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Analysis of protein-coding genetic variation in 60,706 humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

POGZ truncating alleles cause syndromic intellectual disability.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Genome-wide patterns and properties of de novo mutations in humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

The contribution of de novo coding mutations to autism spectrum disorder

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Clinical exome sequencing for genetic identification of rare Mendelian disorders

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Molecular findings among patients referred for clinical whole-exome sequencing

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Genome sequencing identifies major causes of severe intellectual disability

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

A general framework for estimating the relative pathogenicity of human genetic variants

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

NAC1, A POZ/BTB protein interacts with Parkin and may contribute to Parkinson's disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Activating ESR1 mutations in hormone-resistant metastatic breast cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

De novo mutations in epileptic encephalopathies

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Loss of NAC1 expression is associated with defective bony patterning in the murine vertebral axis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Transcriptional regulation and its misregulation in disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Point mutations as a source of de novo genetic disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Nucleus Accumbens 1, a Pox virus and Zinc finger/Bric-a-brac Tramtrack Broad protein binds to TAR DNA-binding protein 43 and has a potential role in Amyotrophic Lateral Sclerosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

De novo mutations in human genetic disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

NAC1 is an actin-binding protein that is essential for effective cytokinesis in cancer cells.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

De Novo Gene Disruptions in Children on the Autistic Spectrum

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Human genome sequencing in health and disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Biological and clinical significance of NAC1 expression in cervical carcinomas: a comparative study between squamous cell carcinomas and adenocarcinomas/adenosquamous carcinomas

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Amplification of the ch19p13.2 NACC1 locus in ovarian high-grade serous carcinoma

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Biological role and prognostic significance of NAC1 in ovarian cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

NAC1, a potential stem cell pluripotency factor expression in normal endometrium, endometrial hyperplasia and endometrial carcinoma.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Expression of a BTB/POZ protein, NAC1, is essential for the proliferation of normal cyclic endometrial glandular cells and is up-regulated by estrogen

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

NAC1, a POZ/BTB protein that functions as a corepressor

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

A BTB/POZ protein, NAC-1, is related to tumor recurrence and is essential for tumor growth and survival

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

The POZ/BTB protein NAC1 interacts with two different histone deacetylases in neuronal-like cultures

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Diagnostic exome sequencing in persons with severe intellectual disability

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294886

Analysis of CpG C‐to‐T mutations in neurofibromatosis type 1

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28132692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28132692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.12.013

1 reference

14 October 2017

1 reference

14 October 2017

1 reference