(Q36775218)

16 August 2017

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease (English)

1 reference

16 August 2017

Claudia Gonzaga-Jauregui

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Serkan Erdin

8

1 reference

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6 June 2020

Tomasz Gambin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Ian M. Campbell

10

1 reference

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6 June 2020

Ozlem Türkeli Sezer

27

1 reference

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6 June 2020

Vehap Topcu

32

1 reference

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6 June 2020

Vehap Topcu

33

1 reference

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6 June 2020

Mustafa Ozen

59

1 reference

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6 June 2020

65

James R Lupski

1 reference

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6 June 2020

64

Richard A Gibbs

1 reference

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6 June 2020

60

Donna M Muzny

1 reference

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6 June 2020

62

Eric Boerwinkle

1 reference

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6 June 2020

44

Asuman Koparir

1 reference

6 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

13

Hilde Van Esch

1 reference

6 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

12

Mehmed M Atik

1 reference

6 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

25

Preti Jain

1 reference

6 June 2020

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22

Tulay Tos

1 reference

6 June 2020

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6

Zeynep Coban Akdemir

1 reference

6 June 2020

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56

Tahsin Yakut

1 reference

6 June 2020

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37

Elif Yilmaz Gulec

1 reference

6 June 2020

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2

Tamar Harel

1 reference

6 June 2020

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26

B Bilge Geckinli

1 reference

6 June 2020

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47

Elif Fenercioglu

1 reference

6 June 2020

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38

Alper Gezdirici

1 reference

6 June 2020

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3

Davut Pehlivan

1 reference

6 June 2020

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17

Gozde Yesil

1 reference

6 June 2020

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39

Erkan Koparir

1 reference

6 June 2020

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53

Dilek Aktas

1 reference

6 June 2020

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18

Ozge O Yuregir

1 reference

6 June 2020

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1

Ender Karaca

1 reference

6 June 2020

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48

Hakan Ulucan

1 reference

6 June 2020

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Shalini N Jhangiani

4

1 reference

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6 June 2020

Yavuz Bayram

9

1 reference

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6 June 2020

Jill V Hunter

11

1 reference

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6 June 2020

Bo Yuan

14

1 reference

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6 June 2020

Wojciech Wiszniewski

15

1 reference

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6 June 2020

Sedat Isikay

16

1 reference

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6 June 2020

Sevcan Tug Bozdogan

19

1 reference

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6 June 2020

Huseyin Aslan

20

1 reference

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6 June 2020

Hatip Aydin

21

1 reference

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6 June 2020

Ayse Aksoy

23

1 reference

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6 June 2020

Darryl C De Vivo

24

1 reference

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6 June 2020

Davut Gul

28

1 reference

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6 June 2020

Burak Durmaz

29

1 reference

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6 June 2020

Ozgur Cogulu

30

1 reference

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6 June 2020

Ferda Ozkinay

31

1 reference

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6 June 2020

Sukru Candan

34

1 reference

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6 June 2020

Alper Han Cebi

35

1 reference

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6 June 2020

Mevlit Ikbal

36

1 reference

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6 June 2020

Fatma Ekici

40

1 reference

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6 June 2020

Salih Coskun

41

1 reference

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6 June 2020

Salih Cicek

42

1 reference

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6 June 2020

Kadri Karaer

43

1 reference

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6 June 2020

Mehmet Bugrahan Duz

45

1 reference

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6 June 2020

Emre Kirat

46

1 reference

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6 June 2020

Mehmet Seven

49

1 reference

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6 June 2020

Tulay Guran

50

1 reference

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6 June 2020

Nursel Elcioglu

51

1 reference

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6 June 2020

Mahmut Selman Yildirim

52

1 reference

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6 June 2020

Mehmet Alikaşifoğlu

54

1 reference

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6 June 2020

Mehmet Ture

55

1 reference

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6 June 2020

John D Overton

57

1 reference

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6 June 2020

Adnan Yuksel

58

1 reference

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6 June 2020

David R Adams

61

1 reference

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6 June 2020

Wendy K Chung

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

language of work or name

English

0 references

publication date

1 November 2015

1 reference

16 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

88

1 reference

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6 June 2020

issue

3

1 reference

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6 June 2020

page(s)

499-513

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

6 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability 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=4824012

Molecular findings among patients referred for clinical whole-exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Malformations of cortical development: clinical features and genetic causes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Genome sequencing identifies major causes of severe intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Introduction: Brain malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The human TUT1 nucleotidyl transferase as a global regulator of microRNA abundance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down 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=4824012

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz 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=4824012

Brain dopamine-serotonin vesicular transport disease and its treatment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability 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=4824012

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

RNA helicases in infection and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Copy number variation detection and genotyping from exome sequence 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=4824012

Sporadic autism exomes reveal a highly interconnected protein network of de novo 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=4824012

A developmental and genetic classification for malformations of cortical development: update 2012

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

An integrative variant analysis suite for whole exome next-generation sequencing 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=4824012

Clan genomics and the complex architecture of human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Ubiquilin-1 is a molecular chaperone for the amyloid precursor protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Tumor suppressor RARRES1 interacts with cytoplasmic carboxypeptidase AGBL2 to regulate the α-tubulin tyrosination cycle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing 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=4824012

The Sequence Alignment/Map format and SAMtools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The long unwinding road of RNA helicases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

RNA helicases--one fold for many functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation 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=4824012

Identification, cloning, and functional analysis of the human U6 snRNA-specific terminal uridylyl transferase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Glycogen synthase kinase 3 and h-prune regulate cell migration by modulating focal adhesions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Family-based association between Alzheimer's disease and variants in UBQLN1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Circular binary segmentation for the analysis of array-based DNA copy number 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=4824012

Identification of a polymorphic, neuron-specific chromatin remodeling complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Three-dimensional structure of the complexin/SNARE complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Unwinding RNA in Saccharomyces cerevisiae: DEAD-box proteins and related families.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

A novel family of predicted phosphoesterases includes Drosophila prune protein and bacterial RecJ exonuclease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Complexins: cytosolic proteins that regulate SNAP receptor function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Mutation in TTI2 reveals a role for triple T complex in human brain 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=4824012

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Altered expression of vesicular monoamine transporter 2 in epileptic patients and experimental rats.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Diagnostic exome sequencing in persons with severe intellectual disability

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Human metastasis regulator protein H-prune is a short-chain exopolyphosphatase

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Genetic factors in Alzheimer's disease.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Cell cycle regulation of central spindle assembly.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Prune cAMP phosphodiesterase binds nm23-H1 and promotes cancer metastasis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Active disruption of an RNA-protein interaction by a DExH/D RNA helicase

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The AKT genes and their roles in various disorders

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26539891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exclusive expression of VMAT2 in noradrenergic neurons increases viability of homozygous VMAT2 knockout mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26539891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEURON.2015.09.048

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json