(Q28279421)

25

0 references

Emily H Turner

Emily H Turner

13

0 references

Brian J O'Roak

Brian J O'Roak

1

0 references

Elhanan Borenstein

19

Elhanan Borenstein

0 references

Roie Levy

14

Roie Levy

0 references

Deborah A Nickerson

20

Deborah A Nickerson

0 references

Heather C. Mefford

21

Heather C Mefford

0 references

Bradley P. Coe

17

Bradley P Coe

0 references

Choli Lee

9

Choli Lee

0 references

Niklas Krumm

16

Niklas Krumm

0 references

Ian B Stanaway

5

Ian B Stanaway

0 references

Gemma L Carvill

7

Gemma Carvill

0 references

Joseph Hiatt

12

Joseph B Hiatt

0 references

Joshua M. Akey

23

Joshua M Akey

0 references

Beth Martin

18

Beth K Martin

0 references

Katy Ankenman

10

Katy Ankenman

0 references

author name string

Laura Vives

2

0 references

Wenqing Fu

3

0 references

Jarrett D Egertson

4

0 references

Ian G Phelps

6

0 references

Akash Kumar

8

0 references

Jeff Munson

11

0 references

Diana R O'Day

15

0 references

Dan Doherty

22

0 references

Raphael Bernier

on focus list of Wikimedia project

24

0 references

language of work or name

English

0 references

publication date

21 December 2012

0 references

published in

Science

0 references

volume

338

0 references

issue

6114

0 references

page(s)

1619-22

0 references

ScienceSource

0 references

cites work

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20 March 2017

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Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

20 March 2017

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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

20 March 2017

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A Draft Sequence of the Neandertal Genome

20 March 2017

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

20 March 2017

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CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

20 March 2017

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p53 target genes sestrin1 and sestrin2 connect genotoxic stress and mTOR signaling

20 March 2017

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Genetic disorders associated with macrocephaly

20 March 2017

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A comprehensive assay for targeted multiplex amplification of human DNA sequences

20 March 2017

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CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes

20 March 2017

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TBL1-TBLR1 and beta-catenin recruit each other to Wnt target-gene promoter for transcription activation and oncogenesis

20 March 2017

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Analysis of molecular inversion probe performance for allele copy number determination

20 March 2017

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Cullin 5 regulates Dab1 protein levels and neuron positioning during cortical development

20 March 2017

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Multiplex amplification of large sets of human exons

20 March 2017

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Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

20 March 2017

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Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway

20 March 2017

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Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

20 March 2017

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Expression of hepatoma-derived growth factor family members in the adult central nervous system.

20 March 2017

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

20 March 2017

1 reference

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Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

20 March 2017

1 reference

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Mammalian SAD kinases are required for neuronal polarization

20 March 2017

1 reference

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TIP49 regulates beta-catenin-mediated neoplastic transformation and T-cell factor target gene induction via effects on chromatin remodeling

20 March 2017

1 reference

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

20 March 2017

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

6 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

7 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

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=3528801

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=3528801

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Evolution and functional impact of rare coding variation from deep sequencing of 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=3528801

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and 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=3528801

Network-assisted investigation of combined causal signals from genome-wide association studies in schizophrenia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

PTEN signaling in autism spectrum 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=3528801

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=3528801

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of 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=3528801

Down's-syndrome-related kinase Dyrk1A modulates the p120-catenin-Kaiso trajectory of the Wnt signaling pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum 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=3528801

A genomewide linkage scan of cocaine dependence and major depressive episode in two populations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

A member of the ETS family, EHF, and the ATPase RUVBL1 inhibit p53-mediated apoptosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Recessive LAMC3 mutations cause malformations of occipital cortical 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=3528801

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

A population genetic approach to mapping neurological disorder genes using deep resequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

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=3528801

Evidence for association of two variants of the nociceptin/orphanin FQ receptor gene OPRL1 with vulnerability to develop opiate addiction in Caucasians

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

The COP9 signalosome mediates beta-catenin degradation by deneddylation and blocks adenomatous polyposis coli destruction via USP15.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

KRAB-type zinc-finger protein Apak specifically regulates p53-dependent apoptosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Massively parallel exon capture and library-free resequencing across 16 genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Power of deep, all-exon resequencing for discovery of human trait genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

A catalog of SCN1A variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Histone methyltransferase protein SETD2 interacts with p53 and selectively regulates its downstream genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental 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=3528801

Adenylyl cyclase type 5 (AC5) is an essential mediator of morphine action

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett 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=3528801

Mutations in NR4A2 associated with familial Parkinson 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=3528801

Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in 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=3528801

Mutation analysis of the human NR4A2 gene, an essential gene for midbrain dopaminergic neurogenesis, in schizophrenic patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

PTEN mutation in a family with Cowden syndrome and autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Tbr1 regulates differentiation of the preplate and layer 6.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Improved thermodynamic parameters and helix initiation factor to predict stability of DNA duplexes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Head circumference reference data: birth to 18 years.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

DYRK1A: a master regulatory protein controlling brain growth.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Reversible SUMOylation of TBL1-TBLR1 regulates β-catenin-mediated Wnt signaling.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Blockage of VIP during mouse embryogenesis modifies adult behavior and results in permanent changes in brain chemistry.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528801

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

2 June 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

DOG 1.0: illustrator of protein domain structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

Variation in the ratio of nucleotide substitution and indel rates across genomes in mammals and bacteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

Pten deletion in adult hippocampal neural stem/progenitor cells causes cellular abnormalities and alters neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

Activity-dependent neuroprotective protein: a novel gene essential for brain formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1227764

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23160955

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23160955