Clinical phenotype of the recurrent 1q21.1 copy-number variant (Q39132862)

9 September 2017

Clinical phenotype of the recurrent 1q21.1 copy-number variant (English)

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9 September 2017

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2

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13 June 2020

David H. Ledbetter

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13 June 2020

Wendy Chung

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13 June 2020

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Heather C Mefford

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13 June 2020

author name string

Raphael Bernier

1

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13 June 2020

Beau Reilly

3

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13 June 2020

Arianne Stevens Wallace

4

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13 June 2020

Elliott H Sherr

5

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13 June 2020

Nicholas Pojman

6

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13 June 2020

Jennifer Gerdts

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13 June 2020

Rachel Earl

9

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13 June 2020

Ellen Hanson

10

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13 June 2020

Robin P Goin-Kochel

11

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13 June 2020

Leandra Berry

12

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13 June 2020

Stephen Kanne

13

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13 June 2020

LeeAnne Green Snyder

14

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13 June 2020

Sarah Spence

15

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13 June 2020

Melissa B Ramocki

16

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13 June 2020

David W Evans

17

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13 June 2020

John E Spiro

18

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13 June 2020

Simons VIP consortium

22

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13 June 2020

Christa L Martin

19

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13 June 2020

language of work or name

English

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publication date

11 June 2015

1 reference

9 September 2017

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13 June 2020

volume

18

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13 June 2020

issue

4

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13 June 2020

page(s)

341-349

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https://scigraph.springernature.com/pub.10.1038/gim.2015.78

13 June 2020

exact match

0 references

cites work

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

1 reference

12 December 2020

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

1 reference

12 December 2020

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

12 December 2020

Association testing of copy number variants in schizophrenia and autism spectrum disorders

1 reference

12 December 2020

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

1 reference

12 December 2020

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

1 reference

12 December 2020

The effect of height, weight and head circumference on gross motor development in achondroplasia

1 reference

12 December 2020

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

1 reference

12 December 2020

Brain morphometry with multiecho MPRAGE.

1 reference

12 December 2020

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

1 reference

12 December 2020

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

1 reference

12 December 2020

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

1 reference

12 December 2020

Developmental correlates of head circumference at birth and two years in a cohort of extremely low gestational age newborns

1 reference

12 December 2020

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders

1 reference

12 December 2020

Congenital idiopathic microcephaly in an infant: congruence of head size with developmental motor delay

1 reference

12 December 2020

Head circumference reference data: birth to 18 years.

1 reference

12 December 2020

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

1 reference

12 December 2020

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

12 December 2020

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

1 reference

12 December 2020

1q21.1 Microduplication expression in adults

1 reference

12 December 2020

Standardizing ADOS scores for a measure of severity in autism spectrum disorders

1 reference

12 December 2020

Head size and motor performance in children born prematurely.

1 reference

12 December 2020

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

1 reference

12 December 2020

Genome-wide association study of multiplex schizophrenia pedigrees.

1 reference

12 December 2020

Analysis of copy number variations at 15 schizophrenia-associated loci.

1 reference

12 December 2020

CNVs conferring risk of autism or schizophrenia affect cognition in controls

1 reference

12 December 2020

2-year-old boy who has been diagnosed with autism

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2015.78

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/GIM.2015.78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26066539%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26066539%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference