GLORIA — GEOMAR Library Ocean Research Information Access

1

Online Resource

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

Shashi, Vandana ; Pena, Loren D.M. ; Kim, Katherine ; [et al.]

Elsevier BV ; 2016

In: The American Journal of Human Genetics Vol. 99, No. 4 ( 2016-10), p. 991-999

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 99, No. 4 ( 2016-10), p. 991-999

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2016.08.017

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2016

detail.hit.zdb_id: 1473813-2

SSG: 12

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2

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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Ramoni, Rachel B. ; Mulvihill, John J. ; Adams, David R. ; [et al.]

Elsevier BV ; 2017

In: The American Journal of Human Genetics Vol. 100, No. 2 ( 2017-02), p. 185-192

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 100, No. 2 ( 2017-02), p. 185-192

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2017.01.006

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 1473813-2

SSG: 12

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3

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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Chao, Hsiao-Tuan ; Davids, Mariska ; Burke, Elizabeth ; [et al.]

Elsevier BV ; 2017

In: The American Journal of Human Genetics Vol. 100, No. 1 ( 2017-01), p. 128-137

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 100, No. 1 ( 2017-01), p. 128-137

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2016.11.018

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 1473813-2

SSG: 12

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4

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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Wang, Julia ; Al-Ouran, Rami ; Hu, Yanhui ; [et al.]

Elsevier BV ; 2017

In: The American Journal of Human Genetics Vol. 100, No. 6 ( 2017-06), p. 843-853

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 100, No. 6 ( 2017-06), p. 843-853

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2017.04.010

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 1473813-2

SSG: 12

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5

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Pena, Loren D.M. ; Jiang, Yong-Hui ; Schoch, Kelly ; [et al.]

Elsevier BV ; 2018

In: Genetics in Medicine Vol. 20, No. 4 ( 2018-04), p. 464-469

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In: Genetics in Medicine, Elsevier BV, Vol. 20, No. 4 ( 2018-04), p. 464-469

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/gim.2017.128

Language: English

Publisher: Elsevier BV

Publication Date: 2018

detail.hit.zdb_id: 2063504-7

SSG: 12

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6

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

Schoch, Kelly ; Meng, Linyan ; Szelinger, Szabolcs ; [et al.]

Elsevier BV ; 2017

In: The American Journal of Human Genetics Vol. 100, No. 2 ( 2017-02), p. 343-351

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 100, No. 2 ( 2017-02), p. 343-351

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2016.12.013

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 1473813-2

SSG: 12

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7

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Nicoli, Elena-Raluca ; Weston, Mary R. ; Hackbarth, Mary ; [et al.]

Elsevier BV ; 2019

In: The American Journal of Human Genetics Vol. 104, No. 6 ( 2019-06), p. 1127-1138

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 104, No. 6 ( 2019-06), p. 1127-1138

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2019.04.008

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1473813-2

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8

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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Kanca, Oguz ; Andrews, Jonathan C. ; Lee, Pei-Tseng ; [et al.]

Elsevier BV ; 2019

In: The American Journal of Human Genetics Vol. 105, No. 2 ( 2019-08), p. 413-424

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 105, No. 2 ( 2019-08), p. 413-424

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2019.06.014

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1473813-2

SSG: 12

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9

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IRF2BPL Is Associated with Neurological Phenotypes

Marcogliese, Paul C. ; Shashi, Vandana ; Spillmann, Rebecca C. ; [et al.]

Elsevier BV ; 2018

In: The American Journal of Human Genetics Vol. 103, No. 3 ( 2018-09), p. 456-

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 103, No. 3 ( 2018-09), p. 456-

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2018.08.010

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2018

detail.hit.zdb_id: 1473813-2

SSG: 12

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10

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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Machol, Keren ; Rousseau, Justine ; Ehresmann, Sophie ; [et al.]

Elsevier BV ; 2019

In: The American Journal of Human Genetics Vol. 104, No. 1 ( 2019-01), p. 164-178

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 104, No. 1 ( 2019-01), p. 164-178

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2018.11.007

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1473813-2

SSG: 12

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