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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Schoch, Kelly ; Esteves, Cecilia ; Bican, Anna ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 2 ( 2021-02), p. 259-271

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 2 ( 2021-02), p. 259-271

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-020-00984-z

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Mao, Dongxue ; Reuter, Chloe M. ; Ruzhnikov, Maura R.Z. ; [et al.]

Elsevier BV ; 2020

In: The American Journal of Human Genetics Vol. 106, No. 4 ( 2020-04), p. 570-583

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 106, No. 4 ( 2020-04), p. 570-583

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2020.02.016

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 1473813-2

SSG: 12

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Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty ; [et al.]

Elsevier BV ; 2023

In: Genetics in Medicine ( 2023-11), p. 101023-

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In: Genetics in Medicine, Elsevier BV, ( 2023-11), p. 101023-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2023.101023

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2063504-7

SSG: 12

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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Ravenscroft, Thomas A. ; Phillips, Jennifer B. ; Fieg, Elizabeth ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 10 ( 2021-10), p. 1889-1900

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 10 ( 2021-10), p. 1889-1900

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-021-01216-8

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Johnson, Brett V. ; Kumar, Raman ; Oishi, Sabrina ; [et al.]

Elsevier BV ; 2020

In: Biological Psychiatry Vol. 87, No. 2 ( 2020-01), p. 100-112

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In: Biological Psychiatry, Elsevier BV, Vol. 87, No. 2 ( 2020-01), p. 100-112

Type of Medium: Online Resource

ISSN: 0006-3223

URL: Article

DOI: 10.1016/j.biopsych.2019.05.028

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 1499907-9

SSG: 12

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T. ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 10 ( 2021-10), p. 1922-1932

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 10 ( 2021-10), p. 1922-1932

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-021-01232-8

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T. ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 10 ( 2021-10), p. 2016-

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 10 ( 2021-10), p. 2016-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-021-01306-7

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 12 ( 2021-12), p. 2467-

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 12 ( 2021-12), p. 2467-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-021-01189-8

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 4 ( 2021-04), p. 740-750

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 4 ( 2021-04), p. 740-750

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-020-01027-3

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Marbach, Felix ; Stoyanov, Georgi ; Erger, Florian ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 8 ( 2021-08), p. 1465-1473

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 8 ( 2021-08), p. 1465-1473

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-021-01152-7

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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