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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, Shilpa Nadimpalli ; Baldridge, Dustin ; Velinder, Matt ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 6 ( 2021-06), p. 1075-1085

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 6 ( 2021-06), p. 1075-1085

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-020-01084-8

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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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

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Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Bhatia, Aashim ; Mobley, Bret C. ; Cogan, Joy ; [et al.]

Elsevier BV ; 2019

In: Clinical Imaging Vol. 58 ( 2019-11), p. 108-113

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In: Clinical Imaging, Elsevier BV, Vol. 58 ( 2019-11), p. 108-113

Type of Medium: Online Resource

ISSN: 0899-7071

URL: Article

DOI: 10.1016/j.clinimag.2019.06.010

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 2004578-5

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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

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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

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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

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Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 1499907-9

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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

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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

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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Accogli, Andrea ; Calabretta, Sara ; St-Onge, Judith ; [et al.]

Elsevier BV ; 2019

In: The American Journal of Human Genetics Vol. 105, No. 4 ( 2019-10), p. 854-868

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 105, No. 4 ( 2019-10), p. 854-868

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2019.09.005

RVK:

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Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1473813-2

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De novo variants in DENND5B cause a neurodevelopmental disorder

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo ; [et al.]

Elsevier BV ; 2024

In: The American Journal of Human Genetics ( 2024-2)

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In: The American Journal of Human Genetics, Elsevier BV, ( 2024-2)

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2024.02.001

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2024

detail.hit.zdb_id: 1473813-2

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