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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Morleo, Manuela ; Venditti, Rossella ; Theodorou, Evangelos ; [et al.]

Elsevier BV ; 2023

In: The American Journal of Human Genetics Vol. 110, No. 8 ( 2023-08), p. 1377-1393

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 110, No. 8 ( 2023-08), p. 1377-1393

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2023.06.012

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 1473813-2

SSG: 12

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Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

Halley, Meghan C. ; Young, Jennifer L. ; Tang, Charis ; [et al.]

Elsevier BV ; 2023

In: The Journal of Pediatrics Vol. 261 ( 2023-10), p. 113537-

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In: The Journal of Pediatrics, Elsevier BV, Vol. 261 ( 2023-10), p. 113537-

Type of Medium: Online Resource

ISSN: 0022-3476

URL: Article

DOI: 10.1016/j.jpeds.2023.113537

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2005245-5

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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Spillmann, Rebecca C. ; Tan, Queenie K.-G. ; Reuter, Chloe ; [et al.]

Elsevier BV ; 2023

In: Genetics in Medicine Vol. 25, No. 4 ( 2023-04), p. 100353-

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In: Genetics in Medicine, Elsevier BV, Vol. 25, No. 4 ( 2023-04), p. 100353-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2022.12.001

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2063504-7

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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Kohler, Jennefer N. ; Legro, Nicole R. ; Baldridge, Dustin ; [et al.]

Elsevier BV ; 2024

In: Genetics in Medicine ( 2024-5), p. 101166-

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In: Genetics in Medicine, Elsevier BV, ( 2024-5), p. 101166-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2024.101166

Language: English

Publisher: Elsevier BV

Publication Date: 2024

detail.hit.zdb_id: 2063504-7

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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Andrews, Jonathan C. ; Mok, Jung-Wan ; Kanca, Oguz ; [et al.]

Elsevier BV ; 2023

In: Genetics in Medicine Vol. 25, No. 6 ( 2023-06), p. 100833-

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In: Genetics in Medicine, Elsevier BV, Vol. 25, No. 6 ( 2023-06), p. 100833-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2023.100833

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2063504-7

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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Shashi, Vandana ; Schoch, Kelly ; Ganetzky, Rebecca ; [et al.]

Elsevier BV ; 2023

In: Genetics in Medicine Vol. 25, No. 9 ( 2023-09), p. 100897-

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In: Genetics in Medicine, Elsevier BV, Vol. 25, No. 9 ( 2023-09), p. 100897-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2023.100897

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2063504-7

SSG: 12

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello ; [et al.]

Elsevier BV ; 2023

In: The American Journal of Human Genetics Vol. 110, No. 5 ( 2023-05), p. 774-789

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 110, No. 5 ( 2023-05), p. 774-789

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2023.03.012

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 1473813-2

SSG: 12

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Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise ; [et al.]

Elsevier BV ; 2022

In: Genetics in Medicine Vol. 24, No. 7 ( 2022-07), p. 1567-1582

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In: Genetics in Medicine, Elsevier BV, Vol. 24, No. 7 ( 2022-07), p. 1567-1582

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2022.03.014

Language: English

Publisher: Elsevier BV

Publication Date: 2022

detail.hit.zdb_id: 2063504-7

SSG: 12

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