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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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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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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Niggl, Eva ; Bouman, Arjan ; Briere, Lauren C. ; [et al.]

Elsevier BV ; 2023

In: The American Journal of Human Genetics Vol. 110, No. 8 ( 2023-08), p. 1414-1435

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 110, No. 8 ( 2023-08), p. 1414-1435

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2023.07.005

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 1473813-2

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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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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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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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. 3 ( 2019-09), p. 672-674

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 105, No. 3 ( 2019-09), p. 672-674

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2019.07.017

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1473813-2

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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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

SSG: 12

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