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European Journal of Human Genetics (10)
Genetics in Medicine (3)
Journal of Human Genetics (2)
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Showing 1–23 of 23 results

Advanced filters: Author: Christian Beetz Clear advanced filters

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Here, the authors describe a noncoding genetic variant in GBA1 specific to people of African ancestry that increases the risk of neurodegenerative diseases by interfering with the splicing of mRNA, resulting in lowered protein levels and activity.

Pilar Álvarez Jerez
Peter Wild Crea
Cornelis Blauwendraat
ResearchOpen Access12 Dec 2024
Nature Structural & Molecular Biology

Volume: 31, P: 1955-1963
Disease entity impacts muscle wasting in the ICU with COVID-19 patients losing muscle nearly twice as fast

Johannes Kolck
Clarissa Hosse
Dominik Geisel
ResearchOpen Access20 Jun 2025
Scientific Reports

Volume: 15, P: 1-9
Neural representation of goal direction in the monarch butterfly brain

Neural coding of goal direction remains unclear in insects. Here, the authors describe goal-direction neurons in the monarch butterfly brain that specifically encode the insect’s desired flight direction during spatial orientation.

M. Jerome Beetz
Christian Kraus
Basil el Jundi
ResearchOpen Access20 Sept 2023
Nature Communications

Volume: 14, P: 1-13
Novel clinical and genetic insight into CXorf56-associated intellectual disability

Maria Eugenia Rocha
Tainá Regina Damaceno Silveira
Aida M. Bertoli-Avella
ResearchOpen Access10 Dec 2019
European Journal of Human Genetics

Volume: 28, P: 367-372
88 TRACE ELEMENT / MINERAL RATIOS IN HUMAN MILK SUPPORT ZN SUPPLEMENTATION OF INFANT FORMULA

Erika Sievers
Hans-D Oldigs
Jürgen Schaub
Research01 Aug 1988
Pediatric Research

Volume: 24, P: 275
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting

Aida M. Bertoli-Avella
Mandy Radefeldt
Peter Bauer
ResearchOpen Access28 Jan 2025
European Journal of Human Genetics

Volume: 33, P: 614-623
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

Anna Uhrová Mészárosová
Martina Putzová
Pavel Seeman
Research23 Jun 2016
Journal of Human Genetics

Volume: 61, P: 845-850
A polymorphic Alu insertion that mediates distinct disease-associated deletions

Amir Jahic
Anne K Erichsen
Christian Beetz
Research02 Mar 2016
European Journal of Human Genetics

Volume: 24, P: 1371-1374
Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

Catherine Breen
Jean Mercer
Christian Beetz
ResearchOpen Access06 Oct 2016
Human Genome Variation

Volume: 3, P: 1-3
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

Miguel Mitne-Neto
Fernando Kok
Mayana Zatz
Research26 Sept 2007
European Journal of Human Genetics

Volume: 15, P: 1276-1279
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

Lara M. Lange
Kristin Levine
Masharip Atadzhanov
ResearchOpen Access25 Mar 2025
npj Parkinson's Disease

Volume: 11, P: 1-10
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Diane D. Shao
Rachel Straussberg
Christopher A. Walsh
ResearchOpen Access02 Feb 2021
Genetics in Medicine

Volume: 23, P: 1158-1162
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

Adila Al-Kindi
Maryam Al-Shehhi
Nana-Maria Grüning
Research26 Nov 2019
Journal of Human Genetics

Volume: 65, P: 193-197
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

Nina A Schlipf
Christian Beetz
Ludger Schöls
Research12 May 2010
European Journal of Human Genetics

Volume: 18, P: 1065-1067
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer
Michael Pusch
Vera M. Kalscheuer
ResearchOpen Access16 Nov 2022
Molecular Psychiatry

Volume: 28, P: 668-697
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal
Reza Maroofian
Gökhan Yigit
ResearchOpen Access09 Jul 2021
Genetics in Medicine

Volume: 23, P: 2138-2149
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Maha S. Zaki
Andrea Accogli
Reza Maroofian
ResearchOpen Access24 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1226-1234
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli-Avella
Krishna K. Kandaswamy
Peter Bauer
ResearchOpen Access19 Apr 2021
Genetics in Medicine

Volume: 23, P: 1551-1568
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Shereen G. Ghosh
Marcello Scala
Joseph G. Gleeson
Research08 Sept 2020
European Journal of Human Genetics

Volume: 29, P: 271-279
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli-Avella
Christian Beetz
Peter Bauer
ResearchOpen Access28 Aug 2020
European Journal of Human Genetics

Volume: 29, P: 141-153
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Huma Cheema
Aida M. Bertoli-Avella
Arndt Rolfs
ResearchOpen Access05 Oct 2020
npj Genomic Medicine

Volume: 5, P: 1-9
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Jacqueline A C Goos
Sigrid M A Swagemakers
Jane A Hurst
ResearchOpen Access26 Jul 2017
European Journal of Human Genetics

Volume: 25, P: 1126-1133
Reply letter to Battke et al.

Aida M. Bertoli-Avella
Christian Beetz
Peter Bauer
CorrespondenceOpen Access17 Feb 2021
European Journal of Human Genetics

Volume: 29, P: 724-725

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African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Disease entity impacts muscle wasting in the ICU with COVID-19 patients losing muscle nearly twice as fast

Neural representation of goal direction in the monarch butterfly brain

Novel clinical and genetic insight into CXorf56-associated intellectual disability

88 TRACE ELEMENT / MINERAL RATIOS IN HUMAN MILK SUPPORT ZN SUPPLEMENTATION OF INFANT FORMULA

Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

A polymorphic Alu insertion that mediates distinct disease-associated deletions

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Reply letter to Battke et al.

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