Nature Search

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Variants in the PSMC5 gene impair proteasome function and cellular homeostasis, altering brain development in children. This study reveals underlying molecular mechanisms contributing to this neurodevelopmental phenotype, and suggests therapeutic leads for neurodevelopmental proteasomopathies.

Sébastien Küry
Janelle E. Stanton
Elke Krüger
ResearchOpen Access26 Nov 2025
Nature Communications

Volume: 16, P: 1-21
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Peter Robinson and colleagues performed exome sequencing on three siblings to identify mutations in PIGV in Hyperphosphatasia-Mental Retardation (HPMR) syndrome.

Peter M Krawitz
Michal R Schweiger
Peter N Robinson
Research29 Aug 2010
Nature Genetics

Volume: 42, P: 827-829
Population-specific calibration and validation of an open-source bone age AI

Sebastian Rassmann
Luka Abashishvili
Behnam Javanmardi
ResearchOpen Access23 Sept 2025
Scientific Reports

Volume: 15, P: 1-8
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Exome sequencing within a structured diagnostic process for rare diseases in Germany shows how facial image analysis and machine learning can guide variant prioritization and uncover many ultrarare diseases.

Axel Schmidt
Magdalena Danyel
Matias Wagner
ResearchOpen Access22 Jul 2024
Nature Genetics

Volume: 56, P: 1644-1653
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt
Magdalena Danyel
Matias Wagner
Amendments and CorrectionsOpen Access24 Jun 2025
Nature Genetics

Volume: 57, P: 1790-1791
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

Eye2Gene’s next-generation phenotyping of multimodal images increases diagnostic yield for inherited retinal diseases by improving screening, phenotype-driven variant prioritization and automatic similarity matching in phenotypic space to drive gene discovery.

Nikolas Pontikos
William A. Woof
Michel Michaelides
ResearchOpen Access18 Jun 2025
Nature Machine Intelligence

Volume: 7, P: 967-978
Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

Here, the authors perform an association study on 72,469 exomes to identify significant associations between male-pattern hair loss and rare genetic variants in EDA2R, WNT10A, HEPH, CEPT1, and EIF3F, finding an enrichment of implicated genes in monogenic trichosis genes.

Sabrina Katrin Henne
Rana Aldisi
Stefanie Heilmann-Heimbach
ResearchOpen Access22 Sept 2023
Nature Communications

Volume: 14, P: 1-13
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

Christoph Klein and colleagues identify loss-of-function mutations in SMARCD2 (BAF60b) that lead to neutropenia, specific granule deficiency and myelodysplasia. They show that SMARCD2 controls differentiation of myeloid–erythroid progenitor cells through interaction with CEBPɛ and that reduced SMARCD2 levels cause transcription and chromatin alterations in acute myeloid leukemia cells.

Maximilian Witzel
Daniel Petersheim
Christoph Klein
Research03 Apr 2017
Nature Genetics

Volume: 49, P: 742-752
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Mateusz Kolanczyk
Peter Krawitz
Denise Horn
Research11 Jun 2014
European Journal of Human Genetics

Volume: 23, P: 633-638
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

Manuel Holtgrewe
Alexej Knaus
Peter Michael Krawitz
ResearchOpen Access02 Oct 2018
Scientific Reports

Volume: 8, P: 1-5
The GA4GH Phenopacket schema defines a computable representation of clinical data

Julius O. B. Jacobsen
Michael Baudis
Peter N. Robinson
Correspondence15 Jun 2022
Nature Biotechnology

Volume: 40, P: 817-820
Predicting opioid consumption after surgical discharge: a multinational derivation and validation study using a foundation model

Chris Varghese
Luke Peters
Caroline Reinke
ResearchOpen Access26 Aug 2025
npj Digital Medicine

Volume: 8, P: 1-16
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans

Fabian Brand
Hannah Klinkhammer
Peter Krawitz
ResearchOpen Access23 Jun 2025
Scientific Reports

Volume: 15, P: 1-14
Identifying facial phenotypes of genetic disorders using deep learning

A deep-learning algorithm, trained on over 17,000 real-world patient facial images, achieves high accuracy in identifying rare genetic disorders.

Yaron Gurovich
Yair Hanani
Karen W. Gripp
Research07 Jan 2019
Nature Medicine

Volume: 25, P: 60-64
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

GestaltMatcher uses a deep convolutional neural network to improve recognition of rare disorders based on facial morphology. The framework detects similarities among patients with previously unseen syndromes, aiding discovery of new disease genes.

Tzung-Chien Hsieh
Aviram Bar-Haim
Peter M. Krawitz
Research10 Feb 2022
Nature Genetics

Volume: 54, P: 349-357
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Denise Emmerich
Tomasz Zemojtel
Mateusz Kolanczyk
Research08 Oct 2014
European Journal of Human Genetics

Volume: 23, P: 870-873
Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background

Emadeldin Hassanin
Zied Landoulsi
Dheeraj Reddy Bobbili
ResearchOpen Access12 Jun 2025
npj Parkinson's Disease

Volume: 11, P: 1-8
PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Friedrich Luft and colleagues identify missense mutations in PDE3A in six unrelated families with an autosomal dominant syndrome marked by severe hypertension and brachydactyly. They further show that the mutations result in gain of enzymatic function, leading to increased vascular smooth muscle cell proliferation and vessel wall hyperplasia.

Philipp G Maass
Atakan Aydin
Sylvia Bähring
Research11 May 2015
Nature Genetics

Volume: 47, P: 647-653
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Roberta Roncarati
Chiara Viviani Anselmi
Peter N Robinson
Research06 Mar 2013
European Journal of Human Genetics

Volume: 21, P: 1105-1111
Epigenomic and phenotypic characterization of DEGCAGS syndrome

Karim Karimi
Denisa Weis
Sofia Douzgou Houge
Research19 Oct 2024
European Journal of Human Genetics

Volume: 32, P: 1574-1582
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Axel Schmidt
Sophia Peters
Soyhan Bagci
ResearchOpen Access01 Jul 2021
npj Genomic Medicine

Volume: 6, P: 1-5
Episignature analysis of moderate effects and mosaics

Konrad Oexle
Michael Zech
Nazanin Mirza-Schreiber
ResearchOpen Access26 Jun 2023
European Journal of Human Genetics

Volume: 31, P: 1032-1039
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

Lily Guo
Jiyeon Park
Gholson J. Lyon
ResearchOpen Access15 Aug 2022
European Journal of Human Genetics

Volume: 30, P: 1244-1254
PEDIA: prioritization of exome data by image analysis

Tzung-Chien Hsieh
Martin A. Mensah
Peter M. Krawitz
ResearchOpen Access05 Jun 2019
Genetics in Medicine

Volume: 21, P: 2807-2814
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Henry Oppermann
Elia Marcos-Grañeda
Konrad Platzer
ResearchOpen Access30 Aug 2023
European Journal of Human Genetics

Volume: 31, P: 1251-1260
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Mio Aerden
Anne-Sophie Denommé-Pichon
Hilde Van Esch
Research07 Feb 2023
European Journal of Human Genetics

Volume: 31, P: 461-468
Combining callers improves the detection of copy number variants from whole-genome sequencing

Marie Coutelier
Manuel Holtgrewe
Stefan Mundlos
ResearchOpen Access08 Nov 2021
European Journal of Human Genetics

Volume: 30, P: 178-186
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Allan Bayat
Alexej Knaus
Rikke S. Møller
Research12 Apr 2019
Genetics in Medicine

Volume: 21, P: 2216-2223

Search

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Population-specific calibration and validation of an open-source bone age AI

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

The GA4GH Phenopacket schema defines a computable representation of clinical data

Predicting opioid consumption after surgical discharge: a multinational derivation and validation study using a foundation model

Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans

Identifying facial phenotypes of genetic disorders using deep learning

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Epigenomic and phenotypic characterization of DEGCAGS syndrome

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Episignature analysis of moderate effects and mosaics

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

PEDIA: prioritization of exome data by image analysis

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Combining callers improves the detection of copy number variants from whole-genome sequencing

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

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