Erica H. Gerkes
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View article: Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Open
View article: Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder Open
The post-transcriptional modification of tRNAs plays a crucial role in tRNA structure and function. Pathogenic variants in tRNA-modification enzymes have been implicated in a wide range of human neurodevelopmental and neurological disorder…
View article: RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures Open
View article: Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes Open
View article: Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles Open
View article: Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene Open
View article: Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutations
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutations Open
Background Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing GDACCF syndrome (global developmental delay, absent or hyp…
View article: Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer Open
This file contains all mutations identified in all patients.
View article: Data from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Data from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer Open
Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a sele…
View article: Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer Open
This file contains all mutations identified in all patients.
View article: Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer Open
Supplementary Table S1 - Cancer gene panel Supplementary Table S2 - Patients with multiple malignancies Supplementary Table S3 - Tumor types of index patients Supplementary Table S4 - Candidate genes Supplementary Table S5 - Overview of cl…
View article: Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer Open
Supplementary Table S1 - Cancer gene panel Supplementary Table S2 - Patients with multiple malignancies Supplementary Table S3 - Tumor types of index patients Supplementary Table S4 - Candidate genes Supplementary Table S5 - Overview of cl…
View article: Data from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Data from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer Open
Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a sele…
View article: CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Open
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid …
View article: Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort Open
View article: Amniotic band syndrome and limb body wall complex in Europe 1980–2019
Amniotic band syndrome and limb body wall complex in Europe 1980–2019 Open
Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 a…
View article: The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 Open
View article: SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma
SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma Open
View article: Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort Open
View article: Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Open
View article: Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases Open
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a "Question Mark Ear" (QME). Several additional features, o…
View article: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON Open
View article: A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria Open
ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic accordi…
View article: Genome sequencing in families with congenital limb malformations
Genome sequencing in families with congenital limb malformations Open
View article: Germline AGO2 mutations impair RNA interference and human neurological development
Germline AGO2 mutations impair RNA interference and human neurological development Open
View article: Primrose syndrome: Characterization of the phenotype in 42 patients
Primrose syndrome: Characterization of the phenotype in 42 patients Open
Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down‐slanting palpebral fissures), calcified external ears, sparse body hair and…
View article: De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability Open
View article: <i>ZMYND11</i> ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
<i>ZMYND11</i> ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum Open
Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavioral abnormalities, and seizures. Only 11 affected individuals have been reported to date, and the phenotyp…
View article: A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families Open
HARS2 encodes mitochondrial histidyl-tRNA synthetase (HARS2), which links histidine to its cognate tRNA in the mitochondrial matrix. Biallelic variants in HARS2 are associated with Perrault syndrome, a rare recessive condition characterize…
View article: Variants in nuclear factor I genes influence growth and development
Variants in nuclear factor I genes influence growth and development Open
The nuclear factor one (NFI) site‐specific DNA‐binding proteins represent a family of transcription factors that are important for the development of multiple organ systems, including the brain. During brain development in mice, the expres…