Daniel Groepper
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View article: P295: Detection of copy number variants by chromosome microarray vs exome sequencing at a single clinic over an eight year period
P295: Detection of copy number variants by chromosome microarray vs exome sequencing at a single clinic over an eight year period Open
View article: An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes
An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes Open
View article: P281: Atypical maternally inherited CDKN1C variant causing IMAGe syndrome in a newborn
P281: Atypical maternally inherited CDKN1C variant causing IMAGe syndrome in a newborn Open
The CDKN1C gene has recognizable phenotypic heterogeneity with reported genotype-phenotype correlations. Missense, nonsense, and frameshift variants in the 3' proliferating cell nuclear antigen (PCNA) binding domain are the recognized caus…
View article: P239: Mosaic trisomy 17 and tetraploidy: A case report
P239: Mosaic trisomy 17 and tetraploidy: A case report Open
Mosaic trisomy 17 and mosaic tetraploidy are rare with few cases in literature. Mosaic trisomy 17 has been reported with varying clinical features including congenital heart diseases, structural brain anomalies, postaxial polydactyly, FGR,…
View article: P110: Case report of APC promoter 1B deletion associated with classic FAP
P110: Case report of APC promoter 1B deletion associated with classic FAP Open
The Adenomatous Polyposis Coli (APC) gene is associated with Familial Adenomatous Polyposis (FAP), an autosomal dominantly hereditary cancer syndrome with classic and attenuated forms. Deletions of the promoter 1B region of the APC gene ar…
View article: P342: Broadening the phenotype of ABL1-associated disorder
P342: Broadening the phenotype of ABL1-associated disorder Open
View article: Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome Open
Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by multiple enchondromas, commonly causing bone deformities, limb length discrepancies, and pathological fractures. MS is distinguished from OD by the developm…
View article: eP407: Aberrant KCNQ1 splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance
eP407: Aberrant KCNQ1 splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance Open
View article: <i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity
<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity Open
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported …
View article: Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders Open
View article: TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development Open
Thousand and one amino-acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen-activated protein kinase pathways, thereby modulating a multitude of processes in the cell. Given the recent finding of TAOK1 involvement …
View article: Additional file 2 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Additional file 2 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders Open
Additional file 2: Table S1. Summary on clinical features of individuals bearing pathogenic DHX30 variants.
View article: Genotype–phenotype correlations and novel molecular insights into the <i>DHX30</i>-associated neurodevelopmental disorders
Genotype–phenotype correlations and novel molecular insights into the <i>DHX30</i>-associated neurodevelopmental disorders Open
Background We aimed to define the clinical and mutational spectrum, and to provide novel molecular insights into DHX30 -associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected thro…
View article: Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants Open
Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identifi…