Karen W. Gripp
Alfred I. duPont Hospital for Children
HRASEndocrinologyCostello syndromeGeneticsBiology
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Publications 124
#1Suzanna G.M. Frints (UM: Maastricht University)H-Index: 17
#2Aysegul Ozanturk (Duke University)H-Index: 2
Last. Vera M. Kalscheuer (MPG: Max Planck Society)H-Index: 8
view all 45 authors...
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies wi...
6 CitationsSource
#1Christiane K. Bauer (UHH: University of Hamburg)H-Index: 22
#2Pauline E. Schneeberger (UHH: University of Hamburg)
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
view all 11 authors...
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KCNK4, encoding K+ channels, have been identified in subjects with ZLS and ZLS-like phenotype, respectively. We report de novo missense variants in KCNN3 in three individuals with typical clinical features of ZLS. KCNN3 (SK3/KCa2.3) constitutes one of ...
#1Amy LaCroix (UW: University of Washington)H-Index: 6
#2Deborah L. Stabley (Alfred I. duPont Hospital for Children)H-Index: 20
Last. Katia Sol-Church (UVA: University of Virginia)H-Index: 1
view all 23 authors...
Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investigation of 10 families (12 individuals) with BSS. Standard sequencing methods identified biallelic pathogenic variants in XYLT1 in only two families. Of the remaining cohort, two probands had no variants and six probands had only a single variant, includ...
9 CitationsSource
Last. Bhy ChungH-Index: 1
view all 37 authors...
#1Zöe PowisH-Index: 10
Last. Sha TangH-Index: 20
view all 29 authors...
Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SETD5 phenotype of ID and dysmorphic features has been previously described in relation to patients with 3p25.3 deletions and in a few individuals with de novo sequence alterations. Herein, we present additional patients with pathogenic SETD5 sequence alterations. The majority of patients in this cohort and previously reported have developmental delay, ...
5 CitationsSource
#1Rajiv K. Khajuria (Charité)H-Index: 4
#2Mathias Munschauer (Broad Institute)H-Index: 12
Last. Vijay G. Sankaran (Broad Institute)H-Index: 33
view all 27 authors...
Summary Blood cell formation is classically thought to occur through a hierarchical differentiation process, although recent studies have shown that lineage commitment may occur earlier in hematopoietic stem and progenitor cells (HSPCs). The relevance to human blood diseases and the underlying regulation of these refined models remain poorly understood. By studying a genetic blood disorder, Diamond-Blackfan anemia (DBA), where the majority of mutations affect ribosomal proteins and the erythroid...
62 CitationsSource
Facial analysis technologies have recently measured up to the capabilities of expert clinicians in syndrome identification. To date, these technologies could only identify phenotypes of a few diseases, limiting their role in clinical settings where hundreds of diagnoses must be considered. We developed a facial analysis framework, DeepGestalt, using computer vision and deep learning algorithms, that quantifies similarities to hundreds of genetic syndromes based on unconstrained 2D images. DeepGe...
9 Citations
#1Magdalena Koczkowska (UAB: University of Alabama at Birmingham)H-Index: 2
#2Yunjia Chen (UAB: University of Alabama at Birmingham)H-Index: 3
Last. Ludwine Messiaen (UAB: University of Alabama at Birmingham)H-Index: 43
view all 75 authors...
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here,...
23 CitationsSource
#1Noriko Miyake (YCU: Yokohama City University)H-Index: 42
#2Nicole I. Wolf (VUmc: VU University Medical Center)H-Index: 39
Last. Adeline Vanderver (UNIL: University of Lausanne)H-Index: 36
view all 29 authors...
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessiv...
8 CitationsSource
#1Bret L. Bostwick (BCM: Baylor College of Medicine)H-Index: 9
#2Scott McLean (BCM: Baylor College of Medicine)H-Index: 1
Last. Seema R. Lalani (BCM: Baylor College of Medicine)H-Index: 35
view all 32 authors...
Background De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder.
10 CitationsSource