Alanna Strong
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View article: Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome Open
Craniofrontonasal syndrome (CFNS; MIM #304110) is a rare craniofacial disorder characterized by hypertelorism, a broad nasal root with a bifid nasal tip, orofacial clefting, and genital malformations caused by pathogenic variants in the X-…
View article: Truncating Variants in <scp><i>RREB1</i></scp> Cause a Novel <scp>RASopathy</scp> Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay
Truncating Variants in <span><i>RREB1</i></span> Cause a Novel <span>RASopathy</span> Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay Open
The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been pr…
View article: A New <scp><i>EP300</i></scp>‐Related Syndrome With Prominent Developmental and Immune Phenotypes
A New <span><i>EP300</i></span>‐Related Syndrome With Prominent Developmental and Immune Phenotypes Open
Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability…
View article: P399: Follow the family history: Neonatal diagnosis of YARSopathy and congenital CMV
P399: Follow the family history: Neonatal diagnosis of YARSopathy and congenital CMV Open
View article: P805: Advancing precision care in pregnancy through a treatable fetal findings list
P805: Advancing precision care in pregnancy through a treatable fetal findings list Open
View article: O29: Characterization of liver disease in RASopathies
O29: Characterization of liver disease in RASopathies Open
View article: P860: Prenatally diagnosed Beare-Stevenson cutis gyrata syndrome with a novel variant
P860: Prenatally diagnosed Beare-Stevenson cutis gyrata syndrome with a novel variant Open
View article: P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants
P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants Open
View article: Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants Open
Our study revealed that 8.76% of a large, multiethnic pediatric cohort carried actionable secondary genetic findings, with 5.81% in ACMG genes and 2.95% in non-ACMG genes. These findings emphasize the importance of including diverse popula…
View article: Impact of Executive and Adaptive function on functional outcomes in adults with Maple Syrup Urine Disease
Impact of Executive and Adaptive function on functional outcomes in adults with Maple Syrup Urine Disease Open
Purpose Successful transition to adulthood requires intact executive and adaptive function. These neurocognitive domains, critical for independence, are frequently impaired in inherited metabolic disorders (IMD), though predictive clinical…
View article: Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease gene
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease gene Open
This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis studies to enhance a virtual gene panel used in a diagnostic setting. We re-analyzed histor…
View article: An Adolescent Boy With Hypoxia, Microscopic Hematuria, and Hypertension
An Adolescent Boy With Hypoxia, Microscopic Hematuria, and Hypertension Open
A 13-year-old boy presented with hypoxia, microscopic hematuria, and elevated blood pressures. Persistent microscopic hematuria and hypertension led to investigation of glomerular and non-glomerular causes of hematuria. After reviewing his…
View article: Long-Term Clinical Impact of Pseudodeficiency Alleles in Idua
Long-Term Clinical Impact of Pseudodeficiency Alleles in Idua Open
View article: P966 The intra-patient variability of adalimumab clearance during an intensive sampling study of Crohn’s disease patients receiving maintenance therapy
P966 The intra-patient variability of adalimumab clearance during an intensive sampling study of Crohn’s disease patients receiving maintenance therapy Open
Background Lower adalimumab (ADA) clearance (CL) is associated with improved outcomes in Crohn’s disease (CD) and may be a superior pharmacokinetic (PK) measure than ADA concentrations. We compared intra-patient variability in ADA CL and c…
View article: Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation
Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation Open
View article: Phenotypes of undiagnosed adults with actionable OTC and GLA variants
Phenotypes of undiagnosed adults with actionable OTC and GLA variants Open
Inherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to…
View article: Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”
Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” Open
View article: <i>TOPORS</i> as a novel causal gene for Joubert syndrome
<i>TOPORS</i> as a novel causal gene for Joubert syndrome Open
Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation called the molar tooth sign. JBTS is inherited in an autosomal re…
View article: Perspectives of Rare Disease Experts on Newborn Genome Sequencing
Perspectives of Rare Disease Experts on Newborn Genome Sequencing Open
Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease experts r…
View article: A mutational hotspot in <scp><i>AMOTL1</i></scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
A mutational hotspot in <span><i>AMOTL1</i></span> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature Open
AMOTL1 encodes angiomotin‐like protein 1, an actin‐binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of individuals harboring heterozygous AMOT…
View article: CRISPR gene-editing therapies for hypertrophic cardiomyopathy
CRISPR gene-editing therapies for hypertrophic cardiomyopathy Open
View article: Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort Open
View article: P350: Variants in MED12 are associated with left ventricular non-compaction and arrhythmia
P350: Variants in MED12 are associated with left ventricular non-compaction and arrhythmia Open
View article: P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions*
P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions* Open
View article: <scp><i>TBX6</i></scp> as a cause of a combined skeletal‐kidney dysplasia syndrome
<span><i>TBX6</i></span> as a cause of a combined skeletal‐kidney dysplasia syndrome Open
TBX6 encodes transcription‐factor box 6, a transcription factor critical to paraxial mesoderm segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency is believed to drive the skeletal and kidney phenotypes asso…
View article: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism Open
View article: Lessons Learned From the Long‐Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency
Lessons Learned From the Long‐Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency Open
∗Division of Human Genetics, Children's Hospital of Philadelphia †The Center for Applied Genomics, Children's Hospital of Philadelphia ‡Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, …
View article: The current state of adult metabolic medicine in the United States: Results of a nationwide survey
The current state of adult metabolic medicine in the United States: Results of a nationwide survey Open
View article: eP449: Expansion of the prenatal phenotype of PIEZO1 variants
eP449: Expansion of the prenatal phenotype of PIEZO1 variants Open
View article: Delayed diagnosis and racial bias in children with genetic conditions
Delayed diagnosis and racial bias in children with genetic conditions Open
As more therapeutics for genetic conditions become available, the need for timely and equitable genetic diagnosis has become urgent. Using clinical cases, we consider the health system‐, provider‐, and patient‐level factors that contribute…