Anne Hing
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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients Open
Background The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult to discern. Understanding these mechanisms is critical for developing treatments that a…
Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis Open
Objective To develop consensus-based algorithms for genetic testing in patients with common craniofacial conditions. Design An online collaborative consisting of online meetings, independent work, and feedback across groups. Setting/Partic…
View article: Dominant‐negative variant in <i>SLC1A4</i> causes an autosomal dominant epilepsy syndrome
Dominant‐negative variant in <i>SLC1A4</i> causes an autosomal dominant epilepsy syndrome Open
SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L‐serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive m…
View article: Participation in a national diagnostic research study: assessing the patient experience
Participation in a national diagnostic research study: assessing the patient experience Open
Introduction The Undiagnosed Diseases Network (UDN), a clinical research study funded by the National Institutes of Health, aims to provide answers for patients with undiagnosed conditions and generate knowledge about underlying disease me…
View article: Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice Open
Pathogenic variants in KMT5B , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM # 617788). Given the relatively recent discovery of this disorder, it has not b…
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…
Damaging variants in FOXI3 cause microtia and craniofacial microsomia Open
Damaging variants in FOXI3 are the second most frequent genetic cause of CFM, causing 1% of all cases, including 13% of familial cases in our cohort.
Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants Open
BACKGROUND Despite widespread availability of clinical genetic testing, many individuals with suspected genetic conditions do not have a precise diagnosis. This limits their opportunity to take advantage of state-of-the-art treatments. In …
Evaluation of ICD-9-CM codes for craniofacial microsomia Open
Craniofacial microsomia (CFM) is a congenital condition characterized by microtia and mandibular underdevelopment. Healthcare databases and birth defects surveillance programs could be used to improve knowledge of CFM. However, no specific…
Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism Open
Childhood overgrowth syndromes are relatively rare. A generalized overgrowth syndrome should be suspected when tall stature and macrocephaly are present, after ruling out nutritional excess and endocrinopathies. Sotos syndrome is a well-de…
The FACIAL network as a model of craniofacial team science Open
The Facial Asymmetry Collaborative for Interdisciplinary Assessment and Learning (FACIAL) network applies key principles of established team science while using equity-based approaches that advance career development and accelerating colla…
Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research Open
Background Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and …