Smrithi Salian
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View article: Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans Open
View article: <i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
<i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia Open
Background Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders. Objective T…
View article: Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in <i>GPAA1</i>
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in <i>GPAA1</i> Open
Clinical features of the cases reported broaden the spectrum of the known phenotype of GPAA1-related GPI deficiency, while outlining the importance of using functional studies such as flow cytometry to aid in variant classification.
View article: Epileptic encephalopathy caused by <scp>ARV1</scp> deficiency: Refinement of the genotype–phenotype spectrum and functional impact on <scp>GPI</scp> ‐anchored proteins
Epileptic encephalopathy caused by <span>ARV1</span> deficiency: Refinement of the genotype–phenotype spectrum and functional impact on <span>GPI</span> ‐anchored proteins Open
Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1 , encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesi…
View article: Author response for "Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins"
Author response for "Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins" Open
View article: De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy Open
View article: A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL
A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL Open
View article: Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor Open
Pycnodysostosis is an autosomal recessive skeletal dysplasia caused by pathogenic variants in the cathepsin K (CTSK) gene. We report seven patients from four unrelated families with this condition in whom we have identified three novel pat…
View article: Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene Open
Brachydactyly type A1 (BDA1) is characterized by short middle phalanges. We report the case of a child with a severe form of BDA1 with complete absence of the middle phalanges of all extremities. He had c.298G > A (p.D100N) mutation in IHH…
View article: Variable presentation of Fraser syndrome in two fetuses and a novel mutation in <i>FRAS1</i>
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in <i>FRAS1</i> Open
We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293‐2A>T in FRAS1 . We woul…
View article: Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis
Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis Open
In genetically and phenotypically heterogeneous conditions like ichthyosis, it is clinically not possible to predict mutation in a specific gene. Sequential testing of all the causative genes is time consuming and expensive. In consanguine…
View article: Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant
Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant Open
Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene wi…