C. Balak

发表

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype

S. Szelinger, D. Craig, K. Devriendt, 2018, American journal of medical genetics. Part A.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Roderick T. Hori, Harper B. Fauni, D. Adams, 2018, Human molecular genetics.

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Michael F. Wangler, V. Narayanan, E. Valente, 2022, Annals of neurology.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

R. Pfundt, S. Szelinger, V. Narayanan, 2019, American journal of human genetics.

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

S. Nelson, S. Szelinger, D. Craig, 2020, Neurology: Genetics.

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

S. Szelinger, D. Craig, V. Narayanan, 2017, Epigenomics.

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

Vinodh Narayanan, Megan Russell, Jason J. Corneveaux, 2016, Cold Spring Harbor molecular case studies.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

F. Benfenati, V. Narayanan, L. Maragliano, 2018, Brain : a journal of neurology.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Roderick T. Hori, Harper B. Fauni, D. Adams, 2018, Human molecular genetics.

Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

Lisa Baumbach-Reardon, C. Balak, M. E. Ahearn, 2015, American journal of medical genetics. Part A.

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

S. Szelinger, D. Craig, V. Narayanan, 2019, Human Genetics.

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

S. Szelinger, D. Craig, V. Narayanan, 2017, F1000Research.

Complex genetic network underlying the convergent of Rett Syndrome like (RTT-L) phenotype in neurodevelopmental disorders

S. Szelinger, D. Craig, Raj Gupta, 2020, bioRxiv.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

I. Scheffer, H. Mefford, N. Brunetti‐Pierri, 2020, Epilepsia.

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Winnie S. Liang, J. Carpten, S. Coons, 2015, Molecular genetics & genomic medicine.

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

A. Fatemi, V. Narayanan, C. Brownstein, 2018, American journal of medical genetics. Part A.

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

V. Narayanan, M. Shinawi, D. Koeberl, 2022, Clinical Genetics.

Integrated phenotypic and genotypic approach defines EBF3-related genotype-phenotype relationships

Michael F. Wangler, V. Narayanan, E. Valente, 2020, medRxiv.

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

Lisa Baumbach-Reardon, D. Wiley, J. Hunter, 2017, F1000Research.

Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers

C. Geula, M. Mesulam, E. Bigio, 2018, Front. Aging Neurosci..

Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2

S. Szelinger, Raj Gupta, V. Narayanan, 2019, Clinical genetics.

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

N. Schork, S. Szelinger, V. Narayanan, 2023, Cells.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

S. Szelinger, D. Craig, V. Narayanan, 2017, Seminars in pediatric neurology.

Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome

S. Szelinger, W. Dreschler, K. Devriendt, 2018, American Journal of Medical Genetics Part A.