Laura S. Farach

发表

Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism

E. Langley, L. Farach, Kate Mowrey, 2022, Frontiers in Genetics.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Bradley P. Coe, Mahshid S. Azamian, Lisa T. Emrick, 2016, American journal of human genetics.

The first reported case of Loeys‐Dietz syndrome in a patient with biallelic SMAD3 variants

S. Morris, J. Hecht, L. Farach, 2020, American journal of medical genetics. Part A.

Therapeutic challenges in treating patients with fragile X syndrome and neoplasia

A. Paulino, A. Farach, Laura S. Farach, 2013, Pediatric blood & cancer.

Clinical and biochemical outcomes in cobalamin C deficiency with use of high‐dose hydroxocobalamin in the early neonatal period

Marta Frigeni, L. Farach, Abigail Kacpura, 2022, American journal of medical genetics. Part A.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

M. Koenig, P. Mancias, Stuart M. Fraser, 2021, Molecular genetics & genomic medicine.

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.

G. Cutter, B. Scherrer, Melissa A. Richard, 2020, Pediatric neurology.

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex

D. Pearson, C. Stumpel, M. Nellist, 2017, American journal of medical genetics. Part A.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype

Victoria F Wagner, P. Hillman, Joseph W. Ray, 2019, American journal of medical genetics. Part A.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

C. Logan, A. Jackson, M. Bober, 2018, American journal of medical genetics. Part A.

Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions

Jessica M. Davis, S. Noblin, P. Mancias, 2019, Journal of child neurology.

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

L. Thomas, M. Nellist, J. Sampson, 2023, Human Mutation.

Mild TSC Phenotype and Non-Penetrance Associated with a Frameshift Variant in TSC2 Prompts Caution in Evaluating Pathogenicity of Frameshift Variants.

R. Ekong, P. Crino, M. Nellist, 2023, Gene.

NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent

M. Koenig, H. Northrup, David F Rodriguez-Buritica, 2022, American journal of medical genetics. Part A.

Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model

B. Stevens, C. Singletary, S. Hashmi, 2020, Prenatal diagnosis.

Massive macroglossia, a rare side effect of COVID-19: clinical, histologic, and genomic findings in COVID-19-positive versus COVID-19-negative patients

N. Vigneswaran, R. Karam, K. Saluja, 2022, Oral and Maxillofacial Surgery.

The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment.

D. Pearson, S. Roberds, H. Northrup, 2019, Pediatric neurology.

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

B. Scherrer, D. Pearson, S. Roberds, 2019, Pediatric neurology.