J. Neidich

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Clinical application of whole-exome sequencing across clinical indications

W. Chung, S. Bale, D. Pineda-Alvarez, 2015, Genetics in Medicine.

First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.

X. Pivot, M. Collonge-Rame, J. Neidich, 2017, Oncology reports.

Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.

Jonathan W Heusel, Catherine E Cottrell, Samantha N McNulty, 2019, American journal of human genetics.

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

G. Enns, B. Graham, B. Lanpher, 2012, Molecular genetics and metabolism.

Should All Pregnant Patients be Offered Prenatal Diagnosis Regardless of Age?

M. Druzin, L. Mccullough, J. Neidich, 1993, Obstetrics and gynecology.

Improving Accuracy of Tay Sachs Carrier Screening of the Non-Jewish Population: Analysis of 34 Carriers and Six Late-Onset Patients With HEXA Enzyme and DNA Sequence Analysis

N. Park, Weimin Sun, C. Strom, 2010, Pediatric Research.

Clinical whole‐genome sequencing in cancer diagnosis

D. Spencer, E. Duncavage, J. Neidich, 2022, Human mutation.

Utility of copy number variants in the classification of intracranial ependymoma.

Samantha N. McNulty, S. Kulkarni, S. Dahiya, 2019, Cancer genetics.

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

E. Jabs, J. Graham, W. Wilcox, 2001, American journal of medical genetics.

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Joshua L. Deignan, S. Cederbaum, J. Abdenur, 2012, Molecular genetics and metabolism.

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.

J. Abdenur, J. Neidich, F. Lorey, 2011, Molecular genetics and metabolism.

Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.

R. Nussbaum, J. Puck, B. Emanuel, 1990, The Journal of pediatrics.

X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome.

J. Puck, M. Conley, J. Sullivan, 1990, Clinical immunology and immunopathology.

Clonal analysis of solitary follicular nodules in the thyroid.

J. Puck, V. Livolsi, J. Kant, 1990, The American journal of pathology.

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

W. Chung, S. Bale, M. Hediger, 2015, Journal of Medical Genetics.

Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities.

E. Zackai, L. Whitaker, R. Schnur, 1988, American journal of medical genetics. Supplement.

Pilot Investigation of SARS-CoV-2 Secondary Transmission in Kindergarten Through Grade 12 Schools Implementing Mitigation Strategies — St. Louis County and City of Springfield, Missouri, December 2020

A. Lai, S. Tong, L. Barrios, 2021, MMWR. Morbidity and mortality weekly report.

ETV6/FLT3 fusion gene detected in a patient with T-cell lymphoblastic lymphoma

Abdulrahman, C. Abboud, J. Neidich, 2022 .

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.

S. Cederbaum, Christina Lam, Derek Wong, 2013, Molecular genetics and metabolism.

The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer

C. Strom, R. Alvero, M. Cedars, 2012, Journal of Assisted Reproduction and Genetics.

From karyotypes to precision genomics in 9p deletion and duplication syndromes

Jeffrey K. Ng, Eleanor I Sams, R. Mitra, 2021, HGG advances.

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

W. Chung, O. Devinsky, Sha Tang, 2013, Rare diseases.

Modifications to student quarantine policies in K–12 schools implementing multiple COVID-19 prevention strategies restores in-person education without increasing SARS-CoV-2 transmission risk, January-March 2021

S. Tong, L. Barrios, P. Dawson, 2022, medRxiv.

Assessing COVID-19 testing strategies in K-12 schools in underserved populations: study protocol for a cluster-randomized trial

Sheretta T. Butler-Barnes, Cynthia S. Williams, C. Caburnay, 2022, BMC Public Health.

Acceptance of Saliva-Based Specimen Collection for SARS-CoV-2 Testing Among K-12 Students, Teachers, and Staff

L. Barrios, P. Dawson, J. Salzer, 2022, Public health reports.

SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities

A. Lai, Stephanie M Morris, R. Head, 2021, Journal of neurodevelopmental disorders.

SARS-CoV-2 Screening Testing in Schools for Children with Intellectual and Developmental Disabilities

B. Schlaggar, J. Constantino, A. Lai, 2021, Journal of Neurodevelopmental Disorders.

Clinical whole-genome sequencing identifies NSD3 as the correct fusion partner of NUP98 in a patient with acute myeloid leukemia and t(8;11)(p11.2;p15): a case report

D. Spencer, Zhifu Xiang, J. Frater, 2022 .

Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.

Christopher A. Miller, R. Fulton, T. Ley, 2021, The New England journal of medicine.

Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18.

E. Zackai, D. Chitayat, M. Warman, 1987, The Journal of pediatrics.

Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly

A. Toutain, Kilannin Krysiak, B. Gilbert-Dussardier, 2021, Clinical genetics.

Complete Nasal Agenesis with Bilateral Microphthalmia and Unilateral Duplication of the Thumb

R. Ward, J. Neidich, G. Latrenta, 1995, Plastic and reconstructive surgery.

Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome).

L. Hoffman, J. Neidich, G. Latrenta, 1994, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Mutation detection with a liquid biopsy 96 mutation assay in cancer patients and healthy donors

J. Neidich, A. Kammesheidt, Xiang Li, 2017 .

Tumor Mutation Burden and Checkpoint Immunotherapy Markers in Primary and Metastatic Synovial Sarcoma.

J. Pfeifer, Ling Chen, J. Neidich, 2020, Human pathology.

The association of cleft lip and palate with Aicardi syndrome.

S. Schendel, J. Neidich, W. Umansky, 1994, Plastic and Reconstructive Surgery.

Racial disparity in maternal and fetal-cord bisphenol A concentrations

T. Hulsey, R. Newman, L. Guillette, 2012, Journal of Perinatology.

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

Henry J. Lin, A. Jonas, D. Rosenblatt, 2009, The Journal of pediatrics.

Maternal glutaric acidemia, type I identified by newborn screening.

S. Cederbaum, E. Spector, J. Neidich, 2008, Molecular genetics and metabolism.

Deletion of 2p: a cytogenetic and clinical update.

E. Zackai, B. Emanuel, J. Neidich, 1987, American journal of medical genetics.

High Coverage Highly Accurate Long-Read Sequencing of a Mouse Neuronal Cell Line Using the PacBio Revio Sequencer

L. Tallon, J. Neidich, Tychele N. Turner, 2023, bioRxiv.

High‐depth next‐generation sequencing panel testing in the evaluation of arteriovenous malformations

J. Neidich, M. Schroeder, J. Heusel, 2023, American journal of medical genetics. Part A.

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review

M. Moster, J. Pulido, J. Neidich, 2023, Genes.