Julie Neidich

2025

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations

Ghasemi, R., Corliss, M. M., Bowling, K. M., Krysiak, K., Walker, J., Dickson, A. M., Schroeder, M. C., Parikh, B. A., Neidich, J. A., Polonis, K. & Cao, Y., Apr 2025, In: Clinical Genetics. 107, 4, p. 458-462 5 p.

Research output: Contribution to journal › Article › peer-review

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism

Leon-Quintero, F. Z., Bowling, K. M., Dickson, A., Corliss, M. M., Schroeder, M. C., Neidich, J. A., Heusel, J. W., Krysiak, K., Polonis, K., Parikh, B. A. & Cao, Y., Mar 2025, In: Clinical Genetics. 107, 3, p. 261-270 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

2024

Clinical whole-genome sequencing and FISH identify two different fusion partners for NUP98 in a patient with acute myeloid leukemia: A case report

Mojarad, B. A., Crees, Z. D., Schroeder, M. C., Xiang, Z., Vader, J., Sina, J., Jacoby, M., Frater, J. L., Duncavage, E. J., Spencer, D. H., Lavine, K., Neidich, J. A. & Amarillo, I., Jan 2024, In: Cancer Genetics. 280-281, p. 1-5 5 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies

Vaseghi, P., Habibi, L., Neidich, J. A., Cao, Y., Fattahi, N., Rashidi-Nezhad, R., Salehnezhad, T., Dalili, H., Rahimi Sharbaf, F., Zarkesh, M. R., Malekian, M., Mokhberdezfuli, M., Mehrtash, A., Ardeshirdavani, A., Kariminejad, R., Ghorbansabagh, V., Sadeghimoghadam, P., Naddaf, A., Esmaeilnia Shirvany, T. & Mosayebi, Z. & 10 others, Sahebdel, B., Golshahi, F., Shirazi, M., Shamel, S., Moeini, R., Heidari, A., Daneshmand, M. A., Ghasemi, R., Akrami, S. M. & Rashidi-Nezhad, A., Oct 2024, In: European Journal of Human Genetics. 32, 10, p. 1238-1249 12 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

2023

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism

Claire Hou, Y. C., Evenson, M. J., Corliss, M. M., Mahapatra, L., Aldawood, A., Carpentieri, D. F., Chamlin, S. L., Kulungowski, A. M., Madan-Khetarpal, S., Sebastian, J., Pet, M. A., Coughlin, C. C., Willing, M. C., Pearson, G. D., Setty, B. A., El-Haffaf, Z., Cottrell, C. E., Parikh, B. A., Krysiak, K. & Schroeder, M. C. & 3 others, Heusel, J. W., Neidich, J. A. & Cao, Y., Mar 2023, In: Genetics in Medicine. 25, 3, 100348.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism

Cao, Y., Evenson, M. J., Corliss, M. M., Schroeder, M., Heusel, J. & Neidich, J. A., Jan 2023, In: Genetics in Medicine Open. 1, 1, 100807.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

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

Procopio, R., Pulido, J. S., Gunton, K. B., Syed, Z. A., Lee, D., Moster, M. L., Sergott, R., Neidich, J. A. & Reynolds, M. M., Mar 2023, In: Genes. 14, 3, 738.

Research output: Contribution to journal › Article › peer-review

Open Access

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

Hernandez, P. V., King, K. A., Evenson, M. J., Corliss, M. M., Schroeder, M. C., Heusel, J. W., Neidich, J. A. & Cao, Y., Jun 2023, In: American Journal of Medical Genetics, Part A. 191, 6, p. 1518-1524 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Profiling PIK3CA variants in disorders of somatic mosaicism

Mojarad, B. A., Hernandez, P. V., Evenson, M. J., Corliss, M. M., Stein, S. L., Theos, A., Coughlin, C., Sisk, B., Menezes, M., Schroeder, M., Heusel, J., Neidich, J. A. & Cao, Y., Jan 2023, In: Genetics in Medicine Open. 1, 1, 100815.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

2022

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

SARS-CoV-2 Specimen Collection Field Team, May 2022, In: Public Health Reports. 137, 3, p. 557-563 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

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

Hayes, S., Malone, S., Bonty, B., Mueller, N., Reyes, S. M., Reyes, S. A., Evans, C., Wilcher-Roberts, M., Watterson, T., Akuse, S., Shelley, J., Yuan, G., Lackey, I., Prater, J., Montgomery, B., Williams, C., Butler-Barnes, S. T., Caburnay, C., Dougherty, N. L. & Lu, E. & 4 others, Lai, A., Neidich, J., Fritz, S. & Newland, J. G., Dec 2022, In: BMC Public Health. 22, 1, 1177.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

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

Sams, E. I., Ng, J. K., Tate, V., Claire Hou, Y. C., Cao, Y., Antonacci-Fulton, L., Belhassan, K., Neidich, J., Mitra, R. D., Cole, F. S., Dickson, P., Milbrandt, J. & Turner, T. N., Jan 13 2022, In: Human Genetics and Genomics Advances. 3, 1, 100081.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

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

COVID-19 Response Fieldwork Laboratory Teams, Missouri School District Data Coordination Group, Malone, S., Fritz, S. A., Montgomery, B. K., Boyle, M., Maricque, B., Lai, A. M., Neidich, J. A., Orscheln, R. C., Newland, J. G., Greene, S., Hall, J. & Plattner, A. S., Oct 2022, In: PloS one. 17, 10 October, e0266292.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations

Lee, A., Neidich, J. & Nguyen, H., Jul 1 2022, In: Missouri Medicine. 119, 4, p. 390-396 7 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

2021

Genome sequencing as an alternative to cytogenetic analysis in myeloid cancers

Duncavage, E. J., Schroeder, M. C., O'Laughlin, M., Wilson, R., MacMillan, S., Bohannon, A., Kruchowski, S., Garza, J., Du, F., Hughes, A. E. O., Robinson, J., Hughes, E., Heath, S. E., Baty, J. D., Neidich, J., Christopher, M. J., Jacoby, M. A., Uy, G. L., Fulton, R. S. & Miller, C. A. & 7 others, Payton, J. E., Link, D. C., Walter, M. J., Westervelt, P., DiPersio, J. F., Ley, T. J. & Spencer, D. H., Mar 11 2021, In: New England Journal of Medicine. 384, 10, p. 924-935 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

193 Scopus citations

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

Uguen, K., Krysiak, K., Audebert-Bellanger, S., Redon, S., Benech, C., Viora-Dupont, E., Tran Mau-Them, F., Rondeau, S., Elsharkawi, I., Granadillo, J. L., Neidich, J., Soares, C. A., Tkachenko, N., M. Amudhavalli, S., Engleman, K., Boland, A., Deleuze, J. F., Bezieau, S., Odent, S. & Toutain, A. & 8 others, Bonneau, D., Gilbert-Dussardier, B., Faivre, L., Rio, M., Le Marechal, C., Ferec, C., Repnikova, E. & Cao, Y., Oct 2021, In: Clinical Genetics. 100, 4, p. 386-395 10 p.

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Immunoglobulin Variable Heavy Chain Somatic Hypermutation Testing in a Patient with Small Lymphocytic Lymphoma and Multiple Myeloma

Saadalla, A. M., Goldsmith, S. R., Neidich, J. A., Duncavage, E. J. & Parikh, B. A., Nov 1 2021, In: The journal of applied laboratory medicine. 6, 6, p. 1665-1670 6 p.

Research output: Contribution to journal › Article › peer-review

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

Dawson, P., Worrell, M. C., Malone, S., Tinker, S. C., Fritz, S., Maricque, B., Junaidi, S., Purnell, G., Lai, A. M., Neidich, J. A., Lee, J. S., Orscheln, R. C., Charney, R., Rebmann, T., Mooney, J., Yoon, N., Petit, M., Schmidt, S., Grabeel, J. & Neill, L. A. & 7 others, Barrios, L. C., Vallabhaneni, S., Williams, R. W., Goddard, C., Newland, J. G., Neatherlin, J. C. & Salzer, J. S., 2021, In: Morbidity and Mortality Weekly Report. 70, 12, p. 449-455 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

66 Scopus citations

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

for the COMPASS-T Study Group, Dec 2021, In: Journal of neurodevelopmental disorders. 13, 1, 31.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

2020

Tumor mutation burden and checkpoint immunotherapy markers in primary and metastatic synovial sarcoma

He, M., Abro, B., Kaushal, M., Chen, L., Chen, T., Gondim, M., Yan, W., Neidich, J., Dehner, L. P. & Pfeifer, J. D., Jun 2020, In: Human Pathology. 100, p. 15-23 9 p.

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

Utility of copy number variants in the classification of intracranial ependymoma

Evenson, M., Cai, C., Hucthagowder, V., McNulty, S., Neidich, J., Kulkarni, S. & Dahiya, S., Jan 2020, In: Cancer Genetics. 240, p. 66-72 7 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

2019

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

McNulty, S. N., Evenson, M. J., Corliss, M. M., Love-Gregory, L. D., Schroeder, M. C., Cao, Y., Lee, Y. S., Drolet, B. A., Neidich, J. A., Cottrell, C. E. & Heusel, J. W., Oct 3 2019, In: American journal of human genetics. 105, 4, p. 734-746 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

26 Scopus citations

2017

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

Meynard, G., Mansi, L., Lebahar, P., Villanueva, C., Klajer, E., Calcagno, F., Vivalta, A., Chaix, M., Collonge-Rame, M. A., Populaire, C., Algros, M. P., Colpart, P., Neidich, J., Pivot, X. & Curtit, E., Mar 2017, In: Oncology reports. 37, 3, p. 1573-1578 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

2016

Clinical application of whole-exome sequencing across clinical indications

Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., McKnight, D., Bai, R., Suchy, S., Friedman, B., Tahiliani, J., Pineda-Alvarez, D., Richard, G., Brandt, T., Haverfield, E. & Chung, W. K. & 1 others, Bale, S., Jul 1 2016, In: Genetics in Medicine. 18, 7, p. 696-704 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

793 Scopus citations

2015

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

Damseh, N., Simonin, A., Jalas, C., Picoraro, J. A., Shaag, A., Cho, M. T., Yaacov, B., Neidich, J., Al-Ashhab, M., Juusola, J., Bale, S., Telegrafi, A., Retterer, K., Pappas, J. G., Moran, E., Cappell, J., Yeboa, K. A., Abu-Libdeh, B., Hediger, M. A. & Chung, W. K. & 2 others, Elpeleg, O. & Edvardson, S., 2015, In: Journal of Medical Genetics. 52, 8, p. 541-547 7 p.

Research output: Contribution to journal › Article › peer-review

69 Scopus citations

2014

The childless man

Scheuerle, A. E., Picconi, J. L., Neidich, J., Panny, S., Plecher, B. A., Randolph, L. M., Trapane, P. & Trotter, T. L., Feb 2014, In: American Journal of Medical Genetics, Part A. 164, 2, p. 561 1 p.

Research output: Contribution to journal › Article › peer-review

2013

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

Lam, C., Carter, J. M., Cederbaum, S. D., Neidich, J., Gallant, N. M., Lorey, F., Feuchtbaum, L. & Wong, D. A., Dec 2013, In: Molecular genetics and metabolism. 110, 4, p. 477-483 7 p.

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

2012

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

Gallant, N. M., Leydiker, K., Tang, H., Feuchtbaum, L., Lorey, F., Puckett, R., Deignan, J. L., Neidich, J., Dorrani, N., Chang, E., Barshop, B. A., Cederbaum, S. D., Abdenur, J. E. & Wang, R. Y., May 2012, In: Molecular genetics and metabolism. 106, 1, p. 55-61 7 p.

Research output: Contribution to journal › Article › peer-review

66 Scopus citations

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

Arnold, G. L., Salazar, D., Neidich, J. A., Suwannarat, P., Graham, B. H., Lichter-Konecki, U., Bosch, A. M., Cusmano-Ozog, K., Enns, G., Wright, E. L., Lanpher, B. C., Owen, N. N., Lipson, M. H., Cerone, R., Levy, P., Wong, L. J. C. & Dezsofi, A., Aug 2012, In: Molecular genetics and metabolism. 106, 4, p. 439-441 3 p.

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Racial disparity in maternal and fetal-cord bisphenol A concentrations

Unal, E. R., Lynn, T., Neidich, J., Salazar, D., Goetzl, L., Baatz, J. E., Hulsey, T. C., Van Dolah, R., Guillette, L. J. & Newman, R., Nov 2012, In: Journal of Perinatology. 32, 11, p. 844-850 7 p.

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

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

Strom, C. M., Bonilla-Guererro, R., Zhang, K., Doody, K. J., Tourgeman, D., Alvero, R., Cedars, M. I., Crossley, B., Pandian, R., Sharma, R., Neidich, J. & Salazar, D., Jul 2012, In: Journal of Assisted Reproduction and Genetics. 29, 7, p. 609-614 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

2011

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

Leydiker, K. B., Neidich, J. A., Lorey, F., Barr, E. M., Puckett, R. L., Lobo, R. M. & Abdenur, J. E., May 2011, In: Molecular genetics and metabolism. 103, 1, p. 92-95 4 p.

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

2010

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

Park, N. J., Morgan, C., Sharma, R., Li, Y., Lobo, R. M., Redman, J. B., Salazar, D., Sun, W., Neidich, J. A. & Strom, C. M., Feb 2010, In: Pediatric research. 67, 2, p. 217-220 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

21 Scopus citations

2009

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

Lin, H. J., Neidich, J. A., Salazar, D., Thomas-Johnson, E., Ferreira, B. F., Kwong, A. M., Lin, A. M., Jonas, A. J., Levine, S., Lorey, F. & Rosenblatt, D. S., Dec 2009, In: Journal of Pediatrics. 155, 6, p. 924-927 4 p.

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

2008

Maternal glutaric acidemia, type I identified by newborn screening

Crombez, E. A., Cederbaum, S. D., Spector, E., Chan, E., Salazar, D., Neidich, J. & Goodman, S., May 2008, In: Molecular genetics and metabolism. 94, 1, p. 132-134 3 p.

Research output: Contribution to journal › Article › peer-review

Open Access

36 Scopus citations

2001

"Baby rattle" pelvis dysplasia

Cormier-Daire, V., Savarirayan, R., Lachman, R. S., Neidich, J. A., Grace, K., Rimoin, D. L. & Wilcox, W. R., Apr 15 2001, In: American journal of medical genetics. 100, 1, p. 37-42 6 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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

Schweitzer, D. N., Graham, J. M., Lachman, R. S., Jabs, E. W., Okajima, K., Przylepa, K. A., Shanske, A., Chen, K., Neidich, J. A. & Wilcox, W. R., Jan 1 2001, In: American journal of medical genetics. 98, 1, p. 75-91 17 p.

Research output: Contribution to journal › Article › peer-review

41 Scopus citations

1996

Frontonasal malformation and cloacal exstrophy: A previously unreported association

Robin, N. H., Neidich, J. A., Bason, L. D., Whitaker, L. A., McDonald-McGinn, D., Hunter, J., Snyder, H. M. & Zackai, E. H., Jan 2 1996, In: American journal of medical genetics. 61, 1, p. 75-78 4 p.

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

1995

Complete nasal agenesis with bilateral microphthalmia and unilateral duplication of the thumb

Latrenta, G. S., Choi, H. W., Ward, R. F., Hoffman, L. & Neidich, J. A., May 1995, In: Plastic and reconstructive surgery. 95, 6, p. 1101-1104 4 p.

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

1994

Midline defects of the orofaciodigital syndrome type VI (Varadi syndrome)

Wey, P. D., Neidich, J. A., Hoffman, L. A. & LaTrenta, G. S., 1994, In: Cleft Palate-Craniofacial Journal. 31, 5, p. 397-400 4 p.

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

Report: The association of cleft lip and palate with aicardi syndrome

Umansky, W. S., Neidich, J. A. & Schendel, S. A., Mar 1994, In: Plastic and reconstructive surgery. 93, 3, p. 595-597 3 p.

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

1993

Should all pregnant patients be offered prenatal diagnosis regardless of age?

Druzin, M. L., Chervenak, F., McCullough, L. B., Blatman, R. N. & Neidich, J. A., Apr 1993, In: Obstetrics and gynecology. 81, 4, p. 615-618 4 p.

Research output: Contribution to journal › Article › peer-review

31 Scopus citations

1990

Clonal analysis of solitary follicular nodules in the thyroid

Hicks, D. G., LiVolsi, V. A., Neidich, J. A., Puck, J. M. & Kant, J. A., Sep 1990, In: American Journal of Pathology. 137, 3, p. 553-562 10 p.

Research output: Contribution to journal › Article › peer-review

70 Scopus citations

Heterogeneity of clinical severity and molecular lesions in Aircardi syndrome

Neidich, J. A., Nussbaum, R. L., Packer, R. J., Emanuel, B. S. & Puck, J. M., Jun 1990, In: The Journal of Pediatrics. 116, 6, p. 911-917 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

55 Scopus citations

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

Conley, M. E., Sullivan, J. L., Neidich, J. A. & Puck, J. M., Jun 1990, In: Clinical Immunology and Immunopathology. 55, 3, p. 486-491 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

1988

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

Neidich, J. A., Whitaker, L. A., Natowicz, M., McDonald, D. M., Schnur, R. & Zackai, E. H., 1988, In: American journal of medical genetics. Supplement. 4, p. 161-166 6 p.

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Trisomy 18 score: A rapid, reliable diagnostic test for trisomy 18

Marion, R. W., Chitayat, D., Hutcheon, R. G., Neidich, J. A., Zackal, E. H., Singer, L. P. & Warman, M., Jul 1988, In: The Journal of Pediatrics. 113, 1 PART 1, p. 45-48 4 p.

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

1987

Deletion of 2p: A cytogenetic and clinical update

Neidich, J., Zackai, E., Aronson, M. & Emanuel, B. S., 1987, In: American journal of medical genetics. 27, 3, p. 707-710 4 p.

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

Julie Neidich

Research output

Search results