Janice L. Smith

发表

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

Ankita Patel, Chad A. Shaw, Carlos A. Bacino, 2013, PLoS genetics.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, C. Shaw, J. Lupski, 2020, Genetics in Medicine.

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

S. Pulst, J. Carey, G. Mirzaa, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

P. Stankiewicz, P. Szafranski, Ankita Patel, 2014, European Journal of Human Genetics.

Cell-free DNA 5-hydroxymethylcytosine is an emerging marker of acute myeloid leukemia

Chuan He, Y. Zu, Zejuan Li, 2022, Scientific Reports.

Positive predictive value estimates for cell‐free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

A. Breman, S. Cheung, P. Ward, 2017, American journal of obstetrics and gynecology.

Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions

A. Breman, I. B. Van den Veyver, Shen Gu, 2018, Prenatal diagnosis.

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

S. Schwartz, A. Hamosh, P. Papenhausen, 2013, American journal of medical genetics. Part A.

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings

S. Erdin, J. Gusella, M. Talkowski, 2017, American journal of medical genetics. Part A.

Rescue karyotyping: a case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue

Marilyn M. Li, Ankita Patel, Z. Williams, 2014, Reproductive Biology and Endocrinology.

Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother

Marianna H. Raia, Joanne Nguyen, Candace N Gamble, 2014, Prenatal diagnosis.

Deletion 12q: A second patient with 12q24.31q24.32 deletion

H. Northrup, Janice L. Smith, Pamela L Plotner, 2003, American journal of medical genetics. Part A.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

H. Hakonarson, Dong Li, E. Bhoj, 2022, Molecular genetics & genomic medicine.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

S. Schwartz, P. Papenhausen, A. Carroll, 2011, Human Genetics.

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.

Justyna A. Karolak, J. Rosenfeld, P. Stankiewicz, 2020, Genomics.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

Mechanisms for Complex Chromosomal Insertions

P. Stankiewicz, A. Breman, P. Szafranski, 2016, PLoS genetics.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development

P. Stankiewicz, A. Breman, Ankita Patel, 2017, Human mutation.

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive

A. Breman, Ankita Patel, J. Posey, 2016, American journal of medical genetics. Part A.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family

H. Hakonarson, J. Carey, Dong Li, 2020, Molecular genetics & genomic medicine.

Genetic diagnosis of Down syndrome in an underserved community

S. Elsea, Janice L. Smith, J. Stevens, 2018, American journal of medical genetics. Part A.

What Is the Clinical Utility of Repeat SNP Array Testing in the Follow-up of Myeloid Neoplasms?: A Retrospective Analysis of 44 Patients With Serial SNP Arrays

J. Cook, Janice L. Smith, Basma M. Basha, 2017, American journal of clinical pathology.

Using Cytogenetic Rearrangements for Cancer Prognosis and Treatment (Pharmacogenetics)

Marilyn M. Li, Janice L. Smith, A. Ewton, 2013, Current Genetic Medicine Reports.

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Wei Li, Christian P Schaaf, J. Rosenfeld, 2015, eLife.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Fluorescence In Situ Hybridization Probe Validation for Clinical Use.

J. Gu, Janice L. Smith, P. Dowling, 2017, Methods in molecular biology.

Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.

H. Northrup, Janice L. Smith, Pamela L Plotner, 2002, American journal of medical genetics.

Author response: NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

J. Rosenfeld, E. Roeder, S. Cheung, 2015 .

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies.

L. Shaffer, K. Hegmann, A. Spikes, 1995, American journal of medical genetics.

A new case of adult Acute Myeloid Leukemia with t(3;3)(p24;q26)

S. Pingali, Amy M. Breman, Janice L. Smith, 2019, Atlas of Genetics and Cytogenetics in Oncology and Haematology.