S. Aradhya

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Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

S. South, Ankita Patel, E. Thorland, 2019, Genetics in Medicine.

The DNA sequence of the human X chromosome

David L. Steffen, R. Durbin, A. Coulson, 2005, Nature.

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

R. Nussbaum, S. Aradhya, E. Haverfield, 2019, Genetics in Medicine.

A novel variant in GABRB2 associated with intellectual disability and epilepsy

A. Fatemi, S. Aradhya, S. Srivastava, 2014, American journal of medical genetics. Part A.

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Swaroop Aradhya, Michael R Rossi, Vineith Kaul, 2011, Genetics in Medicine.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Urvashi Surti, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28.

A. Poustka, T. Esposito, M. D'urso, 2002, Genomics.

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR

R. Truty, S. Aradhya, K. Nykamp, 2021, Human mutation.

Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.

R. Nussbaum, T. Callis, R. Truty, 2021, Circulation. Genomic and precision medicine.

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy

Sean T. Hwang, A. Berg, R. Truty, 2021, Neurology: Genetics.

Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program

R. Truty, S. Aradhya, S. Bristow, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

R. Nussbaum, R. Truty, S. Aradhya, 2020, Neurology: Genetics.

Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment

J. Orange, R. Truty, S. Aradhya, 2020, Immunologic research.

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR

R. Truty, S. Aradhya, K. Nykamp, 2020, medRxiv.

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Joshua S. Paul, Eric C. Olivares, M. Kennemer, 2018, Genetics in Medicine.

Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))

Stephan J Sanders, D. Ledbetter, U. Surti, 2011 .

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance

R. Truty, S. Aradhya, K. Nykamp, 2022, American journal of medical genetics. Part A.

Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.

S. Bale, Soma Das, S. Aradhya, 2014, The Journal of molecular diagnostics : JMD.

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.

D. Ledbetter, J. Sutcliffe, S. Christian, 1996, American journal of medical genetics.

A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.

H. Fuchs, G. Barsh, S. Aradhya, 2006, The Journal of investigative dermatology.

Genetic analysis of attractin homologs

G. Barsh, S. Aradhya, Che-lin Hu, 2007, Genesis.

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

D. Ledbetter, L. Surh, S. Aradhya, 1996, Journal of medical genetics.

Nablus mask‐like facial syndrome is caused by a microdeletion of 8q detected by array‐based comparative genomic hybridization

H. Hoyme, A. Cherry, S. Aradhya, 2006, American journal of medical genetics. Part A.

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

G. Carvill, R. Nussbaum, R. Sankar, 2019, Epilepsia open.

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

L. Shaffer, T. Esposito, M. D'urso, 2001, American journal of human genetics.

Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African‐American brothers

S. Aradhya, L. Messiaen, A. Vargas, 2013, American journal of medical genetics. Part A.

Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.

A. Poustka, A. Ciccodicola, T. Esposito, 2000, American journal of medical genetics.

Scalable detection of technically challenging variants through modified next‐generation sequencing

Joshua S. Paul, Daniel J. Kvitek, M. Kennemer, 2022, Molecular genetics & genomic medicine.

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

J. Orange, S. Aradhya, Britt Johnson, 2022, Frontiers in Immunology.

X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3

S. Aradhya, Kristin L. Robinson, D. Primorac, 2021, Genes.

Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.

A. Cherry, D. Pineda-Alvarez, S. Aradhya, 2015, American journal of obstetrics and gynecology.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Robert P. Carson, Robert C. Pedersen, Sean T. Hwang, 2022, JAMA neurology.

Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine

R. Nussbaum, S. Aradhya, Shan Yang, 2018, Genetics in Medicine.

NF-kappaB signaling and human disease.

D. Nelson, S. Aradhya, 2001, Current opinion in genetics & development.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations

S. Aradhya, M. Marble, N. Smaoui, 2011, American journal of medical genetics. Part A.

Nanosecond-Timescale Low Energy Switching of In-Plane Magnetic Tunnel Junctions through Dynamic Oersted-Field-Assisted Spin Hall Effect.

D. Ralph, R. Buhrman, S. Aradhya, 2016, Nano letters.

Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

S. Klauck, A. Poustka, A. Ciccodicola, 2000, Nature.

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).

G. Courtois, A. Israël, D. Nelson, 2001, American journal of human genetics.

Mutation analysis of the DKC1 gene in incontinentia pigmenti

A. Poustka, A. Ciccodicola, T. Esposito, 1999, Journal of medical genetics.

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

S. Seal, M. Kennemer, R. Nussbaum, 2020, Genetics in Medicine.

NF-κB signaling and human disease

Swaroop Aradhya, David L. Nelson, D. Nelson, 2001 .

A de novo 2.1‐Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

B. Rosenblatt, S. Aradhya, V. D. Der Kaloustian, 2011, American journal of medical genetics. Part A.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.

A. Ciccodicola, T. Esposito, M. D'urso, 2001, Human molecular genetics.

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

C. Shaw, T. Esposito, M. D'urso, 2001, Human molecular genetics.

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

S. Bale, D. Pineda-Alvarez, S. Aradhya, 2014, Genetics in Medicine.

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Jack M. Fu, Joseph T. Glessner, 2021, Cell.

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Joshua S. Paul, M. Kennemer, R. Nussbaum, 2018, Genetics in Medicine.

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

E. Wirrell, R. Sankar, R. Truty, 2022, Epilepsia.

Whole‐genome array‐CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features

A. Cherry, S. Aradhya, M. Manning, 2007, American journal of medical genetics. Part A.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Genetics in mainstream medicine: Finally within grasp to influence healthcare globally

R. Nussbaum, S. Aradhya, 2018, Molecular genetics & genomic medicine.

Counting Chromosomes to Exons: Advances in Copy Number Detection

S. Girirajan, A. Cherry, S. Aradhya, 2013, Current Genetic Medicine Reports.

Towards an evidence‐based process for the clinical interpretation of copy number variation

E. Thorland, E. Riggs, S. Aradhya, 2012, Clinical genetics.

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

S. Aradhya, N. Smaoui, G. Richard, 2012, Genetics in Medicine.

An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities

Gabriele, D. Church, W. Sanger, 2022 .

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

S. Schwartz, L. Shaffer, Ankita Patel, 2009, Genetics in Medicine.

Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs

A. Cherry, S. Aradhya, 2007, Genetics in Medicine.

The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages.

S. Aradhya, T. Sahoo, R. Slim, 2022, Reproductive biomedicine online.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome

S. Aradhya, J. Duby, J. Meck, 2013, American journal of medical genetics. Part A.

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

S. Klauck, A. Poustka, A. Ciccodicola, 2000, Nature.

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

J. Rosenfeld, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

R. Nussbaum, K. Ormond, S. Aradhya, 2021, BMC Medicine.

Democratizing genomics: Leveraging software to make genetics an integral part of routine care

Moran Snir, Shivani Nazareth, Emilie Simmons, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

S. South, Ankita Patel, E. Thorland, 2021, Genetics in Medicine.

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

R. Nussbaum, R. Truty, Sarah Garcia, 2021, American journal of human genetics.

Severe intellectual disability and autistic features associated with microduplication 2q23.1

S. Scherer, B. Chung, A. C. Lionel, 2011, European Journal of Human Genetics.

An interlaboratory study of complex variant detection

Marc L. Salit, Eric W. Klee, Nazneen Rahman, 2017, bioRxiv.

Utility of RNA Sequencing Analysis in the Context of Genetic Testing

S. Aradhya, K. Nykamp, Jackie Tahiliani, 2020, Current Genetic Medicine Reports.

RUNX2 Quadruplication: Additional Evidence Toward a New Form of Syndromic Craniosynostosis

S. Aradhya, T. He, D. Waggoner, 2013, The Journal of craniofacial surgery.

A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.

J. Jonsson, P. Ludvígsson, S. Aradhya, 2012, European journal of medical genetics.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

S. Aradhya, K. Reddy, J. Meck, 2012, Genetics in Medicine.

Response to “The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)”

R. Nussbaum, S. Aradhya, E. Haverfield, 2019, Genetics in Medicine.

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

E. Fombonne, S. Aradhya, M. Dubé, 2008, Human molecular genetics.

The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD

Asia D. Mitchell, S. Aradhya, Alexander R. Chang, 2022, Kidney360.

The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism.

D. Nelson, S. Aradhya, M. Momoi, 2002, Genomics.

Response to Maya et al.

S. South, Ankita Patel, E. Thorland, 2020, Genetics in Medicine.

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

R. Truty, S. Aradhya, S. Bristow, 2021, Frontiers in Neurology.

High-throughput splicing assays identify known and novel WT1 exon 9 variants in nephrotic syndrome

J. Kitzman, S. Aradhya, B. Burugula, 2023, medRxiv.

Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two‐year‐old female

S. Aradhya, E. Huang, S. Shankar, 2019, Pediatric blood & cancer.

Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

R. Nussbaum, J. Brachmann, S. Aradhya, 2021, Frontiers in Medicine.

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

R. C. Green, R. Nussbaum, K. Ormond, 2021, BMC Medicine.

Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

S. Aradhya, F. Cortés, R. Sorensen, 2020, American journal of medical genetics. Part A.

Electrothermally bonded carbon nanotube interfaces

S. Garimella, T. Fisher, S. Aradhya, 2008, 2008 11th Intersociety Conference on Thermal and Thermomechanical Phenomena in Electronic Systems.

Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.

A. Poustka, A. Ciccodicola, T. Esposito, 2000, American journal of medical genetics.

Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay.

Asia D. Mitchell, S. Aradhya, S. Bristow, 2021, Reproductive biomedicine online.

Deletion of filamin A in two female patients with periventricular nodular heterotopia

A. Afenjar, S. Aradhya, K. Boycott, 2012, American journal of medical genetics. Part A.

Applications of artificial intelligence in clinical laboratory genomics.

R. Nussbaum, S. Aradhya, Yuya Kobayashi, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Response to Spurdle et al.

S. South, E. Thorland, E. Riggs, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.

M. Kennemer, C. Kautzer, R. Nussbaum, 2023, American journal of human genetics.

Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests

V. Jobanputra, C. Marshall, H. Rehm, 2022, medRxiv.

Title : Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR

R. Truty, S. Aradhya, K. Nykamp, 2020 .