V. Aggarwal

发表

Variant Interpretation and Genomic Medicine

D. Goldstein, S. Petrovski, K. Carss, 2019, Handbook of Statistical Genomics.

Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.

A. Gharavi, K. Kiryluk, S. Sanna-Cherchi, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Diagnostic Utility of Exome Sequencing for Kidney Disease

Chunhua Weng, Krzysztof Kiryluk, Jai Radhakrishnan, 2019, The New England journal of medicine.

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

S. Ellard, K. Muthusamy, R. Møller, 2022, medRxiv.

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

Ryan L. Collins, Stephan J Sanders, D. MacArthur, 2020 .

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Mahshid S. Azamian, J. Rosenfeld, S. Lalani, 2020, American journal of human genetics.

A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

V. Aggarwal, N. Lippa, J. Bain, 2021, BMC Neurology.

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.

B. Morrow, J. Locker, V. Aggarwal, 2006, Human molecular genetics.

Identification of downstream genetic pathways of Tbx1 in the second heart field.

B. Morrow, V. Aggarwal, S. Nowotschin, 2008, Developmental biology.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Rare-variant collapsing analyses for complex traits: guidelines and applications

D. Goldstein, A. Allen, S. Petrovski, 2019, Nature Reviews Genetics.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

N. Brunetti‐Pierri, M. Mansukhani, F. Santos-Simarro, 2021, American journal of medical genetics. Part A.

The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders

V. Jobanputra, A. Shabalin, Anthony W. Zoghbi, 2021, Molecular Psychiatry.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Frédérick A. Mallette, Dagmar Glatz, V. Aggarwal, 2020, Genetics in Medicine.

Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?

S. Sanna-Cherchi, V. Aggarwal, D. Ahram, 2020, American journal of kidney diseases : the official journal of the National Kidney Foundation.

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

I. Scheffer, D. Goldstein, H. Goodkin, 2019, Epilepsia.

Causal Genetic Variants in Stillbirth.

Christie M. Buchovecky, D. Goldstein, C. Parker, 2020, The New England journal of medicine.

Mesodermal Tbx1 is required for patterning the proximal mandible in mice.

B. Morrow, V. Aggarwal, L. Freyer, 2010, Developmental biology.

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2020, bioRxiv.

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.

B. Morrow, V. Aggarwal, 2008, Developmental disabilities research reviews.

Impact of pre‐emptive rapid testing for glucose‐6‐phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study

A. Kratz, V. Aggarwal, M. Ganapathi, 2022, British journal of clinical pharmacology.

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

D. Goldstein, V. Rotemberg, V. Aggarwal, 2017, The Journal of pediatrics.

Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis

B. Morrow, V. Aggarwal, J. S. Arnold, 2009, BMC Developmental Biology.

Fetal central nervous system anomalies: When should we offer exome sequencing?

M. Kilby, V. Aggarwal, L. Chitty, 2022, Prenatal diagnosis.

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

M. Hurles, D. Goldstein, M. Kilby, 2021, BJOG : an international journal of obstetrics and gynaecology.

Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing

V. Aggarwal, E. Baugh, A. Kim, 2022, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Chromosomal microarray versus karyotyping for prenatal diagnosis.

D. Ledbetter, L. Shaffer, Ankita Patel, 2012, The New England journal of medicine.

Dual embryonic origin of the mammalian otic vesicle forming the inner ear

B. Morrow, V. Aggarwal, L. Freyer, 2011, Development.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

Genetic modifiers of Velo- cardio- facial syndrome/DiGeorge syndrome

B. Morrow, V. Aggarwal, 2010 .

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole‐genome sequencing

V. Jobanputra, C. Morton, M. Talkowski, 2015, Prenatal diagnosis.

Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

D. Goldstein, S. Petrovski, V. Aggarwal, 2017, American journal of medical genetics. Part A.

Genomic Imbalance in Products of Conception: Single-Nucleotide Polymorphism Chromosomal Microarray Analysis

M. Rabinowitz, Z. Demko, V. Aggarwal, 2014, Obstetrics and gynecology.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

Chromosomal microarray versus karyotyping for prenatal diagnosis

D. Ledbetter, L. Shaffer, Ankita Patel, 2013 .

Clinical Genomic Profiling of a Diverse Array of Oncology Specimens at a Large Academic Cancer Center: Identification of Targetable Variants and Experience with Reimbursement.

M. Mansukhani, V. Aggarwal, A. Sireci, 2017, The Journal of molecular diagnostics : JMD.

Clinical Genomic Pro fi ling of a Diverse Array of Oncology Specimens at a Large Academic Cancer

Anthony N. Sireci, Susan J. Hsiao, M. Mansukhani, 2016 .

Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient

D. Goldstein, A. Gharavi, V. Aggarwal, 2021, Annals of Internal Medicine.

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

V. Jobanputra, D. Goldstein, S. Petrovski, 2019, The Lancet.

Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease

D. Goldstein, V. Aggarwal, P. Shea, 2018, Cold Spring Harbor molecular case studies.

Diverse genetic causes of polymicrogyria with epilepsy

I. Scheffer, H. Mefford, E. Eichler, 2021, Epilepsia.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Magalie S Leduc, D. Goldstein, E. van Binsbergen, 2021, Epilepsia.

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Caitlin V. Miller, B. D. de Vries, D. Nickerson, 2020, HGG advances.

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

D. Goldstein, K. Roche, J. Baptista, 2021, Genetics in Medicine.

Glut1 deficiency syndrome and erythrocyte glucose uptake assay

Ying Wei, V. Aggarwal, B. Levy, 2011, Annals of neurology.

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2021, Human mutation.

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.

Joe C. Adams, B. Morrow, J. Epstein, 2004, Human molecular genetics.

PIG3: a novel link between oxidative stress and DNA damage response in cancer.

V. Gorgoulis, A. Kotsinas, V. Aggarwal, 2012, Cancer letters.

Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.

Sri V. V. Deevi, D. Goldstein, C. Granger, 2020, JAMA cardiology.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

G. Carvill, I. Scheffer, H. Mefford, 2022, Neurology.

Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

V. Aggarwal, K. Anyane-Yeboa, L. Northrop, 2014, Journal of Clinical Immunology.

Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia

D. Goldstein, E. Heinzen, V. Aggarwal, 2020, Journal of Human Genetics.

SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot

S. South, V. Aggarwal, Mallory R. Sdano, 2014, American journal of medical genetics. Part A.

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

V. Jobanputra, V. D’Agati, S. Zacharoulis, 2022, Kidney international reports.

148: Increased nuchal translucency and normal karyotype: value of additional testing

V. Jobanputra, S. Bale, V. Aggarwal, 2014 .

Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.

Christie M. Buchovecky, R. Recker, Hua Zhou, 2021, Bone.

Investigation into the genetics of fetal congenital lymphatic anomalies

Joshua E. Motelow, J. Motelow, V. Aggarwal, 2023, Prenatal diagnosis.

Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia

D. Goldstein, E. Heinzen, V. Aggarwal, 2020, Journal of Human Genetics.

Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

V. Aggarwal, P. Nagy, K. Anyane-Yeboa, 2014, Journal of Clinical Immunology.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2023, American journal of human genetics.

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

Ryan L. Collins, Stephan J Sanders, D. MacArthur, 2020 .

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.