A. Abhyankar

发表

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer

V. Jobanputra, Anne-Katrin Emde, K. Wrzeszczynski, 2018, The Journal of molecular diagnostics : JMD.

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency

J. Casanova, P. Stenson, D. Cooper, 2018, Front. Immunol..

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

A. Plebani, C. Picard, A. Abhyankar, 2013, Science.

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Dona M. Kanavy, Shannon M. McNulty, Tamara S. Roman, 2020, American journal of human genetics.

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.

David A. Williams, J. Casanova, C. Picard, 2012, The Journal of clinical investigation.

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

J. Casanova, A. Šedivá, J. Litzman, 2013, Journal of Medical Genetics.

Disease variants in genomes of 44 centenarians

Vladimir Vacic, Anne-Katrin Emde, Jan Freudenberg, 2014, Molecular genetics & genomic medicine.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Arnold Munnich, Patrick Nitschke, Alice Goldenberg, 2012, American journal of human genetics.

A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

A. Munnich, J. Casanova, A. Abhyankar, 2014, Human mutation.

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Evin M. Padhi, Jeffrey K. Ng, D. Dickel, 2020, bioRxiv.

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

V. Vacic, Wentian Li, R. Darnell, 2016, Human molecular genetics.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

D. Chaussabel, J. Casanova, C. Picard, 2013, Human molecular genetics.

Dominant‐negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

J. Casanova, A. Abhyankar, M. Ohtsubo, 2012, Human mutation.

Simvastatin maintains steady patterns of GFR and improves AER and expression of slit diaphragm proteins in type II diabetes.

G. Morgia, A. Abhyankar, H. Luthman, 2006, Kidney international.

A Dominant Mutation in Hu man RAD 51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination Graphical

S. Gabriel, C. Sougnez, J. Wagner, 2015 .

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

A novel mutation in the POLE2 gene causing combined immunodeficiency.

J. Casanova, L. Notarangelo, F. Frugoni, 2016, The Journal of allergy and clinical immunology.

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

J. Casanova, A. Bousfiha, F. Ailal, 2013, PloS one.

Altered transcapillary escape of albumin and microalbuminuria reflects two different pathogenetic mechanisms.

G. Morgia, A. Abhyankar, H. Luthman, 2005, Diabetes.

Differential burden of rare protein truncating variants in Alzheimer’s disease patients compared to centenarians

Darnell, V. Vacic, Wentian Li, 2016 .

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

A. Fischer, J. Casanova, C. Picard, 2012, PloS one.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

A. Fischer, C. Bodemer, J. Casanova, 2011, The Journal of experimental medicine.

Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency

J. Casanova, C. Rice, A. Abhyankar, 2012, Science.

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

G. Daley, J. Casanova, L. Notarangelo, 2012, Nature.

Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

V. Pascual, D. Chaussabel, J. Casanova, 2012, Nature Immunology.

The human gene connectome as a map of short cuts for morbid allele discovery

Guillaume Vogt, Dror Fried, Lluis Quintana-Murci, 2013, Proceedings of the National Academy of Sciences.

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

L. Kaczmarek, A. Munnich, J. Casanova, 2012, Nature Genetics.

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

J. Casanova, Scott B. Dewell, C. Picard, 2010, The Journal of experimental medicine.

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Evin M. Padhi, Jeffrey K. Ng, D. Dickel, 2021, Human genomics.

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

J. Casanova, E. Cesarman, C. Picard, 2013, The Journal of experimental medicine.

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.

S. Gabriel, C. Sougnez, J. Wagner, 2015, Molecular cell.

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.

V. Jobanputra, K. Wrzeszczynski, A. Abhyankar, 2020, Journal of Molecular Diagnostics.

β-Catenin is involved in alterations in mitochondrial activity in non-transformed intestinal epithelial and colon cancer cells

A. Abhyankar, A. Sjölander, Y. Yudina, 2009, British Journal of Cancer.

Mitochondrial and chromosomal genomics in type 2 diabetes

A. Abhyankar, 2009 .

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

A. Munnich, J. Casanova, J. Tolmie, 2011, Nature Genetics.

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

S. Gabriel, O. Elemento, C. Sougnez, 2015, Cell reports.

A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

J. Casanova, A. Abhyankar, L. Abel, 2012, PloS one.

Whole-exome-sequencing-based discovery of human FADD deficiency.

F. Rieux-Laucat, J. Casanova, A. Abhyankar, 2010, American journal of human genetics.

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Siobhan M. Dolan, V. Jobanputra, T. Bloom, 2020, Trials.

HGCS : an online tool for prioritizing disease-causing gene variants by biological distance Itan

Lluis Quintana-Murci, Patrick Nitschke, Yuval Itan, 2017 .

Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.

V. Jobanputra, A. Abhyankar, V. Felice, 2018, Methods in molecular biology.

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

D. Chaussabel, J. Casanova, M. White, 2012, The Journal of experimental medicine.

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

J. Casanova, A. Bousfiha, A. Abhyankar, 2016, Proceedings of the National Academy of Sciences.

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

D. Chaussabel, J. Casanova, C. Picard, 2017, Cell.

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

A. Abhyankar, A. Auerbach, A. Smogorzewska, 2019, bioRxiv.

Comparative Sequence Analysis of the Non-Protein-Coding Mitochondrial DNA of Inbred Rat Strains

A. Abhyankar, H. Luthman, Hee-Bok Park, 2009, PloS one.

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

V. Jobanputra, A. Abhyankar, M. Lamendola-Essel, 2017, Clinical case reports.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

V. Jobanputra, A. Abhyankar, B. Gelb, 2023, medRxiv.

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

V. Jobanputra, V. D’Agati, A. Abhyankar, 2023, Kidney international reports.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

V. Jobanputra, A. Abhyankar, B. Gelb, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Siobhan M. Dolan, V. Jobanputra, T. Bloom, 2021, Trials.

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

V. Jobanputra, A. Abhyankar, B. Gelb, 2023, Clinical genetics.

MetroNome — a visual data exploration platform for integrating human genotypic and phenotypic data across diseases

Christian Stolte, Toby Bloom, Kevin Shi, 2019 .

Increased renal arterial resistance predicts the course of renal function in type 2 diabetes with microalbuminuria.

G. Morgia, A. Abhyankar, F. Piarulli, 2006, Diabetes.

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

J. Casanova, Scott B. Dewell, C. Picard, 2010, The Journal of experimental medicine.

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

A. Plebani, C. Picard, A. Abhyankar, 2013, Science.

Whole-exome-sequencing-based discovery of human FADD deficiency.

F. Rieux-Laucat, J. Casanova, A. Abhyankar, 2010, American journal of human genetics.

Comparative Sequence Analysis of the Non-Protein-Coding Mitochondrial DNA of Inbred Rat Strains

A. Abhyankar, H. Luthman, Hee-Bok Park, 2009, PloS one.

Impaired Intrinsic Immunity to Hsv-1 in Human Ipsc-derived Tlr3- Deficient Cns Cells

A. Abhyankar, Michael J. Ciancanelli, C. Link, 2022 .

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

J. Casanova, A. Šedivá, J. Litzman, 2013, Journal of Medical Genetics.

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

J. Casanova, Scott B. Dewell, C. Picard, 2010, The Journal of experimental medicine.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

D. Chaussabel, J. Casanova, C. Picard, 2017, Cell.

Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

V. Jobanputra, A. Abhyankar, S. Phadke, 2023, Circulation. Genomic and precision medicine.

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

J. Casanova, A. Abhyankar, Shen-Ying Zhang, 2014, BMC Genomics.

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

S. Gabriel, O. Elemento, C. Sougnez, 2015, Cell reports.