Z. Coban-Akdemir

发表

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2018, American journal of human genetics.

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

C. Shaw, J. Lupski, R. Gibbs, 2020, bioRxiv.

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome Medicine.

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

H. Peeters, J. Lupski, S. Jhangiani, 2018, American journal of medical genetics. Part A.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

N. Guex, A. Reymond, C. Shaw, 2016, Genome Medicine.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Joshua L. Deignan, D. Geschwind, S. Nelson, 2019, Human mutation.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

P. Stankiewicz, P. Szafranski, J. Lupski, 2016, American journal of medical genetics. Part A.

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

J. Lupski, S. Jhangiani, M. Bamshad, 2022, Human mutation.

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome

J. Lupski, J. Posey, Z. Coban-Akdemir, 2022, American journal of medical genetics. Part A.

De novo mutation and identity-by-descent drive disease haplotypes, biallelic traits and multilocus pathogenic variation

C. Shaw, J. Lupski, R. Gibbs, 2022, bioRxiv.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

J. Lupski, R. Gibbs, D. Muzny, 2022, Human mutation.

Mutations in PI3K110&dgr; cause impaired natural killer cell function partially rescued by rapamycin treatment

Ivan K. Chinn, J. Lupski, R. Gibbs, 2018, The Journal of allergy and clinical immunology.

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.

J. Lupski, S. Jhangiani, J. Orange, 2020, Journal of Allergy and Clinical Immunology: In Practice.

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Adam C Gunning, E. Zackai, H. Hakonarson, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

J. Lupski, R. Gibbs, S. Jhangiani, 2022, HGG advances.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

J. Rosenfeld, M. Reijnders, J. Lupski, 2017, American journal of human genetics.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Lisa T. Emrick, Ivan K. Chinn, J. Rosenfeld, 2018, American journal of human genetics.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

J. Rosenfeld, J. Lupski, J. Belmont, 2017, Genome Medicine.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of human genetics.

Phenotype expansion and development in Kosaki overgrowth syndrome

J. Lupski, D. Muzny, S. Jhangiani, 2018, Clinical genetics.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

J. Rosenfeld, J. Lupski, R. Gibbs, 2022, American journal of human genetics.

REPORT Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

Feng Zhang, S. Jhangiani, Zhihong Wu, 2022 .

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

J. Lupski, R. Gibbs, D. Muzny, 2022, Genome Medicine.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

J. Lupski, Tadahiro Mitani, D. Calame, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

Ivan K. Chinn, C. Shaw, J. Lupski, 2018, American journal of human genetics.

Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, The Journal of allergy and clinical immunology.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Ivan K. Chinn, J. Lupski, R. Gibbs, 2019, The Journal of experimental medicine.

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Andrew J. Oler, Ivan K. Chinn, J. Lupski, 2020, Science.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Ellen F. Macnamara, J. Lupski, E. Puffenberger, 2018, American journal of human genetics.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

N. Guex, A. Reymond, C. Shaw, 2016, Genome Medicine.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

J. Lupski, C. Walsh, S. Jhangiani, 2019, American journal of human genetics.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, HGG advances.

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2020, American journal of medical genetics. Part A.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, Human Genetics.

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, Journal of dental research.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

J. Rosenfeld, W. Chung, J. Lupski, 2016, American journal of human genetics.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of human genetics.

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, Frontiers in Pediatrics.

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

P. Stankiewicz, A. Breman, C. Shaw, 2018, Genome research.

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

Lisa T. Emrick, J. Rosenfeld, P. Stankiewicz, 2017, Genome Medicine.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Exome variant discrepancies due to reference genome differences.

Michael M. Khayat, J. Lupski, R. Gibbs, 2021, American journal of human genetics.

Whole-Exome Sequencing in Familial Parkinson Disease.

J. Lupski, R. Gibbs, R. Myers, 2016, JAMA neurology.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2018, Blood.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

J. Lupski, R. Gibbs, D. Muzny, 2023, American journal of medical genetics. Part A.

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

J. Lupski, S. Jhangiani, K. Doheny, 2021, Orphanet Journal of Rare Diseases.

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Annals of clinical and translational neurology.

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

J. Lupski, R. Gibbs, S. Jhangiani, 2018, Molecular genetics and metabolism.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Genetics in Medicine.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency.

J. Lupski, F. Baas, R. Badolato, 2020, Blood.

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

Ivan K. Chinn, J. Lupski, J. Orange, 2017, Front. Immunol..

aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants

Z. Coban-Akdemir, Dennis Kostka, Qianqian Liang, 2023, bioRxiv.

Risk of sudden cardiac death in EXOSC5‐related disease

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of medical genetics. Part A.

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

J. Lupski, R. Gibbs, D. Muzny, 2023, HGG advances.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

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

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

Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

Andrew J. Oler, Ivan K. Chinn, J. Lupski, 2019, bioRxiv.

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

Ivan K. Chinn, J. Lupski, S. Jhangiani, 2019, Front. Pediatr..

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

C. Shaw, J. Lupski, R. Gibbs, 2023, bioRxiv.

Whole-Exome Sequencing in Familial Parkinson Disease.

J. Lupski, R. Gibbs, R. Myers, 2016, JAMA neurology.

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

J. Lupski, S. Jhangiani, D. Calame, 2023, Nucleic acids research.

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2020, The Journal of clinical investigation.

find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences

Caitlin P. McHugh, M. Fornage, A. Reiner, 2020, bioRxiv.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.