D. Everman

发表

Coding exons function as tissue-specific enhancers of nearby genes

G. Bejerano, C. Schwartz, A. Wenger, 2012, Genome research.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

C. T. Morgan, A. Munnich, S. Antonarakis, 2003, Human molecular genetics.

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

C. Schwartz, S. Twigg, A. Wilkie, 2007, Human Genetics.

RIT1 oncoproteins escape LZTR1-mediated proteolysis

F. McCormick, P. Castel, D. Everman, 2019, Science.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Lisa T. Emrick, Julie C. Sapp, J. Rosenfeld, 2017, Genetics in Medicine.

LADD syndrome is caused by FGF10 mutations

J. Milunsky, D. Everman, G. Zhao, 2006, Clinical genetics.

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update

F. Gurrieri, D. Everman, 2013, American journal of medical genetics. Part A.

Clinical utility of the X‐chromosome array

M. Bellomo, R. Stevenson, M. Lyons, 2013, American Journal of Medical Genetics. Part A.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

J. Rosenfeld, R. Pfundt, E. Eichler, 2020, Human mutation.

Evidence for superoxide formation during hepatic metabolism of tamoxifen.

D. Everman, M. Turner, C. E. Fields, 1991, Biochemical pharmacology.

Benign essential tremor.

A. L. Wong, S. Priori, A. Burroughs, 2019, Lancet.

The FU gene and its possible protein isoforms

M. Nöthen, C. Schwartz, R. Betz, 2004, BMC Genomics.

Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families

J. Graham, D. Rimoin, M. Warman, 2002, American journal of medical genetics. Part A.

The mutational spectrum of brachydactyly type C.

L. Singh, J. Graham, W. Newman, 2002, American journal of medical genetics.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

M. Tarnopolsky, K. Boycott, B. Kamien, 2017, Orphanet Journal of Rare Diseases.

Detection of free radicals during the cellular metabolism of adriamycin.

D. Everman, M. Turner, S. P. Ellington, 1990, Free radical biology & medicine.

Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome

E. Zackai, J. Fish, R. Person, 2017, Clinical genetics.

Genotype and Phenotype in 12 additional individuals with SATB 2-Associated Syndrome

E. Zackai, J. Fish, R. Person, 2017 .

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

S. Dimauro, L. Lagae, P. Jayakar, 2010, Archives of neurology.

Receptor-mediated adhesive and anti-adhesive functions of chondroitin sulfate proteoglycan preparations from embryonic chicken brain.

S. Hoffman, D. Everman, H. Ernst, 1995, Journal of cell science.

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome

S. Skinner, R. Louie, M. Friez, 2022, American journal of medical genetics. Part A.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Jamie K Teer, Shlomo Wientroub, Leslie G Biesecker, 2011, The New England journal of medicine.

Bipolar disorder associated with Klinefelter's syndrome and other chromosomal abnormalities.

A. Stoudemire, D. Everman, 1994, Psychosomatics.

Respiratory failure requiring extracorporeal membrane oxygenation after sodium phosphate enema intoxication

D. Everman, B. Jacobs, M. Nitu, 2003, European Journal of Pediatrics.

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

M. Bamshad, C. Skinner, K. Artinger, 2022, medRxiv.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

D. Kelsell, H. Kayserili, C. Mein, 2011, Archives of dermatology.

The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function

B. V. van Bon, S. Kushner, S. Küry, 2018, Human mutation.

Autosomal dominant inheritance of infantile myofibromatosis

E. Zackai, S. Saitta, D. McDonald-McGinn, 2004, American journal of medical genetics. Part A.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Yiran Guo, Dong Li, Hakon Hakonarson, 2013, American journal of human genetics.

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non‐syndromic split‐hand/foot malformation

C. T. Morgan, S. Antonarakis, R. Lyle, 2006, American journal of medical genetics. Part A.

P63 mutations are not a major cause of non-syndromic split hand/foot malformation

C. T. Morgan, R. Stevenson, C. Schwartz, 2003, Journal of medical genetics.

Serum α-fetoprotein levels in Beckwith-Wiedemann syndrome ☆ ☆☆

R. Weksberg, C. Shuman, M. O'riordan, 2000 .

A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes

J. Bonifacino, D. Everman, Julie R. Jones, 2018, bioRxiv.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

J. Gusella, C. Morton, M. Talkowski, 2014, Molecular Psychiatry.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

S. Scherer, N. Brown, R. Yuen, 2019, Brain : a journal of neurology.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice

E. Tsvetkov, G. Konopka, S. Skinner, 2020, Biological Psychiatry.

MEF2C hypofunction in neuronal and neuroimmune populations cooperate to produce MEF2C haploinsufficiency syndrome-like behaviors in mice

E. Tsvetkov, G. Konopka, S. Skinner, 2019, bioRxiv.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

W. Kaufmann, S. Skinner, D. Everman, 2016, Expert opinion on orphan drugs.

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.

Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome.

R. Weksberg, C. Shuman, M. O'riordan, 2000, The Journal of pediatrics.

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

S. Bale, A. Telegrafi, Brooke T. Smith, 2016, American journal of medical genetics. Part A.

Structural model of PORCN illuminates disease-associated variants and drug binding sites.

D. Virshup, T. Keller, D. Everman, 2021, Journal of cell science.

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

A. Sharp, S. Antonarakis, F. Béna, 2012, Journal of Medical Genetics.

Split‐hand/split‐foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region

U. C. Patel, S. Antonarakis, R. Lyle, 2006, American journal of medical genetics. Part A.

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Karl K. Murphy, C. Schwartz, N. Ahituv, 2012, Human molecular genetics.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

Redefining the Etiologic Landscape of Cerebellar Malformations.

I. Krantz, D. Nickerson, G. Seelig, 2019, American journal of human genetics.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Genetics of childhood disorders: XII. Genomic imprinting: breaking the rules.

D. Everman, S. Cassidy, D B Everman, 2000, Journal of the American Academy of Child and Adolescent Psychiatry.

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

C. Schwartz, K. Boycott, D. Bulman, 2011, European Journal of Human Genetics.

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

R. Pfundt, S. Skinner, R. Louie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

J. Argente, N. Rezaei, M. Zenker, 2017, Molecular Genetics & Genomic Medicine.

Expanding the Neurologic Phenotype of Oculodentodigital Dysplasia in a 4-Generation Hispanic Family

D. Everman, K. Holden, Maria del Carmen Montoya, 2008, Journal of child neurology.

Structural model of PORCN illuminates disease-associated variants and drug binding sites

D. Virshup, T. Keller, D. Everman, 2021, bioRxiv.

Microcephaly and Congenital Grouped Pigmentation of the Retinal Pigment Epithelium Associated with Submicroscopic Deletions of 13q33.3-q34 and 11p15.4

Brooke T. Smith, E. Traboulsi, D. Everman, 2009, Ophthalmic genetics.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

R. Redon, V. Narayanan, A. Toutain, 2022, Human molecular genetics.

Hypermobility syndrome.

D. Everman, N. Robin, Nathaniel H. Robin, 1998, Pediatrics in review.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, Genetics in Medicine.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

C. T. Morgan, Ravinesh A. Kumar, E. Simpson, 2007, BMC Medical Genetics.

Bernard-Soulier syndrome.

A. L. Wong, S. Priori, R. Hennekam, 1989, Bailliere's clinical haematology.

Functional characterization of antiadhesion molecules.

S. Hoffman, J. Loike, D. Everman, 1994, Perspectives on developmental neurobiology.