V. Sybert

发表

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

R. Pagon, V. Riccardi, L. Kayes, 2004, Human Genetics.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Cardiovascular outcomes of pregnancy in Turner syndrome

J. Roos‐Hesselink, V. Sybert, C. Broberg, 2020, Heart.

medical progress Turner ’ s Syndrome

V. Sybert, E. McCauley, 2022 .

The genetic basis of Cowden’s syndrome: three novel mutations in PTEN/MMAC1/TEP1

R. Sutphen, H. Tsou, V. Sybert, 1998, Human Genetics.

Postnatal outcomes of prenatally diagnosed 45,X/46,XX

M. Tokita, V. Sybert, 2016, American journal of medical genetics. Part A.

Growth Characteristics of Children With Ectodermal Dysplasia Syndromes

V. Sybert, J. K. Fraley, K. Motil, 2005, Pediatrics.

Molecular genetics in pediatric dermatology.

V. Sybert, M. Parisi, 2000, Current opinion in pediatrics.

Ventral Midline Blanching in the Setting of Segmental Infantile Hemangiomas: Clinical Observations and Pathogenetic Implications

V. Sybert, D. Siegel, I. Frieden, 2015, Pediatric dermatology.

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

V. Sybert, D. Koeberl, B. McGillivray, 1995, American journal of human genetics.

Idiopathic extrahepatic biliary atresia: recurrence in sibs in two families.

J. Opitz, M. Cunningham, V. Sybert, 1988, American journal of medical genetics.

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex

V. Sybert, M. Parisi, A. Mitchell, 2003, Genetics in Medicine.

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex.

V. Sybert, M. Parisi, A. Mitchell, 2003 .

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

S. Bale, J. Uitto, G. Richard, 2003, The Journal of investigative dermatology.

Subject Index Vol. 57, 2002

W. Hop, S. Asa, Z. Hochberg, 2002, Hormone Research in Paediatrics.

Lymphedema as a Postulated Cause of Cutis Verticis Gyrata in Turner Syndrome

P. Fernhoff, V. Sybert, M. Spraker, 1998, Pediatric dermatology.

Prevalence of hypopigmented macules in a healthy population.

R. Pagon, V. Sybert, S. Vanderhooft, 1996, The Journal of pediatrics.

Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.

E. Wijsman, R. Livingston, K. Stephens, 1995, American journal of human genetics.

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

L. Hudgins, C. Eng, K. Leppig, 2001, Journal of Medical Genetics.

Adult height in Turner syndrome with and without androgen therapy.

V. Sybert, 1984, The Journal of pediatrics.

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

K. Stephens, M. Weaver, V. Sybert, 1999, American journal of human genetics.

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

R. Vossen, K. Grzeschik, J. D. den Dunnen, 2010, Human mutation.

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.

K. Stephens, P. Ehrlich, M. Weaver, 1997, The Journal of investigative dermatology.

A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.

K. Stephens, P. Ehrlich, V. Sybert, 1995, The Journal of investigative dermatology.

Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.

R. Livingston, K. Stephens, V. Sybert, 2001, The Journal of investigative dermatology.

Congenital nevi: the controversy rages on.

V. Sybert, 1986, Archives of dermatology.

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

A. Clarke, M. Koster, H. Schneider, 2019, American journal of medical genetics. Part A.

Life as We Know It: A Father, a Family, and an Exceptional Child

V. Sybert, 1997 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature.

V. Sybert, J. Waldhausen, L. Smith, 1999, Archives of dermatology.

Mosaicism in cutaneous pigmentation

V. Sybert, V. Lombillo, 2005, Current opinion in pediatrics.

Prenatal Diagnosis and Genetic Screening for Epidermolysis Bullosa

K. Holbrook, V. Sybert, 1992 .

Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules.

K. Holbrook, V. Sybert, P. Fleckman, 1990, The Journal of investigative dermatology.

Mosaicism in Genetic Skin Disorders

V. Sybert, D. Siegel, 2006, Pediatric dermatology.

Principles of genetics in the molecular era. A primer for dermatologists.

V. Sybert, 1993, Archives of dermatology.

Hereditary woolly hair and keratosis pilaris.

V. Sybert, A. Chien, Mark C. Valentine, 2006, Journal of the American Academy of Dermatology.

Defective Integrin α6β4 Expression in the Skin of Patients With Junctional Epidermolysis Bullosa and Pyloric Atresia

W. Carter, V. Sybert, G. Lestringant, 1996 .

Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.

R. Pagon, V. Sybert, C. Bradley, 1990, The Journal of pediatrics.

Pseudotumour cerebri and the Turner syndrome.

T. Bird, V. Sybert, D. Salk, 1985, Journal of neurology, neurosurgery, and psychiatry.

Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal.

K. Holbrook, V. Sybert, P. Fleckman, 1987, The Journal of investigative dermatology.

Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa.

V. Sybert, L. Smith, 1990, The Journal of investigative dermatology.

Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study.

K. Holbrook, V. Sybert, B. Dale, 1988, Journal of the American Academy of Dermatology.

Cutaneous and extracutaneous neutrophilic infiltrates (Sweet syndrome) in three patients with Fanconi anemia.

F. Baron, V. Sybert, R. Andrews, 1989, The Journal of pediatrics.

International Research Symposium on Ankyloblepharon‐Ectodermal Defects‐Cleft Lip/Palate (AEC) Syndrome

Derek A. Ruths, F. McKeon, C. Missero, 2009, American journal of medical genetics. Part A.

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

M. Weaver, M. Dorschner, K. Stephens, 2000, Human molecular genetics.

Folliculocystic and collagen hamartoma of tuberous sclerosis complex.

C. Bodemer, R. Happle, V. Sybert, 2012, Journal of the American Academy of Dermatology.

Cimetidine therapy for multiple viral warts in children.

V. Sybert, S. Vanderhooft, J. S. Francis, 1996, Journal of the American Academy of Dermatology.

Pearls from Medical Genetics Clinic

V. Sybert, Laura C. Swanson, 2013, Current Dermatology Reports.

Hypohidrotic Ectodermal Dysplasia: Argument Against an Autosomal Recessive Form Clinically Indistinguishable from X‐Linked Hypohidrotic Ectodermal Dysplasia (Christ‐Siemens‐Touraine Syndrome)

V. Sybert, 1989, Pediatric dermatology.

Dermatologic findings of ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome

V. Sybert, E. Siegfried, R. Scher, 2009, American journal of medical genetics. Part A.

Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules.

K. Holbrook, V. Sybert, B. Dale, 1985, The Journal of investigative dermatology.

Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.

G. Richard, V. Sybert, P. Ratajczak, 2004, The Journal of investigative dermatology.

Genetic Skin Disorders

V. Sybert, 2010 .

Aplasia Cutis Congenita: A Report of 12 New Families and Review of the Literature

V. Sybert, 1985, Pediatric dermatology.

Turner's syndrome.

V. Sybert, Elizabeth McCauley, E. McCauley, 1996, The New England journal of medicine.

Early diagnosis in the ectodermal dysplasias.

V. Sybert, 1988, Birth defects original article series.

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

D. Kelsell, E. Sprecher, C. Mein, 2005, American journal of human genetics.

Is cyproheptadine effective in the treatment of subjects with epidermolysis bullosa simplex-Dowling-Meara?

W. Neufeld-Kaiser, V. Sybert, 1997, Archives of dermatology.

Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein.

V. Sybert, L. Smith, C. Dolan, 1993, American journal of medical genetics.

Outcome of CPS referral for sexual abuse in children with condylomata acuminata

V. Sybert, K. Feldman, J. Neville, 1994 .

Prenatal diagnosis and screening.

K. Holbrook, V. Sybert, 1987, Dermatologic clinics.

Metastatic malignant melanoma presenting as pancytopenia in a three‐year‐old boy

R. Sze, D. Hawkins, V. Sybert, 2005, Pediatric blood & cancer.

Six children with malignant melanoma.

V. Sybert, 1991, Journal of the American Academy of Dermatology.

Hypomelanosis of Ito in a girl with plexus papilloma and transloction (X;17)

R. Pagon, V. Sybert, 1994, Human Genetics.

Hypomelanosis of Ito: a description, not a diagnosis.

V. Sybert, 1994, The Journal of investigative dermatology.

Hypomelanosis of Ito

V. Sybert, 1990, Pediatric dermatology.

Quantitative analysis of sex-chromosome mosaicism with X-Y DNA probes.

C. Disteche, H. Saal, V. Sybert, 1986, American journal of human genetics.

Small deletions of the short arm of the Y chromosome in 46,XY females.

D. Page, C. Disteche, J. Graham, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

V. Sybert, 2002, Journal of medical genetics.

Two human X-autosome translocations identified by autoradiography and fluorescence.

V. Sybert, M. Cohen, C. Lin, 1972, American journal of human genetics.

Congenital Monocytic Leukemia: Report of a Case with Cutaneous Involvement, and Review of the Literature

V. Sybert, D. Benjamin, J. S. Francis, 1989, Pediatric dermatology.

Holt‐Oram syndrome: penetrance of the gene and lack of maternal effect

V. Sybert, I. Gladstone, Igor Gladstone, 1982, Clinical genetics.

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

S. Schwartz, A. Zinn, V. Tonk, 1998, American journal of human genetics.

Evaluation of a protocol for post-mortem examination of stillbirths.

Z. Brown, V. Sybert, W. J. Chen, 1983, The New England journal of medicine.

Unsuspected trisomy 18: a case for an examination protocol in stillborn infants.

V. Sybert, T. Benedetti, S. B. Cassidy, 1981, American Journal of Obstetrics and Gynecology.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Julie C. Sapp, L. Biesecker, J. Johnston, 2015, American journal of human genetics.

Phenotype and X inactivation in 45,X/46,X,r(X) cases

C. Disteche, K. Leppig, V. Sybert, 2004, American journal of medical genetics. Part A.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance.

V. Sybert, C. Koiffmann, A. Wajntal, 1988 .

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

LYMPHOCYTE CAPPING AND CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY

V. Sybert, R. Harris, M. Sands, 1979, The Lancet.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

M. Bamshad, P. Byers, A. Stergachis, 2023, bioRxiv.

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

V. Sybert, M. Frydman, J. Zonana, 1997, American journal of human genetics.

Cardiovascular Malformations and Complications in Turner Syndrome

V. Sybert, 1998, Pediatrics.

Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity

V. Sybert, P. Kulin, 1986, Pediatric dermatology.

Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.

V. Sybert, E. Siegfried, A. Bree, 2005, Archives of dermatology.

INHERITANCE OF TUBEROUS SCLEROSIS

V. Sybert, J. Hall, 1979, The Lancet.

Rapp-Hodgkin ectodermal dysplasia.

V. Sybert, H. W. Schroeder, 1987, The Journal of pediatrics.

Severe Skin Erosions and Scalp Infections in AEC Syndrome

V. Sybert, S. Vanderhooft, M. Stephan, 1993, Pediatric dermatology.

Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update

A. Clarke, M. Koster, H. Schneider, 2022, Genes.

Association of annular pancreas and duodenal obstruction – evidence for Mendelian inheritance?

V. Sybert, S. Hendricks, Virginia P. Sybert, 1991, Clinical genetics.

Understanding Aneuploidy

V. Sybert, D. Siegel, Virginia P. Sybert, 2005, Pediatric dermatology.

Psychosocial and sexual functioning in women with Turner syndrome

V. Sybert, E. McCauley, Katerina Pavlidis, 1995, Clinical genetics.

Psychosocial adjustment of adult women with Turner syndrome

V. Sybert, E. McCauley, A. Ehrhardt, 1986 .

Social and behavioral development of girls and women with Turner syndrome

V. Sybert, E. McCauley, 2006 .

Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia.

W. Carter, V. Sybert, G. Lestringant, 1996, The Journal of investigative dermatology.

Psychosocial adjustment of adult women with Turner syndrome.

V. Sybert, E. McCauley, A. Ehrhardt, 1987, Clinical genetics.

Growth Failure in Early Life: An Important Manifestation of Turner Syndrome

V. Sybert, P. Stewart, L. Sävendahl, 2002, Hormone Research in Paediatrics.

Mosaicism for ring 19: a case report

V. Sybert, D. Salk, C. Bradley, 1988, Clinical genetics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

A New Variant of Trichothiodystrophy with Recurrent Infections, Failure to Thrive, and Death

V. Sybert, K. A. Meckler, James H. Petrin, 1998, Pediatric dermatology.

Pheochromocytomas in von Hippel-Lindau disease.

V. Sybert, 1978, AJR. American journal of roentgenology.

RENAL INVOLVEMENT IN HEREDITARY MULTIPLE OSTEOLYSIS

A. Motulsky, V. Sybert, 1979, The Lancet.

Controversy in genetic disorders.

V. Sybert, 1981, Archives of dermatology.

Proceedings of the 15th Annual Meeting of the Society for Pediatric Dermatology

B. Cohen, V. Sybert, J. Rasmussen, 1991 .

Genetic counseling in epidermolysis bullosa.

V. Sybert, 2010, Dermatologic clinics.

A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.

K. Stephens, V. Sybert, 1993, The Journal of investigative dermatology.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

The National Epidermolysis Bullosa Registry basic demographic characteristics of a prospective multicenter project

R. Stern, E. Bauer, V. Sybert, 1994 .

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Lymphocyte capping in carriers of Duchenne muscular dystrophy.

V. Sybert, M. Kadin, K. N. Setran, 1979, The New England journal of medicine.

Letter to the EditorLetter to the Editor

V. Sybert, K. Stephens, 1994 .

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

M. Bamshad, P. Byers, A. Stergachis, 2023, Annals of clinical and translational neurology.

Prenatal diagnosis of severe dermatologic diseases.

K. Holbrook, V. Sybert, M. Levy, 1992, Advances in dermatology.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

ATM mutations in Finnish breast cancer patients

A. Børresen-Dale, R. Winqvist, Z. Talebizadeh, 2002, Journal of medical genetics.

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

V. Sybert, D. Koeberl, B. McGillivray, 1995, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry.

E. Bauer, K. Holbrook, R. Pearson, 1991, Journal of the American Academy of Dermatology.

Turner's syndrome.

V. Sybert, E. McCauley, 1996, The New England journal of medicine.

Measurement of body fat in Turner syndrome

V. Sybert, C. Trahms, Juan Antonio Delgado, 1986, Clinical genetics.

Risk of skin cancers and inherited epidermolysis bullosa (EB) — Determination of differences across major EB subtypes. As assessed by lifetable analysis technique JQ

R. Stern, E. Bauer, V. Sybert, 1994 .

Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance.

V. Sybert, 1989, American journal of medical genetics.

Lymphatic, tooth and skin manifestations in Turner syndrome

V. Sybert, D. F. Gunther, 2006 .

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant.

K. Holbrook, V. Sybert, R. Sagebiel, 1983, The Journal of investigative dermatology.

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

A. Clarke, M. Koster, H. Schneider, 2019, American journal of medical genetics. Part A.

Postnatal outcomes of prenatally diagnosed 45,X/46,XX

M. Tokita, V. Sybert, 2016, American journal of medical genetics. Part A.