J. Mulvihill

John D Boice, Leslie L Robison, Preetha Rajaraman, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Graphs to estimate an individualized risk of breast cancer.

J Benichou, M H Gail, J J Mulvihill, 1996, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0).

J. Mulvihill, Jiyun Lee, Shibo Li, 2008, Cancer genetics and cytogenetics.

Noise Pollution: Neonatal Aspects

Robert W. Miller, R. Brent, J. Mulvihill, 1974, Pediatrics.

Investments in cancer genomics: who benefits and who decides.

M. W. Foster, R. Sharp, J. Mulvihill, 2006, American journal of public health.

Cancer genetics: inheritance of susceptibility to cancer in man.

J. Mulvihill, 1984, Science.

Special Scientific Advisors

Hiroshi Sasaki, John J. Mulvihill, Marianne Berwick, 2013 .

The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1.

J. Mulvihill, S. Carty, J. Amico, 1998, Surgery.

Assessing human germ‐cell mutagenesis in the Postgenome Era: A celebration of the legacy of William Lawson (Bill) Russell

J. S. Wassom, M. Shelby, J. Wassom, 2007, Environmental and molecular mutagenesis.

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay‐sachs disease gene carriers among Ashkenazic Jews

J. Mulvihill, C. Scriver, F. Kaplan, 1992, Genetic epidemiology.

Genetic linkage studies with neurofibromatosis: the question of heterogeneity.

M. Spence, S. Bale, V. Cortessis, 1987, Journal of medical genetics.

Duplication 15q as the sole anomaly in an acute promyelocytic leukemia patient without t(15;17).

J. Mulvihill, Shibo Li, J. Mcminn, 2002, Cancer genetics and cytogenetics.

Duplication 15q in a patient with t(8;21) acute myeloblastic leukemia (M2).

J. Mulvihill, Shibo Li, G. Kinasewitz, 2002, Cancer genetics and cytogenetics.

Spectrum of malignancy and premalignancy in Carney syndrome.

M. Gorin, J. Mulvihill, M. Korytkowski, 1997, American journal of medical genetics.

Genealogy of cancer in a family.

W. Blattner, J. Mulvihill, B. Lampkin, 1979, Journal of the American Medical Association (JAMA).

The concurrence of saethre‐chotzen syndrome and malignancy in a family with in vitro immune dysfunction

P. Levine, P. Howley, J. Mulvihill, 1984, Cancer.

Discussion: Genetics of multiple primary tumors. A clinical etiologic approach illustrated by three patients

J. Mulvihill, E. McKeen, Elisabeth A. McKeen, 1977, Cancer.

Prevention in familial breast cancer: counseling and prophylactic mastectomy.

J. Mulvihill, A. Safyer, J. K. Bening, 1982, Preventive medicine.

Quality assurance in medical and public health genetics services: A systematic review

Ann I. Norris, Ann F. Chou, J. Mulvihill, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Imagined Futures: Capturing the Benefits of Genome Sequencing for Society

E. Clayton, R. Chadwick, J. Mulvihill, 2013 .

Risk of cancer among children of cancer patients—a nationwide study in Finland

R. Sankila, J. Mulvihill, P. Lähteenmäki, 2010, International journal of cancer.

Dental x-rays and low birth weight Radioactive waste management

J. Boice, D. Green, M. Stovall, 2004 .

Ovarian failure and reproductive outcomes after childhood cancer treatment: results from the Childhood Cancer Survivor Study.

D. Green, M. Stovall, C. Sklar, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network

E. Silverman, J. Loscalzo, J. Mulvihill, 2019, American journal of medical genetics. Part A.

Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individuals

J. Mulvihill, Shibo Li, K. Casas, 2004, American journal of medical genetics. Part A.

Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms.

J. Mulvihill, S. Sørensen, A. Nielsen, 1986, The New England journal of medicine.

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.

The Human Genome and Epigenome

J. Mulvihill, K. Wierenga, C. Kerksick, 2010 .

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Pregnancy outcome in women with systemic lupus erythematosus treated with immunosuppressive drugs.

J. Mulvihill, T. Medsger, R. Ramsey‐Goldman, 1993, The Journal of rheumatology.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Cancer chemotherapeutic agents as human teratogens.

J. Mulvihill, Gregory R Medders, G. Hallford, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Host Factors in Human Carcinogenesis

J. Mulvihill, 1982 .

Single nucleotide polymorphism in prohibitin 3′untranslated region and breast-cancer susceptibility

J. Mulvihill, L. Thompson, E. Jupe, 2001, The Lancet.

Normal findings 52 years after in utero radiation exposure

A. Chakravarti, J. Mulvihill, J. Boice, 1991, The Lancet.

The genetics of hypertrophic cardiomyopathy.

B. Maron, J. Mulvihill, 1986, Annals of internal medicine.

Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis.

W. Rubinstein, J. Mulvihill, R. Hoffman, 1997, American journal of medical genetics.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

GONADOBLASTOMA IN DYSGENETIC GONADS WITH A Y CHROMOSOME

J. Mulvihill, RobertW. Miller, WandaM. Wade, 1975, The Lancet.

Nongonadal neoplasia in Turners syndrome

J. Fraumeni, J. Mulvihill, W. Wertelecki, 1970, Cancer.

X-linked hypogammaglobulinemia and isolated growth hormone deficiency.

T. Waldmann, S. Broder, J. Mulvihill, 1980, The New England journal of medicine.

Studies in a kindred with parathyroid carcinoma.

J. Norton, E. Friedman, M. Brandi, 1992, The Journal of clinical endocrinology and metabolism.

Rhabdomyosarcoma complicating multiple neurofibromatosis.

J. Mulvihill, E. Douglass, J. Bodurtha, 1978, The Journal of pediatrics.

Malignancy in neurofibromatosis.

J. Mulvihill, D. G. Hope, Hope Dg, 1985, Advances in neurology.

Effects of cigarette-smoking on the fetus and child.

Robert W. Miller, J. Mulvihill, A. Ebbin, 1976, Pediatrics.

Two common polymorphisms in the APO A‐IV coding gene: Their evolution and linkage disequilibrium

R. Hamman, R. Ferrell, J. Mulvihill, 1992, Genetic epidemiology.

National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health: August 24-26, 2009.

Robert A Hiatt, Gail P Jarvik, John J Mulvihill, 2009, NIH consensus and state-of-the-science statements.

Cancer in offspring of long‐term survivors of childhood and adolescent cancer

R. Connelly, J. Mulvihill, D. Austin, 1988 .

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

J. Mulvihill, Brendan H. Lee, D. Eyre, 2006, The New England journal of medicine.

Host factors in human lung tumors: an example of ecogenetics in oncology.

J. Mulvihill, 1976, Journal of the National Cancer Institute.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Pregnancy outcome following cancer chemotherapy.

J. Mulvihill, J. Ziegler, R. Young, 1980, The American journal of medicine.

Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).

J. Haines, M. Pericak-Vance, B. Korf, 1989, American journal of human genetics.

Possible genetic effects of cancer therapy, seen in surviving cancer patients' offspring.

J. Mulvihill, P. Oftedal, 1986, Progress in clinical and biological research.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

E. Haan, R. Markowitz, A. Guttmacher, 1997, American journal of human genetics.

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome.

J. Mulvihill, N. Nwokoro, John J. Mulvihill, 1997, American journal of medical genetics.

Plasma melatonin and the hormone-dependency of human breast cancer.

J. Mulvihill, L. Tamarkin, D. Danforth, 1985, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Familial breast cancer in black Americans

P. Levine, J. Mulvihill, P. Siraganian, 1987, Cancer.

A variant t(8;10;21) in a patient with pathological features mimicking atypical chronic myeloid leukemia.

J. Mulvihill, Jiyun Lee, Shibo Li, 2005, Cancer genetics and cytogenetics.

Trisomy 1q in a patient with severe aplastic anemia.

J. Mulvihill, Jiyun Lee, Shibo Li, 2006, Cancer Genetics and Cytogenetics.

Short communication Trisomy 1q in a patient with severe aplastic anemia

J. Mulvihill, Jiyun Lee, Shibo Li, 2006 .

Abstract 2756: Whole-exome sequencing reveals a novel germline variant in CEBPA-associated familial acute myeloid leukemia: 45-year follow-up of a large family

M. Yeager, B. Luke, J. Mulvihill, 2015 .

Cohort profile: life with neurofibromatosis 1 – the Danish NF1 cohort

J. Mulvihill, S. Dalton, P. Bidstrup, 2022, BMJ Open.

Clinical Ecogenetics of Human Cancer

J. Mulvihill, 1985 .

Sister chromatid exchanges and chromosomes in chronic myelogenous leukemia and cancer families

L. Pickle, M. Greene, J. Whang‐Peng, 1979, International journal of cancer.

The availability of insurance to long‐time survivors of childhood cancer

J. Mulvihill, G. E. Holmes, F. Holmes, 1986, Cancer.

Multiple childhood osteosarcomas in an american indian family with erythroid macrocytosis and skeletal anomalies

J. Whang‐Peng, H. Gralnick, J. Mulvihill, 1977, Cancer.

ATTEMPTED SUICIDE WITH PURIFIED AFLATOXIN

J. Mulvihill, R. Willis, J. Hoofnagle, 1980, The Lancet.

The Human Genome Organisation (HUGO) and the 2020 COVID-19 pandemic

Y. Joly, J. Mulvihill, Benjamin Capps, 2021, Human genomics.

Medical geneticists confront ethical dilemmas: cross-cultural comparisons among 18 nations.

J. Mulvihill, J. Fletcher, D. Wertz, 1990, American journal of human genetics.

Symposium on Linkage of von Recklinghausen Neurofibromatosis (NF1). Closing in on the gene for von Recklinghausen neurofibromatosis.

J. Mulvihill, D. Parry, 1987, Genomics.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Caffeine as teratogen and mutagen.

J. Mulvihill, 1973, Teratology.

Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype

C. Aston, J. Mulvihill, Shibo Li, 2017, American journal of medical genetics. Part A.

Familial respiratory tract cancer. Opportunities for research and prevention.

J. Mulvihill, T. Goffman, D. Hassinger, 1982, JAMA.

Postsurgical IQ and behavioral data on twenty patients with a history of childhood craniopharyngioma

B. Aarabi, J. Money, J. Mulvihill, 1977, Psychoneuroendocrinology.

Congenital heart disease in dogs: epidemiologic similarities to man.

J. Mulvihill, W. Priester, 1973, Teratology.

Congenital and genetic disease in domestic animals.

J. Mulvihill, 1972, Science.

Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study

C. Johansen, A. Duun-Henriksen, J. Mulvihill, 2021, American journal of medical genetics. Part A.

Sarcomas in a child and her father: an etiologic consultation.

J. Mulvihill, D. Parry, R. W. Miller, 1979, American journal of diseases of children.

Falling giants and the rise of gene editing: ethics, private interests and the public good

R. Chadwick, Y. Joly, J. Mulvihill, 2017, Human Genomics.

Surgical management of spinal cord compression from plexiform neurofibromas in patients with neurofibromatosis 1.

I. Pollack, J. Mulvihill, C. Fitz, 1998, Neurosurgery.

GREEN-TOBACCO SICKNESS

J. Mulvihill, W. Priester, 1975, The Lancet.

Chromosomal Abnormalities in Offspring of Young Cancer Survivors: A Population-Based Cohort Study in Denmark.

C. Johansen, M. Stovall, J. Mulvihill, 2018, Journal of the National Cancer Institute.

Fatal hypereosinophilia with chromosome 15q- in a patient with multiple primary and familial neoplasms.

T. Triche, J. Whang‐Peng, J. Mulvihill, 1983, Cancer genetics and cytogenetics.

Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease?

J. Mulvihill, S. Tisherman, G. Levey, 1993, Archives of internal medicine.

Chromosomal abnormalities among offspring of childhood-cancer survivors in Denmark: a population-based study.

J. Olsen, M. Stovall, J. Mulvihill, 2004, American journal of human genetics.

GENETIC EFFECTS OF RADIOTHERAPY FOR CHILDHOOD CANCER

J. Olsen, J. Boice, D. Green, 2003, Health physics.

Prospects of Cancer Control Through Genetics

J. Mulvihill, 1996 .

Clinical ecogenetics: cancer in families.

J. Mulvihill, 1985, The New England journal of medicine.

Hepatic adenoma in Fanconi anemia treated with oxymetholone.

J. Mulvihill, R. Ridolfi, M. Borzy, 1975, The Journal of pediatrics.

Genetics of human cancer

Robert W. Miller, J. Fraumeni, J. Mulvihill, 1977 .

Baseline and mutagen-induced sister-chromatid exchanges in cultures of human whole blood and purified fresh or frozen lymphocytes.

J. Mulvihill, S. Galloway, D. Parry, 1987, Mutation research.

Pregnancy outcome in cancer patients. Experience in a large cooperative group

J. Mulvihill, F. Rosner, E. McKeen, 1987 .

Standard Outline for Each Nation (2.1–2.19)

K. E. Tranøy, F. Salzano, L. Bolund, 1989 .

Why Dickinson Didn't Title

J. Mulvihill, 2009 .

Congenital anomalies in the children of cancer survivors: a report from the childhood cancer survivor study.

John D Boice, Leslie L Robison, John J Mulvihill, 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Early menopause in long-term survivors of cancer during adolescence

M. Gail, T. Fears, L. Strong, 1992 .

Genetic disease in the children of Danish survivors of childhood and adolescent cancer.

Yu Shyr, John D Boice, John J Mulvihill, 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Successful treatment of Candida meningitis with amphotericin B and 5-fluorocytosine in combination.

J. Mulvihill, P. Chesney, M. Marks, 1976, The Journal of pediatrics.

Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9

M. Greene, S. Bale, J. Mulvihill, 1992, Cell.

Localization of the gene for Cowden disease to chromosome 10q22–23

E. Mariman, D. Easton, R. Eeles, 1996, Nature Genetics.

NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update.

M. Kaiser-Kupfer, J. Mulvihill, D. Parry, 1990, Annals of internal medicine.

Cleft palate in domestic animals: epidemiologic features.

J. Mulvihill, W. Priester, C. G. Mulvihill, 1980, Teratology.

Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications.

J. Mulvihill, H. Andersson, D. Parry, 1995, American journal of medical genetics.

Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome.

S. Bale, J. Mulvihill, D. Parry, 1989, Cancer genetics and cytogenetics.

International Commission for Protection Against Environmental Mutagens and Carcinogens. ICPEMC publication No. 18. Review of the genotoxicity and carcinogenicity of antischistosomal drugs; is there a case for a study of mutation epidemiology? Report of a task group on mutagenic antischistosomals.

J. Mulvihill, P. Kramers, K. Mott, 1991, Mutation research.

Problems in diagnosing neurofibromatosis.

A. Knudson, T. Fitzpatrick, J. Mulvihill, 1981, Advances in neurology.

Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies.

J. Mulvihill, G. Shackelford, K. Taysi, 1980, Journal of medical genetics.

Benign familial hyperphosphatasemia.

J. Mulvihill, R. W. Miller, R. Mulivor, 1989, JAMA.

Individual differences in cancer susceptibility.

S. Thorgeirsson, J. Minna, C. Harris, 1980, Annals of internal medicine.

Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma.

J. Mulvihill, A. Safyer, D. Parry, 1978, Journal of medical genetics.

Cytogenetics in hereditary malignant melanoma and dysplastic nevus syndrome: is dysplastic nevus syndrome a chromosome instability disorder?

L. Pickle, M. Greene, J. Mulvihill, 1987, Cancer genetics and cytogenetics.

Craniofacial syndromes: no such thing as a single gene disease

J. Mulvihill, 1995, Nature Genetics.

Do bilineal pedigrees represent a problem for linkage analysis? basic principles and simulation results for single‐gene diseases with no heterogeneity

S. Hodge, J. Mulvihill, 1992, Genetic epidemiology.

Genome-Wide Association Study Identifies a Novel Locus Contributing to Type 2 Diabetes Susceptibility in Sikhs of Punjabi Origin From India

J. Danesh, M. McCarthy, P. Deloukas, 2013, Diabetes.

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.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

A cancer family syndrome in twenty-four kindreds.

W. Blattner, M. Tucker, J. Fraumeni, 1988, Cancer research.

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

P. Stankiewicz, J. Mulvihill, Jiyun Lee, 2008, American journal of medical genetics. Part A.

SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.

M. Kaiser-Kupfer, J. Mulvihill, D. Parry, 1986, American journal of medical genetics.

Identification of t(15;17) and a segmental duplication of chromosome 11q23 in a patient with acute myeloblastic leukemia M2.

J. Mulvihill, Shibo Li, Lijun Zhang, 2002, Cancer genetics and cytogenetics.

Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk

Shizhong Han, D. Sanghera, R. Ferrell, 2008, BMC Medical Genetics.

Ethical issues of CRISPR technology and gene editing through the lens of solidarity

R. Chadwick, Y. Joly, J. Mulvihill, 2017, British medical bulletin.

High‐resolution analysis of copy number variants in adults with simple‐to‐moderate congenital heart disease

J. Mulvihill, Xianfu Wang, Jiyun Lee, 2013, American journal of medical genetics. Part A.

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

M. Yeager, B. Luke, J. Mulvihill, 2016, Haematologica.

Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study

C. Johansen, J. Mulvihill, S. Dalton, 2021, Journal of Medical Genetics.

Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span

C. Johansen, A. Duun-Henriksen, J. Mulvihill, 2020, Genetics in Medicine.

Neurofibromatosis and leukemia.

J. Mulvihill, W. Zinkham, D. Stokes, 1978, American journal of diseases of children.

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.

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

William A Gahl, David R Adams, John J Mulvihill, 2016, Molecular genetics and metabolism.

CONGENITAL HEART DEFECTS AND PRENATAL SEX HORMONES

J. Mulvihill, C. Neill, CharlotteG. Mulvihi, 1974 .

The management of brainstem gliomas in patients with neurofibromatosis 1

I. Pollack, J. Mulvihill, B. Shultz, 1996, Neurology.

Evidence of Genetic Heterogeneity in Five Kindreds With Familial Hypertrophic Cardiomyopathy

J. Lalouel, R. Lifton, L. Fananapazir, 1992, Circulation.

Genetic analyses on a set of parasitic conjoined twins.

J. Mulvihill, R. Deka, M. Steele, 1992, American journal of medical genetics.

Cancer Risk Assessment and Genetic Counseling in an Academic Medical Center: Consultands' Satisfaction, Knowledge, and Behavior in the First Year

J. Mulvihill, M. Penles Stadler, 1998, Journal of Genetic Counseling.

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

M. Pericak-Vance, M. Spence, R. Martuza, 1987, Cell.

Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines

J. Mulvihill, Jiyun Lee, Shibo Li, 2013, Molecular Cytogenetics.

Immunologic abnormalities in melanoma-prone families.

W. Blattner, M. Greene, J. Fraumeni, 1979, Journal of the National Cancer Institute.

Familial eosinophilia: clinical and laboratory results on a U.S. kindred.

M. Tucker, A. Goldstein, T. Knutsen, 1998, American journal of medical genetics.

Inheritance of acute appendicitis: familial aggregation and evidence of polygenic transmission.

N. Morton, J. Mulvihill, D. Marinkoviĉ, 1990, American journal of human genetics.

Study design and cohort characteristics of the Childhood Cancer Survivor Study: a multi-institutional collaborative project.

John D Potter, John D Boice, Leslie L Robison, 2002, Medical and pediatric oncology.

Meeting Report. Assessing Human Germ-Cell Mutagenesis in the Post-Genome Era: A Celebration of the Legacy of William Lawson (Bill) Russell

J. S. Wassom, M. Shelby, J. Wassom, 2006 .

Strategies for controlling cancer through genetics.

J. Mulvihill, D. Parry, R. W. Miller, 1987, Cancer research.

Germline Mutations in the n Hippel-Lindau Disease (VrwL) Gene in Families From America, Europe, and Japan

W. Linehan, L. Schmidt, S. Richard, 1996 .

Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan

W. Linehan, L. Schmidt, S. Richard, 1996, Human mutation.

Clinical genetics of human cancer.

J. Mulvihill, 1982, IARC scientific publications.

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.

J J Mulvihill, D E Goldgar, P. Green, 1989, American journal of human genetics.

Genetics of SV40 T‐antigen expression: Studies of twins, heritable syndromes and cancer families

W. Blattner, J. Mulvihill, A. Lubiniecki, 1978, International journal of cancer.

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

P. Gaffney, J. Mulvihill, Z. Zhao, 2012, American journal of human genetics.

Low adherence to national guidelines for thyroid screening in Down syndrome

G. B. Schaefer, J. Mulvihill, B. Bright, 2009, Genetics in Medicine.

Preconception exposure to mutagens: medical and other exposures to radiation and chemicals

J. Mulvihill, 2012, Journal of Community Genetics.

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.

Small head size after atomic irradiation.

J. Mulvihill, R. Miller, 1976, Teratology.

39 – MUTATION EPIDEMIOLOGY AND ITS PROSPECTS FOR DETECTING HUMAN GERMINAL MUTAGENS

J. Mulvihill, James R. Miller, 1984 .

Sentinel and other mutational effects in offspring of cancer survivors.

J. Mulvihill, 1990, Progress in clinical and biological research.

Reproductive Outcomes among Men Treated for Cancer

J. Mulvihill, 1994 .

International Commission for Protection against Environmental Mutagens and Carcinogens. ICPEMC Working Paper 5/6. Perspectives in mutation epidemiology, 6. A 1983 view of sentinel phenotypes.

A. Czeizel, J. Mulvihill, 1983, Mutation research.

CANCER IN OFFSPRING OF LONG-TERM SURVIVORS OF CHILDHOOD AND ADOLESCENT CANCER

L. Strong, R. Connelly, J. Mulvihill, 1987, The Lancet.

The joy and duty of a marginal teratologist

J. Mulvihill, 2020, Birth defects research.

Fetal alcohol syndrome: seven new cases.

J. Mulvihill, D. Stokes, J. Klimas, 1976, American journal of obstetrics and gynecology.

Replication of Association Between a Common Variant Near Melanocortin‐4 Receptor Gene and Obesity‐related Traits in Asian Sikhs

L. Been, D. Sanghera, J. Mulvihill, 2010, Obesity.

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Euan A Ashley, Joseph Loscalzo, Alexa T McCray, 2017, American journal of human genetics.

Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US

L. Been, D. Sanghera, J. Mulvihill, 2011, BMC Medical Genetics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Harnessing genomics to identify environmental determinants of heritable disease.

M. Hurles, J. Lupski, P. Awadalla, 2013, Mutation research.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

Jean M. Davidson, Ellen F. Macnamara, Rebecca C. Spillmann, 2019, Journal of genetic counseling.

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

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

Further delineation of the Baller-Gerold syndrome.

H. Losken, J. Mulvihill, A. Lin, 1993, American journal of medical genetics.

Testing the association of novel meta-analysis-derived diabetes risk genes with type II diabetes and related metabolic traits in Asian Indian Sikhs

John J Mulvihill, Dharambir K Sanghera, L. Been, 2009, Journal of Human Genetics.

TCF7L2 Polymorphisms are Associated with Type 2 Diabetes in Khatri Sikhs from North India: Genetic Variation Affects Lipid Levels

D. Sanghera, J. Mulvihill, M. Kamboh, 2008, Annals of human genetics.

Reporting genomic secondary findings: ACMG members weigh in

Bruce E. Bowdish, M. Watson, J. Benkendorf, 2014, Genetics in 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.

Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay

J. Mulvihill, Shibo Li, Piers R. Blackett, 2005, American journal of medical genetics. Part A.

Clinical Report Ring Chromosome 4 in a Patient With Early Onset Type 2 Diabetes, Deafness, and Developmental Delay

J. Mulvihill, Shibo Li, P. Blackett, 2005 .

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

The floating harbor syndrome with cardiac septal defect.

J. Mulvihill, E. McPherson, L. J. Rittmeyer, 1996, American journal of medical genetics.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

A low frequency variant within the GWAS locus of MTNR1B affects fasting glucose concentrations: genetic risk is modulated by obesity.

L. Been, D. Sanghera, J. Mulvihill, 2012, Nutrition, metabolism, and cardiovascular diseases : NMCD.

Double trisomy

J. Mulvihill, Shibo Li, S. Hassed, 2004, American journal of medical genetics. Part A.

Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography.

L. Pickle, B. Maron, J. Mulvihill, 1984, The American journal of cardiology.

Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11.

K. Sakaguchi, S. Bale, M. Brandi, 1989, Genomics.

A Computer-Aided Method to Expedite the Evaluation of Prognosis for Childhood Acute Lymphoblastic Leukemia

Bin Zheng, Xingwei Wang, John J Mulvihill, 2006, Technology in cancer research & treatment.

PPARG and ADIPOQ gene polymorphisms increase type 2 diabetes mellitus risk in Asian Indian Sikhs: Pro12Ala still remains as the strongest predictor.

L. Been, D. Sanghera, J. Mulvihill, 2010, Metabolism: clinical and experimental.

Repair of sister-chromatid exchange-inducing lesions in mutagen-treated cultures of human whole blood and purified fresh or frozen lymphocytes.

J. Mulvihill, S. Galloway, D. Parry, 1988, Mutation research.

Letter: Congenital heart defects and prenatal sex hormones.

J. Mulvihill, C. Neill, C. G. Mulvihill, 1974, Lancet.

Neuroblastoma in Duchenne muscular dystrophy.

J. Mulvihill, M. Golabi, S. Zoger, 1986, Pediatrics.

A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population

L. Zhao, C. Benz, J. Mulvihill, 2014, BBA clinical.

On the Natural History of von Recklinghausen Neurofibromatosis

J. Mulvihill, A. Nielsen, SVEN ASGER Søsrensen, 1986, Annals of the New York Academy of Sciences.

Neurofibromatosis. A genetic epidemiologist's point of view.

J. Mulvihill, 1986, Annals of the New York Academy of Sciences.

Niikawa-Kuroki (Kabuki make-up) syndrome.

M. Kaiser-Kupfer, J. Mulvihill, 1989, American journal of medical genetics.

The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black.

M. Kaiser-Kupfer, J. Mulvihill, D. Parry, 1986, American journal of ophthalmology.

Cryptic and complex chromosomal rearrangements and the deletion of TP53 gene in a patient with leukemic mantle cell lymphoma.

J. Mulvihill, Shibo Li, Lijun Zhang, 2006, Cancer genetics and cytogenetics.

Short communication Cryptic and complex chromosomal rearrangements and the deletion of TP53 gene in a patient with leukemic mantle cell lymphoma

J. Mulvihill, Shibo Li, Lijun Zhang, 2006 .

Stillbirth and neonatal death in relation to radiation exposure before conception: a retrospective cohort study

H. Munro, L. Signorello, D. Green, 2010, The Lancet.

PREGNANCY OUTCOME IN HODGKIN'S DISEASE

J. Mulvihill, F. Rosner, M. Zarrabi, 1979, The Lancet.

Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics.

J. Mulvihill, D. Parry, A. Bale, 1985, American journal of medical genetics.

Ring chromosome 9 [r(9)(p24q34)]: A report of two cases

J. Mulvihill, Jiyun Lee, Shibo Li, 2005, American journal of medical genetics. Part A.

Melkersson-Rosenthal syndrome in a 7-year-old girl.

J. Mulvihill, B. Roseman, 1978, Pediatrics.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Canine hip dysplasia: relative risk by sex, size, and breed, and comparative aspects.

J. Mulvihill, W. Priester, 1972, Journal of the American Veterinary Medical Association.

Automated classification of metaphase chromosomes: Optimization of an adaptive computerized scheme

Shibo Li, Bin Zheng, Hong Liu, 2009, J. Biomed. Informatics.

Development and assessment of an integrated computer-aided detection scheme for digital microscopic images of metaphase chromosomes

Shibo Li, Hong Liu, Bin Zheng, 2008, J. Electronic Imaging.

A rule-based computer scheme for centromere identification and polarity assignment of metaphase chromosomes

Shibo Li, Hong Liu, Bin Zheng, 2008, Comput. Methods Programs Biomed..

National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health.

Robert A Hiatt, Gail P Jarvik, John J Mulvihill, 2009, Annals of internal medicine.

Impact of Common Type 2 Diabetes Risk Polymorphisms in Asian Indian Sikhs : Gene-Gene Interaction May Improve Risk Prediction

Shizhong Han, D. Sanghera, R. Ferrell, 2007 .

Fetal alcohol syndrome

J. Mulvihill, A. Yeager, 1976 .

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1

C. Johansen, J. Mulvihill, S. Dalton, 2020, European Journal of Human Genetics.

Melkersson-Rosenthal syndrome, Hodgkin disease, and corneal keratopathy.

J. Fraumeni, J. Mulvihill, W. W. Eckman, 1973, Archives of internal medicine.

Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

F. Chen, B. Zbar, J. Mulvihill, 1996, Journal of medical genetics.

Cancer in siblings of children with cancer in the Nordic countries: a population-based cohort study

J. Olsen, F. Langmark, R. Sankila, 2001, The Lancet.

School performance of children with neurofibromatosis 1: a nationwide population-based study

J. Mulvihill, H. Hove, L. Kenborg, 2022, European Journal of Human Genetics.

Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

C. Johansen, J. Mulvihill, S. Dalton, 2020, American journal of medical genetics. Part A.

Nongonadal neoplasia in Turner's syndrome.

J. Fraumeni, J. Mulvihill, W. Wertelecki, 1970, Cancer.

Hospitalizations among children of survivors of childhood and adolescent cancer: A population‐based cohort study

J. Olsen, M. Stovall, J. Mulvihill, 2010, International journal of cancer.

Research standardization tools: pregnancy measures in the PhenX Toolkit

Carol M. Hamilton, Siobhan M. Dolan, Rosalind J Wright, 2017, American journal of obstetrics and gynecology.

Breast cancer risk analysis and counseling.

J. Mulvihill, M. P. Stadler, 1996, Clinical obstetrics and gynecology.

Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management.

J. Mulvihill, N. Nwokoro, B. Hyde, 1994, American journal of medical genetics.

Inheritance of pancreatic cancer in pancreatic cancer-prone families.

J. Mulvihill, C. Aston, M. Banke, 2000, The Medical clinics of North America.

Prenatal identification of a novel R937P L1CAM missense mutation.

J. Mulvihill, Shibo Li, A. Wagner, 2009, Genetic testing and molecular biomarkers.

Genes Protecting Against Cancers and Tumor Suppressor Genes

J. Mulvihill, 2000 .

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.

A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10

C. Morris, H. Losken, B. Keats, 1994, Nature Genetics.

Pregnancy outcome in cancer patients. Experience in a large cooperative group

J. Mulvihill, F. Rosner, M. Zarrabi, 1987, Cancer.

Research vistas in the multiple endocrine neoplasia syndromes.

J. Mulvihill, 1984, Henry Ford Hospital medical journal.

Preconception exposure to mutagens: medical and other exposures to radiation and chemicals

J. Mulvihill, 2012, Journal of Community Genetics.

Population-based clinical epidemiology of familial cancer: lessons for oncologists.

J. Mulvihill, J. Winther, 2009, The Lancet. Oncology.

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.

The frequency of hereditary large bowel cancer.

J. Mulvihill, 1983, Progress in clinical and biological research.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Genetic Linkage Analysis of Neurofibromatosis a

M. Spence, M. Marazita, J. Mulvihill, 1986, Annals of the New York Academy of Sciences.

Strategies for controlling cancer through genetics: report of a workshop.

J. Mulvihill, D. Parry, R. W. Miller, 1987, American journal of human genetics.

Fetal Alcohol Spectrum Disorder

J. Mulvihill, D. Dannaway, 2009 .

Psychosocial consequences of childhood and adolescent cancer survival.

S. Kasl, J. Mulvihill, J. Meigs, 1986, Journal of chronic diseases.

Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1

C. Johansen, J. Mulvihill, S. Dalton, 2020, European Journal of Human Genetics.

Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

C. Johansen, J. Mulvihill, S. Dalton, 2019, European Journal of Human Genetics.

Pharmacogenetics, race, and ethnicity: social identities and individualized medical care.

M. W. Foster, J. Mulvihill, R. Sharp, 2001, Therapeutic drug monitoring.

Double trisomy (Am J Med Genet 124A: 96–98)

J. Mulvihill, Shibo Li, S. Hassed, 2005 .

Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span

C. Johansen, A. Duun-Henriksen, J. Mulvihill, 2020, Genetics in Medicine.

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.

Catalog of Human Cancer Genes: McKusick's Mendelian Inheritance in Man for Clinical and Research Oncologists (Onco-MIM)

J. Mulvihill, M. Daly, 1999 .

Another disorder with prenatal shortness of stature and premature aging.

J. Mulvihill, D. W. Smith., 1975, Birth defects original article series.

Long-time observations of the Blalock-Taussig operation. V. Neoplasms in Tetralogy of Fallot.

J. Mulvihill, H. Taussig, R. W. Miller, 1973, The Johns Hopkins medical journal.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Statement on bioinformatics and capturing the benefits of genome sequencing for society

R. Chadwick, Y. Joly, J. Mulvihill, 2019, Human Genomics.

Prospects for cancer control and prevention through genetics.

J. Mulvihill, 1989, Clinical genetics.

Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3' EWSR1 gene in a patient with Ewing sarcoma.

J. Mulvihill, Jiyun Lee, Shibo Li, 2005, Cancer genetics and cytogenetics.

Pulmonary-artery pressure in myocardial infarction.

J. Mulvihill, A. Cibulski, C. Williams, 1971, The New England journal of medicine.

Encomium: Robert Warwick Miller: mentor, synthesizer, and international interdisciplinary initiator.

J. Mulvihill, J. Mulvihill, 1998, American journal of medical 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.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

F. Chen, B. Zbar, J. Mulvihill, 1996, Journal of medical genetics.

Genetic disease in offspring of long-term survivors of childhood and adolescent cancer.

L. Strong, R. Connelly, J. Mulvihill, 1998, American journal of human genetics.

CLINICAL ENDOCRINOLOGY & METABOLISM

S. Grundy, M. Fillyaw, J. Norton, 1992 .

Smoking habits in survivors of childhood and adolescent cancer.

L. Strong, R. Connelly, J. Mulvihill, 1992, Medical and pediatric oncology.

Radiotherapy for childhood cancer and risk for congenital malformations in offspring: a population‐based cohort study

J. Olsen, M. Stovall, J. Mulvihill, 2009, Clinical genetics.

Deletion of 14q24.1 approximately q24.3 in a patient with acute lymphoblastic leukemia: a hidden chromosomal anomaly detected by array-based comparative genomic hybridization.

J. Mulvihill, Weihong Xu, Shibo Li, 2008, Cancer genetics and cytogenetics.

Effect of cohort differences in smoking prevalence on models of lung cancer susceptibility

T. Sellers, R. Elston, J. Potter, 1992, Genetic epidemiology.

Decreased progesterone binding and attenuated progesterone action in cultured human breast carcinoma cells treated with epidermal growth factor.

W. Blattner, J. Nadeau, C. Pui, 1988, Cancer research.

International Genetic Workshop on Crouzon Disease and Other Craniofacial Disorders, Pittsburgh, Pa, March 10-11, 1995

J. Mulvihill, G. Ehrlich, J. Post, 1996 .

Quality of life in long-term survivors of CNS tumors of childhood and adolescence.

R. Connelly, J. Mulvihill, J. Byrne, 1991, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

International Commission for Protection against Environmental Mutagens and Carcinogens. ICPEMC Working Paper 5/6. Perspectives in mutation epidemiology, 6. A 1983 view of sentinel phenotypes.

A. Czeizel, J. Mulvihill, 1983, Mutation research.

Development of an integrated computerized scheme for metaphase chromosome image analysis: a robustness experiment

Hong Liu, Bin Zheng, Xingwei Wang, 2008, SPIE BiOS.

Genetics and cancer in man

J. Mulvihill, 1980 .

Statement on bioinformatics and capturing the benefits of genome sequencing for society

R. Chadwick, Y. Joly, J. Mulvihill, 2019, Human Genomics.

Stillbirth and neonatal death in relation to radiation exposure before conception: a retrospective cohort study

L. Signorello, L. Robison, A. Mertens, 2010, The Lancet.

The View of CRISPR Patents Through the Lens of Solidarity and the Public Good

Y. Joly, J. Mulvihill, T. Lysaght, 2018, The American Journal of Bioethics.

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

P. Gaffney, J. Mulvihill, Z. Zhao, 2012, American journal of human genetics.

Radiosensitivity of skin fibroblasts from atomic bomb survivors with and without breast cancer.

R. Setlow, G. Beebe, M. Bender, 1990, Cancer research.

Deletion of 14q24.1 approximately q24.3 in a patient with acute lymphoblastic leukemia: a hidden chromosomal anomaly detected by array-based comparative genomic hybridization.

J. Mulvihill, Weihong Xu, Shibo Li, 2008, Cancer genetics and cytogenetics.