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List of works by Jan M Friedman

A case of splenomegaly in CBL syndrome

scientific article

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

scientific article published on 17 September 2009

A different approach to validating screening assays for developmental toxicity

scientific article published in December 2010

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

scientific article published on 22 January 2019

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

scientific article published on 28 January 2014

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

scientific article

A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints

scientific article published in June 2008

ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects

scientific article published on 11 July 2012

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

scientific article published in December 2017

An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1.

scientific article published in April 1997

Analysis of NF1 transcriptional regulatory elements.

scientific article

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

scientific article published in August 2002

Analysis of neurofibromatosis 1 (NF1) lesions by body segment

article

Anatomic correlates of ultrasonographic prenatal diagnosis

scientific article published on 01 January 1986

Aneuploidy in germ cells: etiologies and risk factors

scientific article published on 01 January 1996

Antineoplastic drugs

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome

article

Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium

scientific article published on April 2013

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

scientific article published on 09 July 2019

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors

scientific article published on 14 August 2018

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions

scientific article published on 23 July 2018

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1.

scientific article published on 17 June 2008

Association between benign and malignant peripheral nerve sheath tumors in NF1.

scientific article published in July 2005

Association of Professors of Human or Medical Genetics: second annual workshop summary

scientific article published in October 1997

Association of professors of human or medical genetics: Summary of first annual workshop ⬇️

scientific article published on October 28, 1996

Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)

scientific article published on 01 April 1999

Associations of osseous abnormalities in Neurofibromatosis 1.

scientific article published in June 2007

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing

scientific article published on 15 May 2013

BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer

scientific article

Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1.

scientific article published on 29 October 2013

Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease

scientific article

Big risks in small groups: The difference between epidemiology and counselling

scientific article published on 01 August 2009

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

scientific article published on 01 May 1988

Can maternal alcohol ingestion cause neural tube defects?

scientific article published on 01 August 1982

Cardiac findings in an individual with neurofibromatosis 1 and sudden death

scientific article published on 01 April 2001

Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.

scientific article published in September 1993

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

scientific article published on 01 November 2000

Cerebrovasculopathy in NF1 associated with ocular and scalp defects

scientific article published on 22 December 2010

Chromosome abnormalities in human beings.

scientific article

Clinical Teratology

Clinical and genetic aspects of neurofibromatosis 1.

scientific article

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

scientific article

Clinical objectives in medical genetics for undergraduate medical students

article

Clinical teratology counseling and consultation report: High dose β-carotene use during early pregnancy

scientific article published on 01 August 1996

Combined immunodeficiency associated with homozygous MALT1 mutations

scientific article published on 12 December 2013

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling

scientific article published on 24 March 2016

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation ⬇️

scientific article

Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment

scientific article published on September 1, 1992

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

scientific article published on 12 September 2017

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

scientific article

Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: Coincidence or clue?

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

scientific article (publication date: 14 May 2010)

ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

article published in 2003

Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!

scientific article published on 12 September 2017

Controversy and debate on clinical genomics sequencing-paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau

scientific article published on 22 September 2017

Creation of an international registry to support discovery in schwannomatosis.

scientific article published on 19 October 2016

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

scientific article published on 22 November 2015

DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

scientific article published on 23 May 2016

Decreased bone mineral density in patients with neurofibromatosis 1.

scientific article

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

scientific article published in June 1999

Developmental Toxicology and Teratology

Developmental toxicity of ribavirin/IFα combination therapy: Is the label more dangerous than the drugs? ⬇️

scientific article published on January 1, 2003

Different patterns of mast cells distinguish diffuse from encapsulated neurofibromas in patients with neurofibromatosis 1.

scientific article published on 27 April 2011

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

scientific article published on 11 April 2013

Drug safety in pregnant women and their babies: ignorance not bliss.

scientific article published on 12 December 2007

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

scientific article published on 14 October 2009

Duty to Re‐Contact: A Study of Families at Risk for Fragile X ⬇️

scientific article published on February 1, 1999

Early prenatal ultrasonic findings in klippel—trenaunay—weber syndrome

scientific article published on 01 May 1984

Early primary tooth eruption in neurofibromatosis 1 individuals

Editorial In Bed with The Devil: Recognizing Human Teratogenic Exposures

Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study

Emerging issues in teratology: an introduction

scientific article

Empirical development of improved diagnostic criteria for neurofibromatosis 2

article

Ensuring the safe and effective use of medications during pregnancy: planning and prevention through preconception care

scientific article (publication date: September 2006)

Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound.

scientific article published on September 1984

Eugenics and the "New Genetics"

article

Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders

scientific article published in April 2018

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

scientific article published on 01 December 2002

Evolving knowledge of the teratogenicity of medications in human pregnancy.

scientific article published on 15 July 2011

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

scientific article

Exploring the "two-hit hypothesis" in NF2: tests of two-hit and three-hit models of vestibular schwannoma development.

scientific article published in May 2003

Exposure-based validation list for developmental toxicity screening assays

scientific article published on 4 December 2014

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

scientific article

Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease

scientific article

Familial carcinoma of the pancreas

scientific article published on 01 May 1976

Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs

scientific article published on 01 June 1989

Fetal karyotype following ascertainment of fetal anomalies by ultrasound

scientific article published on 01 October 1987

Genetic Misconceptions

scientific article published on 01 January 1982

Genetic disease in the offspring of older fathers ⬇️

scientific article published on June 1, 1981

Genetic heterogeneity in spondyloepiphyseal dysplasia congenita

Genetic mosaics and the germ line lineage

scientific article

Genetics in Medicine and informatics for the genetic clinician

article

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing

article

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

scientific article published on 12 June 2018

Genotype-phenotype correlations for cataracts in neurofibromatosis 2.

scientific article published in October 2003

Growth charts for young children with neurofibromatosis 1 (NF1)

scientific article published on 01 May 2000

Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1.

scientific article

Growth in North American white children with neurofibromatosis 1 (NF1)

scientific article

Growth in neurofibromatosis 1 microdeletion patients

scientific article published on 22 July 2015

HLA-B8 IN JUVENILE DERMATOMYOSITIS

scientific article published in The Lancet

Hemifacial microsomia in cri du chat (5p-) syndrome

scientific article published on 01 January 1982

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome

article

How do we know if an exposure is actually teratogenic in humans? ⬇️

scientific article published on July 15, 2011

How many genes underlie the occurrence of common complex diseases in the population?

scientific article published on 25 July 2005

Human chromosome 7: DNA sequence and biology

scientific article

Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism

scientific article published in March 1990

Immunogenetic studies of juvenile dermatomyositis. III. Study of antibody to organ-specific and nuclear antigens

article

Immunogenetic studies of juvenile dermatomyositis: HLA-DR antigen frequencies.

scientific article published in February 1983

Impact of BRCA mutations on female fertility and offspring sex ratio

scientific article

Improvement in stroke mortality in Canada and the United States, 1990 to 2002.

scientific article published in March 2006

Increased dental caries in people with neurofibromatosis 1

scientific article published on 01 December 2007

Increasing the specificity of diagnostic criteria for schwannomatosis

scientific article published on 01 March 2006

Individual DNA samples and health information sold by 23andMe

article

Interpreting chromosomal abnormalities using Prolog.

scientific article published in April 1990

Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).

scientific article published in October 2002

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

scientific article published in November 2016

Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?

scientific article

Kallmann syndrome associated with choanal atresia

scientific article published in April 1987

Key Implications of Data Sharing in Pediatric Genomics

article by Vasiliki Rahimzadeh et al published 1 May 2018 in JAMA Pediatrics

Letter: Inheritance of susceptibility to histocompatibility-associated disease ⬇️

scientific article published on January 3, 1976

Life-Threatening Status Asthmaticus at 12.5 Weeks’ Gestation

scientific article published on 01 July 1991

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome

article by Erica Tsang et al published 17 August 2012 in American Journal of Medical Genetics

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree

article

Longitudinal studies of chromosomal abnomalities and reticulum cell proliferation in new zealand black mice ⬇️

scientific article published on October 15, 1978

Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

scientific article published on 17 October 2008

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

scientific article published on 27 June 2017

Low risk of solid tumors in persons with Down syndrome

scientific article

Management of multiple sclerosis during pregnancy and the reproductive years: a systematic review.

scientific article

Massively Parallel Sequencing

Massively parallel sequencing: the next big thing in genetic medicine

scientific article

Maternal serum α-tetoprotein in pregnancy

scientific article published on 01 August 1990

Maternal treatment with opioid analgesics and risk for birth defects

scientific article

Maternal use of bupropion and risk for congenital heart defects

scientific article published on 24 April 2010

Medications in the first trimester of pregnancy: most common exposures and critical gaps in understanding fetal risk ⬇️

scientific article published on July 29, 2013

Mild phenotypic abnormalities in combined del 9p2 and dup 3p2.

scientific article published in March 1990

Molecular Basis of Cardiovascular Abnormalities in NF1

Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

scientific article

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy

scientific article published on 15 February 2019

Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy

Myelodysplasia and leukemia syndrome with monosomy 7: a genetic perspective.

scientific article published on March 1990

NF1 gene and neurofibromatosis 1

scientific article (publication date: 2000)

National Neurofibromatosis Foundation International Database

scientific article

Neoplastic behavior of chromosomally abnormal clones in New Zealand black mice ⬇️

scientific article published on October 15, 1978

Neuroblastoma in a child with Wiedemann-Beckwith syndrome

scientific article published on 01 March 1990

Neurofibromatosis 1

scientific article published on 6 June 2019

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1

scientific article published on 20 December 2018

Non-optic glioma in adults and children with neurofibromatosis 1.

scientific article published on 15 February 2017

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

scientific article

OTIS special issue preface

scientific article published on 27 July 2012

Occurrence of chickenpox during pregnancy in women seropositive for varicella-zoster virus.

scientific article

One Fewer Worry for Survivors of Childhood Cancer ⬇️

scientific article published on January 1, 1998

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

scientific article published on 12 January 2007

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

scientific article published on 01 March 2019

Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID.

scientific article published in November 2009

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.

scientific article published on 7 April 2016

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

scientific article published on 01 September 2013

Patterns of antidepressant medication use among pregnant women in a United States population

scientific article published on 27 July 2010

Patterns of associations of clinical features in neurofibromatosis 1 (NF1).

scientific article published on 20 December 2002

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey

scientific article published on 09 June 2009

Physician and Patient Education

Population-based analyses of mortality in trisomy 13 and trisomy 18.

scientific article published in April 2003

Predictors of the risk of mortality in neurofibromatosis 2

scientific article published on 22 August 2002

Pregnancy and postnatal outcome of mosaic isochromosome 20q.

scientific article published on February 2007

Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank.

scientific article

Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

article

Prevalence of dental caries in children with neurofibromatosis 1

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns

scientific article published on 21 May 2013

Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults

scientific article published on 4 April 2012

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.

scientific article published on 21 April 2015

RAPIDLY ADHERING AMNIOTIC-FLUID CELLS AND PRENATAL DIAGNOSIS OF NEURAL-TUBE DEFECTS

scientific article published in The Lancet

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges

scientific article published on 07 June 2019

Race-ethnicity differences in folic acid intake in women of childbearing age in the United States after folic acid fortification: findings from the National Health and Nutrition Examination Survey, 2001-2002.

scientific article

ReCAP: The registry of cytogenetic abnormalities and phenylketonuria

article

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family

scientific article (publication date: March 2001)

Reply

Reproduction and transplantation: report on the AST Consensus Conference on Reproductive Issues and Transplantation

scientific article

S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas

scientific article

Safe lists for medications in pregnancy: inadequate evidence base and inconsistent guidance from Web-based information, 2011.

scientific article published on 29 January 2013

Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence

scientific article published on 2 May 2016

Safety of selective serotonin reuptake inhibitors in pregnancy

scientific article published on January 2009

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.

scientific article published on 23 April 2018

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

scientific article

Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options

scientific article published in October 2009

Specific SSRIs and birth defects: Bayesian analysis to interpret new data in the context of previous reports

scientific article

Structural variation of chromosomes in autism spectrum disorder

scientific article

Studies of the HLA Complex in Families of Children with Congenital Heart Disease ⬇️

scientific article published on May 1, 1978

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients

Teratogen update: azathioprine and 6-mercaptopurine.

scientific article

Teratology society consensus statement on use of folic acid to reduce the risk of birth defects ⬇️

scientific article published on June 1, 1997

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia

scientific article published on 30 May 2018

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult

scientific article published in December 1975

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

scientific article published on 7 May 2015

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

scientific article published on 4 January 2018

The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study

scientific article published on 25 May 2013

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

scientific article published on October 2007

The importance of genetic counselling in genome-wide sequencing

scientific article published on 01 December 2018

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

scientific article

The principles of teratology: are they still true?

scientific article published in October 2010

The sensitivity of massively parallel sequencing for detecting candidate infectious agents associated with human tissue

scientific article published on 13 May 2011

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.

scientific article published on July 2007

Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: an analysis of multiple cause mortality data

scientific article published in November 2006

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients

scientific article

Update on new developments in the study of human teratogens.

scientific article

Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects

scientific article published in June 2007

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children

scientific article published in March 2000

Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot? ⬇️

scientific article published on December 3, 2011

Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability

scientific article

Valuing gene testing in children with possible neurofibromatosis 1.

scientific article published on 12 November 2011

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study

scientific article published on 01 February 2002

Viral “Tumorigenesis” in man: Cell markers incondylomata acuminata

scientific article published on 01 January 1976

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1.

scientific article published on 29 March 2006

White matter is increased in the brains of adults with neurofibromatosis 1

scientific article published in 2022

Williams syndrome in adults

scientific article published in December 1992

Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation

scientific article

Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility

article

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing

scientific article published on 17 August 2012

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