J. Friedman

Jane S. Paulsen, Y. Bombard, M. Hayden, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

Jan M Friedman, L. Kluwe, V. Mautner, 2008, Neuro-oncology.

The importance of genetic counselling in genome-wide sequencing

A. Elliott, J. Friedman, 2018, Nature Reviews Genetics.

Clinical Teratology

J. Friedman, S. Alwan, 2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Teratogenic Effects of `Recreational' Drugs: Increasing the risk of congenital anomalies.

J. Friedman, J. Polifka, 1991, Canadian family physician Medecin de famille canadien.

Medical genetics: 1. Clinical teratology in the age of genomics.

J. Friedman, J. Polifka, Jan M. Friedman, 2002, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

Genetic susceptibility to teratogenic effects Both maternal and fetal genotypes can affect placental

J. Friedman, J. Polifka, 2022 .

Low risk of solid tumors in persons with Down syndrome

Jørgen H Olsen, Jan M Friedman, J. Olsen, 2016, Genetics in Medicine.

Clinical teratology counseling and consultation report: high dose beta-carotene use during early pregnancy.

J. Friedman, J. Polifka, C. Dolan, 1996, Teratology.

Teratogenicity of Recently Introduced Medications in Human Pregnancy

J M Friedman, J. Friedman, W Y Lo, 2002, Obstetrics and gynecology.

A Novel Mouse Model for Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency.

Tess C Lengyell, E. Simpson, C. Ross, 2020, Human molecular genetics.

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

Jennita Reefhuis, S. Rasmussen, J. Reefhuis, 2007, The New England journal of medicine.

Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature.

D. Chitayat, V. Riccardi, J. Friedman, 1989, Neurofibromatosis.

Chapter 36 – Clinical Teratology

J. Friedman, 2013 .

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

J. Friedman, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

A reevaluation of risk of in utero exposure to lithium.

J. Jefferson, J. Friedman, M. Weiner, 1994, JAMA.

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

D. Chitayat, J. Friedman, M. Johnston, 1990, American journal of medical genetics.

NF1 gene and neurofibromatosis 1.

J M Friedman, S. Rasmussen, S. Rasmussen, 2000, American journal of epidemiology.

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

M. MacPhee, J. Friedman, S. Adam, 2016, Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing.

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

J. Friedman, E. Lopez-Rangel, M. Hrynchak, 1993, American journal of medical genetics.

Fetal karyotype following ascertainment of fetal anomalies by ultrasound

R. Magenis, J. Friedman, C. Palmer, 1987, Prenatal diagnosis.

Studies of the HLA complex in families of children with congenital heart disease.

J. Friedman, M. Paul, 1978, Tissue antigens.

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

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

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

M. Farrer, R. Person, S. Naidu, 2017, American journal of human genetics.

Approaches to Treating NF1 Tibial Pseudarthrosis: Consensus From the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium

A. Crawford, D. Eastwood, D. Viskochil, 2013, Journal of pediatric orthopedics.

Analysis of NF1 transcriptional regulatory elements

J. Friedman, Tsz Kin Bernard Lee, J. Friedman, 2005, American journal of medical genetics. Part A.

Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

L. Kluwe, R. Friedrich, V. Mautner, 2003, Human mutation.

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

S. Scherer, C. Marshall, J. Vincent, 2008, Psychiatric genetics.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European Journal of Human Genetics.

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

Jan M Friedman, Lionel Willatt, Howard Martin, 2007, Journal of Medical Genetics.

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α

J M Friedman, M. Marra, A. Delaney, 2007, Journal of Medical Genetics.

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

B. Fernandez, B. Knoppers, K. Boycott, 2015, Journal of Medical Genetics.

Epidemiology of neurofibromatosis type 1.

J. Friedman, 1999, American journal of medical genetics.

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

M. Marra, K. Buysse, G. Mortier, 2007, Journal of Medical Genetics.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2021, Genetics in Medicine.

The use of dysmorphology in birth defects epidemiology.

J. Friedman, 1992, Teratology.

Management of Multiple Sclerosis During Pregnancy and the Reproductive Years

G. Koren, A. Sadovnick, R. Bove, 2014 .

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Steven J. M. Jones, Shing Hei Zhan, Clara DM van Karnebeek, 2014, Orphanet Journal of Rare Diseases.

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

Steven J. M. Jones, M. Marra, K. Mungall, 2017, BMC Genomics.

Combined immunodeficiency associated with homozygous MALT1 mutations.

R. Holt, M. Seear, J. Rozmus, 2014, The Journal of allergy and clinical immunology.

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

B. Knoppers, Y. Bombard, S. Plon, 2018, Genetics in Medicine.

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

Carolyn J. Brown, M. Marra, F. Zahir, 2016, American journal of medical genetics. Part A.

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

M. Marra, A. Delaney, M. Griffith, 2013, European Journal of Human Genetics.

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

M. Marra, F. Zahir, S. Langlois, 2012, American journal of medical genetics. Part A.

Genetic Mosaics and the Germ Line Lineage

J. Friedman, M. Samuels, 2015, Genes.

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

J. Friedman, S. Adam, 2017, Journal of clinical epidemiology.

Alterations in Brain Morphology by MRI in Adults with NF1

V. Mautner, J. Friedman, Su Wang, 2019 .

Clinical and genetic aspects of neurofibromatosis 1

J. Friedman, K. Jett, 2010, Genetics in Medicine.

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

V. Mautner, J. Friedman, C. Schnabel, 2013, Joint, bone, spine : revue du rhumatisme.

Neuroblastoma in a child with Wiedemann-Beckwith syndrome.

D. Chitayat, J. Friedman, J. Dimmick, 1990, American journal of medical genetics.

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.

D. Chitayat, J. Friedman, J. Dimmick, 1988, American journal of medical genetics.

Ensuring the Safe and Effective Use of Medications During Pregnancy: Planning and Prevention Through Preconception Care

L. Holmes, J. Friedman, J. Cragan, 2006, Maternal and Child Health Journal.

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

M. Marra, F. Zahir, S. Langlois, 2009, American journal of medical genetics. Part A.

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

Dean A Regier, Jan M Friedman, Carlo A Marra, 2010, American journal of human genetics.

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

Marco A. Marra, Hong Qian, Giulia C. Kennedy, 2007, BMC Bioinformatics.

Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

J. Friedman, I. Filges, 2015, Prenatal diagnosis.

Survival among people with Down syndrome: a nationwide population-based study in Denmark

S. Rasmussen, J. Olsen, D. Schendel, 2012, Genetics in Medicine.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

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

J. Friedman, M. Harrod, P. Howard‐Peebles, 1992, American journal of medical genetics.

Cardiac findings in an individual with neurofibromatosis 1 and sudden death.

J. Friedman, M. Allard, S. Hamilton, 2001, American journal of medical genetics.

Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)

Yinshan Zhao, G. Rouleau, G. Rouleau, 2002, Genetic epidemiology.

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

D. Chitayat, B. Keena, J. Friedman, 1989, American journal of medical genetics.

Exposure-based validation list for developmental toxicity screening assays.

Aldert H Piersma, Robert E Chapin, Jan M Friedman, 2014, Birth defects research. Part B, Developmental and reproductive toxicology.

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

M. Marra, F. Zahir, S. Langlois, 2019, Journal of Human Genetics.

Patterns of Antidepressant Medication Use Among Pregnant Women in a United States Population

S. Rasmussen, J. Reefhuis, J. Friedman, 2011, Journal of clinical pharmacology.

Teratogen update: anesthetic agents.

J. Friedman, 1988, Teratology.

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

M. Farrer, N. Bansback, M. Demos, 2018, Journal of Genetic Counseling.

Hospitalizations among people with Down syndrome: A nationwide population‐based study in Denmark

S. Rasmussen, J. Olsen, D. Schendel, 2013, American journal of medical genetics. Part A.

Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998.

S. Rasmussen, A. Correa, L. Wong, 2006, The Journal of pediatrics.

Implications of research in male-mediated developmental toxicity to clinical counsellors, regulators, and occupational safety officers.

J. Friedman, 2003, Advances in experimental medicine and biology.

The principles of teratology: are they still true?

J. Friedman, 2010, Birth defects research. Part A, Clinical and molecular teratology.

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

J. Friedman, D. Kalousek, K. Game, 1990, American journal of medical genetics.

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

F. Rousseau, J. Friedman, S. Adam, 2013, European Journal of Human Genetics.

Exome Sequencing and Clinical Diagnosis.

J. Carey, K. Jones, J. Friedman, 2020, JAMA.

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

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

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

B. Coe, A. Montpetit, W. Lam, 2011, BMC Medical Genomics.

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

S. Langlois, F. Rousseau, J. Friedman, 2013, Molecular genetics & genomic medicine.

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

J. Friedman, S. Adam, A. Townsend, 2013, Genetics in Medicine.

ACE inhibitors and congenital anomalies.

J. Friedman, 2006, The New England journal of medicine.

Utilization and uptake of clinical genetics services in high-income countries: A scoping review.

L. Lynd, A. Elliott, J. Friedman, 2021, Health policy.

Key Implications of Data Sharing in Pediatric Genomics

Marc S. Williams, B. Knoppers, S. Terry, 2017, JAMA pediatrics.

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

J. Friedman, S. Adam, 2017, Journal of clinical epidemiology.

Prevalence of dental caries in children with neurofibromatosis 1

L. Armstrong, J. Friedman, T. Tucker, 2010, Clinical Oral Investigations.

Analysis of neurofibromatosis 1 (NF1) lesions by body segment

V. Riccardi, J. Friedman, H. Joe, 2004, American journal of medical genetics. Part A.

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

L. Kluwe, V. Mautner, M. Baser, 2002, Journal of neurosurgery.

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

S. Gabriel, K. Shianna, C. Walsh, 2012, American journal of human genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Incidental Findings from Clinical Genome-Wide Sequencing: A Review

J. Friedman, S. Adam, P. Birch, 2014, Journal of Genetic Counseling.

Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences

I. Birol, Readman Chiu, J. Friedman, 2021, Genome Biology.

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

J. Friedman, S. Adam, A. Townsend, 2013, American journal of medical genetics. Part A.

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

Jan M Friedman, Owen Devine, Jennita Reefhuis, 2015, BMJ : British Medical Journal.

Early primary tooth eruption in neurofibromatosis 1 individuals.

R. Friedrich, V. Mautner, J. Friedman, 2007, European journal of oral sciences.

ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects.

J. Friedman, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Assessment of Case Reports and Clinical Series

J. Friedman, 2018 .

Chapter 28 – Assessment of Case Reports and Clinical Series

J. Friedman, 1998 .

Physician and Patient Education

J. Friedman, 1994 .

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

J. Friedman, D. Gilchrist, P. Rogers, 1990, American journal of medical genetics.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

D. Evans, M. Baser, J. Friedman, 2001, Journal of medical genetics.

Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.

C. V. van Karnebeek, J. Friedman, P. van Essen, 2021, Molecular genetics and metabolism.

A different approach to validating screening assays for developmental toxicity.

A. Piersma, G. Daston, J. M. Rogers, 2010, Birth defects research. Part B, Developmental and reproductive toxicology.

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.

R. Berry, J. Friedman, J. Mulinare, 2007, The American journal of clinical nutrition.

Communicating risks during pregnancy: a workshop on the use of data from animal developmental toxicity studies in pregnancy labels for drugs.

C. Kimmel, C. Chambers, J. Friedman, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Report of the Teratology Society Public Affairs Committee symposium on FDA classification of drugs.

J. Friedman, 1993, Teratology.

Maternal treatment with opioid analgesics and risk for birth defects.

S. Rasmussen, M. Jann, J. Reefhuis, 2011, American journal of obstetrics and gynecology.

A severe form of congenital contractural arachnodactyly in two newborn infants.

J. Opitz, J. Friedman, G. Currarino, 1986, American journal of medical genetics.

Renpenning syndrome in a female

Lijia Huang, A. Lehman, A. Elliott, 2019, American journal of medical genetics. Part A.

Using genomics for birth defects epidemiology: can epigenetics cut the GxE Gordian knot?

J. Friedman, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Williams syndrome in adults.

J. Friedman, B. McGillivray, E. Lopez-Rangel, 1992, American journal of medical genetics.

Improvement in Stroke Mortality in Canada and the United States, 1990 to 2002

R. Berry, J. Friedman, Quanhe Yang, 2006, Circulation.

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

J. Friedman, M. V. Van Allen, R. Rupps, 2001, American journal of medical genetics.

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

Mitra Esfandiarei, J. Friedman, C. van Breemen, 2018, PloS one.

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors

F. Légaré, J. Friedman, S. Adam, 2018, Journal of Genetic Counseling.

Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound.

J. Friedman, A. Weinberg, J. Rutledge, 1984, American journal of obstetrics and gynecology.

Teratogenic effects of drugs : a resource for clinicians : TERIS

J. Friedman, J. Polifka, 1994 .

The effects of drugs on the fetus and nursing infant : a handbook for health care professionals

J. Friedman, J. Polifka, 1998 .

Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects. Clinical Teratology Committee, Canadian College of Medical Geneticists.

J. Allanson, E. Andermann, F. Fraser, 1993, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

Stroke, orthostatic hypotension, and focal seizures.

J. Friedman, T. Riley, 1981, JAMA.

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

M. Khoury, R. Clarke, Ajay Yesupriya, 2012, The American journal of clinical nutrition.

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.

M. Gallagher, C. Sanders, J. Friedman, 2008, The American journal of clinical nutrition.

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

C. V. van Karnebeek, J. Jans, J. Friedman, 2019, Molecular genetics and metabolism.

A case of splenomegaly in CBL syndrome.

C. Ross, W. Wasserman, M. Tarailo-Graovac, 2017, European journal of medical genetics.

A novel recurrent mutation in ATP1A3 causes

C. Ross, M. Demos, C. Shyr, 2014 .

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study

L. Lynd, A. Lehman, A. Elliott, 2021, Journal of telemedicine and telecare.

Title: A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1 Authors:

M. Marra, A. Delaney, Á. Baross, 2007 .

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

Steven J. M. Jones, P. Ruben, G. Horvath, 2017, American journal of medical genetics. Part A.

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

L. Lynd, C. V. van Karnebeek, A. Lehman, 2018, Genetics in Medicine.

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

S. Rasmussen, A. Kenneson, J. Friedman, 2006, American journal of medical genetics. Part A.

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

R. Weksberg, L. Holmes, L. Wilkins-Haug, 2007, Fertility and sterility.

Comparing the ability of OPTION(12) and OPTION(5) to assess shared decision-making in genetic counselling.

J. Friedman, Stuart W. Grande, S. Adam, 2016, Patient education and counseling.

Teratology society: presentation to the FDA public meeting on safety issues associated with the use of dietary supplements during pregnancy.

J. Friedman, 2000, Teratology.

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

J. Friedman, 2009, Birth defects research. Part A, Clinical and molecular teratology.

The effects of neurologic and psychiatric drugs on the fetus and nursing infant : a handbook for health care professionals

J. Friedman, J. Polifka, 1998 .

Severe craniofacial sclerosis with multiple anomalies in a boy and his mother

J. Friedman, G. Currarino, 2006, Pediatric Radiology.

MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools

V. Mautner, S. Farschtschi, J. Salamon, 2020, Scientific Reports.

Teratology Society 1998 Public Affairs Committee Symposium: the new thalidomide era: dealing with the risks.

C. Kimmel, J. Friedman, 1999, Teratology.

Growth charts for young children with neurofibromatosis 1 (NF1)

J. Friedman, J. Szudek, P. Birch, 2000, American journal of medical genetics.

Maternal serum alpha-fetoprotein in pregnancy.

J. Friedman, D. Gilchrist, R. Wilson, 1990, American journal of obstetrics and gynecology.

The Sensitivity of Massively Parallel Sequencing for Detecting Candidate Infectious Agents Associated with Human Tissue

René L. Warren, Yongjun Zhao, Richard A. Moore, 2011, PloS one.

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)

J. Friedman, H. Joe, J. Szudek, 2002, Genetic epidemiology.

Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force

B. McManus, J. Epstein, B. Korf, 2002, Genetics in Medicine.

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array‐CGH

M Somerville, M. Somerville, S. Langlois, 2005, American journal of medical genetics. Part A.

Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.

J. Friedman, J. Hanson, C. B. Graham, 1978, Jornal de Pediatria.

Saethre-Chotzen syndrome: A broad and variable pattern of skeletal malformations

J. Friedman, J. Hanson, C. B. Graham, 1977 .

2.13 – Antineoplastic drugs

J. Friedman, Corinna Weber-Schöndorfer, 2015 .

Diagnostic criteria for schwannomatosis

E. A. Chiocca, A. Stemmer-Rachamimov, D. Evans, 2005, Neurology.

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

D. Fishman, B. Karlan, J. Brunet, 2000, American journal of human genetics.

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1

L. Kluwe, R. Friedrich, V. Mautner, 2006, Journal of Medical Genetics.

Genotype-phenotype correlations for cataracts in neurofibromatosis 2

D. Evans, R. Ramsden, M. Baser, 2003, Journal of medical genetics.

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

D. Evans, R. Ramsden, M. Baser, 2002, Neurology.

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

S. Rasmussen, L. Wong, J. Friedman, 2003, Pediatrics.

Umbilical dysmorphology. The importance of contemplating the Belly Button

J. Friedman, J. Friedman, 1985, Clinical genetics.

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

M. Moksa, C. Nislow, F. Zahir, 2019, Molecular genetics & genomic medicine.

Predictors of the risk of mortality in neurofibromatosis 2.

D. Evans, R. Ramsden, Dana Aeschliman, 2002, American journal of human genetics.

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

F. Zahir, J. Friedman, J. Friedman, 2007, Clinical genetics.

2.13 – Antineoplastic drugs

J. Friedman, Corinna Weber-Schöndorfer, 2015 .

Creation of an international registry to support discovery in schwannomatosis

David Evans, A. Stemmer-Rachamimov, B. Korf, 2017, American journal of medical genetics. Part A.

Improving the prediction of complex diseases by testing for multiple disease-susceptibility genes.

Muin J Khoury, Quanhe Yang, Lorenzo Botto, 2003, American journal of human genetics.

Evidence for multi-site closure of the neural tube in humans.

D. Chitayat, S. Langlois, D. Juriloff, 1993, American journal of medical genetics.

Addendum: sartan treatment during pregnancy.

J. Friedman, J. Polifka, S. Alwan, 2005, Birth defects research. Clinical and molecular teratology.

Pattern of cardiac malformation in oculoauriculovertebral spectrum.

Anil Kumar, M. Patterson, J. Friedman, 1993, American journal of medical genetics.

Potential human teratogenicity of frequently prescribed drugs

T H Shepard, J M Friedman, R. Brent, 1990 .

Clinical and genetic aspects of neurofibromatosis 1

Steven Z. Athanases, J. Friedman, P. Backhaus, 2010, Genetics in Medicine.

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

M. Marra, F. Zahir, S. Langlois, 2019, Journal of Human Genetics.

Teratogen update: azathioprine and 6-mercaptopurine.

J. Friedman, J. Polifka, 2002, Teratology.

Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)

R. Friedrich, V. Mautner, J. Friedman, 2008, Journal of Medical Genetics.

Management of Multiple Sclerosis During Pregnancy and the Reproductive Years: A Systematic Review

G. Koren, R. Bove, H. Tremlett, 2014, Obstetrics and gynecology.

The principles of teratology: are they still true?

J. Friedman, 2010, Birth defects research. Part A, Clinical and molecular teratology.

A different approach to validating screening assays for developmental toxicity.

A. Piersma, G. Daston, R. Chapin, 2010, Birth defects research. Part B, Developmental and reproductive toxicology.

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

S. Gabriel, K. Shianna, C. Walsh, 2012, American journal of human genetics.

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

M. Marra, K. Mungall, Hye-Jung E. Chun, 2017, BMC Genomics.

378-S: Maternal use of Selective Serotonin Re-Uptake Inhibitors and Risk for Birth Defects

S. Rasmussen, J. Reefhuis, J. Friedman, 2005 .