| human | Q5 |
| P268 | Bibliothèque nationale de France ID | 134766611 |
| P227 | GND ID | 172770920 |
| P269 | IdRef ID | 035181486 |
| P213 | ISNI | 0000000083848517 |
| P244 | Library of Congress authority ID | n88211574 |
| P1207 | NUKAT ID | n97023581 |
| P496 | ORCID iD | 0000-0002-7482-9570 |
| P7293 | PLWABN ID | 9810533763305606 |
| P1153 | Scopus author ID | 57211774883 |
| P214 | VIAF ID | 56759564 |
| P69 | educated at | University of Washington | Q219563 |
| Tulane University | Q1193547 | ||
| P108 | employer | University of Washington | Q219563 |
| Northwestern University | Q309350 | ||
| University of British Columbia | Q391028 | ||
| University of Texas Health Science Center at Houston | Q7896431 | ||
| Child and Family Research Institute | Q30281748 | ||
| P734 | family name | Friedman | Q1451887 |
| Friedman | Q1451887 | ||
| Friedman | Q1451887 | ||
| P735 | given name | Jan | Q12173670 |
| Jan | Q12173670 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | male | Q6581097 |
| Q33441037 | A case of splenomegaly in CBL syndrome |
| Q51925830 | A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. |
| Q51895479 | A different approach to validating screening assays for developmental toxicity. |
| Q91168656 | A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8 |
| Q57386664 | A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies |
| Q37607672 | A novel recurrent mutation in ATP1A3 causes CAPOS syndrome |
| Q24302161 | A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha |
| Q46582221 | A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints |
| Q50796372 | ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects. |
| Q47315085 | ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. |
| Q44417078 | An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1. |
| Q55041085 | Analysis of NF1 transcriptional regulatory elements. |
| Q53311158 | Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). |
| Q57386723 | Analysis of neurofibromatosis 1 (NF1) lesions by body segment |
| Q57386881 | Anatomic correlates of ultrasonographic prenatal diagnosis |
| Q71758629 | Aneuploidy in germ cells: etiologies and risk factors |
| Q57386637 | Antineoplastic drugs |
| Q57386840 | Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome |
| Q38088574 | Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium |
| Q91934324 | Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation |
| Q90953470 | Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors |
| Q90394804 | Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions |
| Q37151995 | Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. |
| Q53576233 | Association between benign and malignant peripheral nerve sheath tumors in NF1. |
| Q50626567 | Association of Professors of Human or Medical Genetics: second annual workshop summary. |
| Q50623743 | Association of professors of human or medical genetics: summary of first annual workshop. |
| Q57266879 | Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1) |
| Q53236232 | Associations of osseous abnormalities in Neurofibromatosis 1. |
| Q42790157 | Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing |
| Q34145544 | BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer |
| Q45860563 | Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1. |
| Q45305832 | Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease |
| Q57386663 | Big risks in small groups: The difference between epidemiology and counselling |
| Q57386868 | Biochemical abnormalities in rhizomelic chondrodysplasia punctata |
| Q57386899 | Can maternal alcohol ingestion cause neural tube defects? |
| Q57386756 | Cardiac findings in an individual with neurofibromatosis 1 and sudden death |
| Q52223363 | Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7. |
| Q57386771 | Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1 |
| Q52607397 | Cerebrovasculopathy in NF1 associated with ocular and scalp defects. |
| Q40872596 | Chromosome abnormalities in human beings. |
| Q57386644 | Clinical Teratology |
| Q33520192 | Clinical and genetic aspects of neurofibromatosis 1. |
| Q38974157 | Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients |
| Q57386784 | Clinical objectives in medical genetics for undergraduate medical students |
| Q57386800 | Clinical teratology counseling and consultation report: High dose β-carotene use during early pregnancy |
| Q45734660 | Combined immunodeficiency associated with homozygous MALT1 mutations |
| Q57386631 | Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling |
| Q33856401 | Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation |
| Q41604058 | Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment |
| Q52087282 | Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. |
| Q33721903 | Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability. |
| Q57386835 | Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: Coincidence or clue? |
| Q28752220 | Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies |
| Q57386727 | ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors |
| Q50062472 | Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater! |
| Q49815156 | Controversy and debate on clinical genomics sequencing-paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau |
| Q53035106 | Creation of an international registry to support discovery in schwannomatosis. |
| Q57386634 | Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? |
| Q50510439 | DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing. |
| Q53853265 | Decreased bone mineral density in patients with neurofibromatosis 1. |
| Q52176565 | Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. |
| Q57386922 | Developmental Toxicology and Teratology |
| Q50583067 | Developmental toxicity of ribavirin/IFα combination therapy: Is the label more dangerous than the drugs? |
| Q38820760 | Different patterns of mast cells distinguish diffuse from encapsulated neurofibromas in patients with neurofibromatosis 1. |
| Q37154238 | Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists |
| Q46021985 | Drug safety in pregnant women and their babies: ignorance not bliss. |
| Q51862083 | Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. |
| Q57386889 | Early prenatal ultrasonic findings in klippel—trenaunay—weber syndrome |
| Q57386683 | Early primary tooth eruption in neurofibromatosis 1 individuals |
| Q57386627 | Editorial In Bed with The Devil: Recognizing Human Teratogenic Exposures |
| Q57386640 | Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study |
| Q36377691 | Emerging issues in teratology: an introduction |
| Q57266596 | Empirical development of improved diagnostic criteria for neurofibromatosis 2 |
| Q28199588 | Ensuring the safe and effective use of medications during pregnancy: planning and prevention through preconception care |
| Q41421380 | Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound. |
| Q57386837 | Eugenics and the "New Genetics" |
| Q53277818 | Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders. |
| Q57266780 | Evaluation of clinical diagnostic criteria for neurofibromatosis 2 |
| Q37902132 | Evolving knowledge of the teratogenicity of medications in human pregnancy. |
| Q37171865 | Exome Sequencing and the Management of Neurometabolic Disorders. |
| Q36439344 | Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome |
| Q47985149 | Exploring the "two-hit hypothesis" in NF2: tests of two-hit and three-hit models of vestibular schwannoma development. |
| Q41727419 | Exposure-based validation list for developmental toxicity screening assays |
| Q34000906 | FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project |
| Q37386039 | Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease |
| Q57386670 | Familial carcinoma of the pancreas |
| Q57386861 | Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs |
| Q57386876 | Fetal karyotype following ascertainment of fetal anomalies by ultrasound |
| Q57386902 | Genetic Misconceptions |
| Q52737236 | Genetic disease in the offspring of older fathers |
| Q57386888 | Genetic heterogeneity in spondyloepiphyseal dysplasia congenita |
| Q28397586 | Genetic mosaics and the germ line lineage |
| Q57386786 | Genetics in Medicine and informatics for the genetic clinician |
| Q57386641 | Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing |
| Q89081828 | Genome-wide sequencing in acutely ill infants: genomic medicine's critical application? |
| Q43074492 | Genotype-phenotype correlations for cataracts in neurofibromatosis 2. |
| Q57386764 | Growth charts for young children with neurofibromatosis 1 (NF1) |
| Q36473944 | Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. |
| Q30443016 | Growth in North American white children with neurofibromatosis 1 (NF1) |
| Q57386635 | Growth in neurofibromatosis 1 microdeletion patients |
| Q57386917 | HLA-B8 IN JUVENILE DERMATOMYOSITIS |
| Q57386905 | Hemifacial microsomia in cri du chat (5p-) syndrome |
| Q57386872 | Hepatocellular carcinoma in a child with familial Russell-Silver syndrome |
| Q44842468 | How do we know if an exposure is actually teratogenic in humans? |
| Q51968332 | How many genes underlie the occurrence of common complex diseases in the population? |
| Q24596489 | Human chromosome 7: DNA sequence and biology |
| Q52242128 | Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism. |
| Q57386887 | Immunogenetic studies of juvenile dermatomyositis. III. Study of antibody to organ-specific and nuclear antigens |
| Q46259179 | Immunogenetic studies of juvenile dermatomyositis: HLA-DR antigen frequencies. |
| Q34994757 | Impact of BRCA mutations on female fertility and offspring sex ratio |
| Q46988604 | Improvement in stroke mortality in Canada and the United States, 1990 to 2002. |
| Q57386685 | Increased dental caries in people with neurofibromatosis 1 |
| Q57266735 | Increasing the specificity of diagnostic criteria for schwannomatosis |
| Q57386636 | Individual DNA samples and health information sold by 23andMe |
| Q44610270 | Interpreting chromosomal abnormalities using Prolog. |
| Q50486035 | Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). |
| Q52675847 | Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes. |
| Q36089393 | Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)? |
| Q52256975 | Kallmann syndrome associated with choanal atresia. |
| Q56398210 | Key Implications of Data Sharing in Pediatric Genomics |
| Q39361988 | Letter: Inheritance of susceptibility to histocompatibility-associated disease |
| Q57386828 | Life-Threatening Status Asthmaticus at 12.5 Weeks’ Gestation |
| Q57386646 | Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome |
| Q57386780 | Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree |
| Q40944470 | Longitudinal studies of chromosomal abnomalities and reticulum cell proliferation in new zealand black mice |
| Q57386667 | Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas |
| Q42428340 | Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy |
| Q40506069 | Low risk of solid tumors in persons with Down syndrome |
| Q38270255 | Management of multiple sclerosis during pregnancy and the reproductive years: a systematic review. |
| Q57386650 | Massively Parallel Sequencing |
| Q24653648 | Massively parallel sequencing: the next big thing in genetic medicine |
| Q57386842 | Maternal serum α-tetoprotein in pregnancy |
| Q34166412 | Maternal treatment with opioid analgesics and risk for birth defects |
| Q43086513 | Maternal use of bupropion and risk for congenital heart defects |
| Q45234844 | Mild phenotypic abnormalities in combined del 9p2 and dup 3p2. |
| Q57386648 | Molecular Basis of Cardiovascular Abnormalities in NF1 |
| Q34020644 | Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. |
| Q64012839 | Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy |
| Q57386625 | Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy |
| Q38055484 | Myelodysplasia and leukemia syndrome with monosomy 7: a genetic perspective. |
| Q28142087 | NF1 gene and neurofibromatosis 1 |
| Q53391825 | National Neurofibromatosis Foundation International Database. |
| Q40944476 | Neoplastic behavior of chromosomally abnormal clones in New Zealand black mice |
| Q57386857 | Neuroblastoma in a child with Wiedemann-Beckwith syndrome |
| Q94994574 | Neurofibromatosis 1 |
| Q60944932 | Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1 |
| Q37645352 | Non-optic glioma in adults and children with neurofibromatosis 1. |
| Q24648305 | Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children |
| Q48409188 | OTIS special issue preface |
| Q45782914 | Occurrence of chickenpox during pregnancy in women seropositive for varicella-zoster virus. |
| Q37004762 | Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 |
| Q91159996 | PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights |
| Q51924160 | 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. |
| Q42688327 | Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing. |
| Q57386639 | Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard |
| Q43441417 | Patterns of antidepressant medication use among pregnant women in a United States population |
| Q52108893 | Patterns of associations of clinical features in neurofibromatosis 1 (NF1). |
| Q37222254 | Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey |
| Q57386816 | Physician and Patient Education |
| Q47998846 | Population-based analyses of mortality in trisomy 13 and trisomy 18. |
| Q37202827 | Predictors of the risk of mortality in neurofibromatosis 2 |
| Q36693437 | Pregnancy and postnatal outcome of mosaic isochromosome 20q. |
| Q27782421 | 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. |
| Q57386715 | Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment |
| Q57386658 | Prevalence of dental caries in children with neurofibromatosis 1 |
| Q37398084 | Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns |
| Q48561781 | Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults |
| Q53534584 | Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1. |
| Q57386910 | RAPIDLY ADHERING AMNIOTIC-FLUID CELLS AND PRENATAL DIAGNOSIS OF NEURAL-TUBE DEFECTS |
| Q92575437 | RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges |
| Q48173840 | 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. |
| Q57386878 | ReCAP: The registry of cytogenetic abnormalities and phenylketonuria |
| Q28204015 | Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family |
| Q56379981 | Reply |
| Q36155827 | Reproduction and transplantation: report on the AST Consensus Conference on Reproductive Issues and Transplantation |
| Q33933299 | S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas |
| Q44580295 | Safe lists for medications in pregnancy: inadequate evidence base and inconsistent guidance from Web-based information, 2011. |
| Q38823790 | Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence |
| Q37500500 | Safety of selective serotonin reuptake inhibitors in pregnancy |
| Q55253583 | Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1. |
| Q33620872 | Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes |
| Q51926007 | Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. |
| Q30979346 | Specific SSRIs and birth defects: Bayesian analysis to interpret new data in the context of previous reports |
| Q24656970 | Structural variation of chromosomes in autism spectrum disorder |
| Q39508618 | Studies of the HLA Complex in Families of Children with Congenital Heart Disease |
| Q57386718 | Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients |
| Q34124884 | Teratogen update: azathioprine and 6-mercaptopurine. |
| Q88931779 | The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia |
| Q52311125 | The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. |
| Q35848496 | The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists |
| Q50195466 | The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study |
| Q53107807 | The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study. |
| Q36938711 | The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility. |
| Q57039924 | The importance of genetic counselling in genome-wide sequencing |
| Q35448670 | The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. |
| Q51902017 | The principles of teratology: are they still true? |
| Q33908561 | The sensitivity of massively parallel sequencing for detecting candidate infectious agents associated with human tissue |
| Q35627964 | The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. |
| Q53011168 | Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: an analysis of multiple cause mortality data. |
| Q53359692 | Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. |
| Q34123327 | Update on new developments in the study of human teratogens. |
| Q44323775 | Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects |
| Q53338463 | Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. |
| Q51846603 | Using genomics for birth defects epidemiology: can epigenetics cut the GxE Gordian knot? |
| Q33847214 | Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability |
| Q51171580 | Valuing gene testing in children with possible neurofibromatosis 1. |
| Q57386750 | Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study |
| Q57386921 | Viral “Tumorigenesis” in man: Cell markers incondylomata acuminata |
| Q36927083 | Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1. |
| Q114600128 | White matter is increased in the brains of adults with neurofibromatosis 1 |
| Q52040270 | Williams syndrome in adults. |
| Q53915282 | Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation. |
| Q57386687 | Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility |
| Q57386647 | “I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing |
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