Dr. Richard M Pauli MD PHD
Geneticist | Clinical Genetics (M.D.)1500 Highland Ave Madison WI, 53705
Dr. Richard Pauli practices Genetic Medicine in Madison, WI. As a geneticist, Dr. Pauli performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Pauli carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
Univ of Chicago, Pritzker Sch of Med, Chicago Il 1975
University of Chicago Division of the Biological Sciences The Pritzker School of Medicine 1975
Medical GeneticsAmerican Board of Medical GeneticsABMG
- Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission.
- Jugular bulb dehiscence in achondroplasia.
- Ventricular noncompaction and distal chromosome 5q deletion.
- Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
- Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
- Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
- Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.
- Absence of correlation between infantile hypotonia and foramen magnum size in
- Costs and consequences of comprehensive stillbirth assessment.
- Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.
- Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.
- X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
- Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling.
- Natural history of rhizomelic chondrodysplasia punctata.
- Double heterozygosity in bone growth disorders: four new observations and review.
- Head circumference of children with Down syndrome (0-36 months)
- Spondylometaphyseal dysplasia with cone-rod dystrophy.
- Further evidence that arthrogryposis multiplex congenita in the human sometimes is caused by an intrauterine vascular accident.
- Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
- An analysis of PAX1 in the development of vertebral malformations.
- Vesicoureteric reflux in sibships.
- Pre- and postnatal findings in trisomy 17 mosaicism.
- Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes.
- The natural histories of bone dysplasias in adults--vignettes, fables and just-so stories.
- Absence of predictable phenotypic expression in proximal 15q duplications.
- Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.
- A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
- Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
- Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth.
- Stillbirth: fetal disorders.
- Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
- Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and
- The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
- Fetal disruptions: assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a community-based stillbirth assessment program.
- Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.
- Temperament in Williams syndrome.
- Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
- Respiratory complications in children with spondyloepiphyseal dysplasia congenita.
- Airway malacia in children with achondroplasia.
- Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
- An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.
- Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
- Optic atrophy, hearing loss, and peripheral neuropathy.
- Letter to the editor: Response to two recent articles regarding achondroplasia.
- Syringomyelia in hereditary multiple exostosis.
- Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)
- Nonrandom association of a type II procollagen genotype with achondroplasia.
- Tracheomalacia and bronchomalacia associated with Larsen syndrome.
- Mechanism of bone and cartilage maldevelopment in the warfarin embryopathy.
- Intrauterine varicella infection.
- Major limb malformations following intrauterine exposure to ethanol: two additional cases and literature review.
- Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome.
- Dominantly inherited renal adysplasia.
- Mosaic isochromosome 12p.
- Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation.
- Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
- Foramen magnum stenosis in homozygous achondroplasia.
- Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards.
- Hand-reduction malformations: genetic and syndromic analysis.
- Proliferation of human peripheral lymphocytes. Characteristics of cells once stimulated or re-stimulated by concanavalin A.
- Receptor sites for concanavalin A on human peripheral lymphocytes and on lymphoblasts grown in long-term culture.
- Proliferation of stimulated human peripheral blood lymphocytes: preferential incorporation of concanavalin A by stimulated cells and mitogenic activity.
- Circularity of yeast mitochondrial DNA.
- Sensorineural deafness and peripheral neuropathy.
- Achondroplasia: unexpected familial recurrence.
- A human lymphoblastoid cell line from the offspring of a brother-sister mating.
- Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening.
- 'Expanded' Prader-Willi syndrome in a boy with an unusual 15q chromosome deletion.
- Dominance and homozygosity in man.
- Goldenhar association and cranial defects.
- Ethical judgments and medical evidence.
- Maternal and fetal sequelae of anticoagulation during pregnancy.
- Gardner syndrome and periampullary malignancy.
- Limb deficiency and splenogonadal fusion.
- Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation.
- Agnathia, situs inversus, and associated malformations.
- Risk counselling in autosomal dominant disorders with undetermined penetrance.
- Lip pits, cleft lip and/or palate, and congenital heart disease.
- Risks of anticoagulation during pregnancy.
- Patterson-Lowry rhizomelic dysplasia: a possible second example.
- Surgical intervention in achondroplasia.
- Lower mesodermal defects: a common cause of fetal and early neonatal death.
- Cranial nerve abnormalities in CHARGE association.
- Evaluation of the effectiveness of a teratogen information service: a survey of patient and professional satisfaction.
- Temporal evolution of risk estimates for presumed human teratogens.
- Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems.
- Errors in the prenatal diagnosis of children with achondroplasia.
- Warfarin embryopathy.
- Warfarin embryopathy.
- Fine mapping of the nail-patella syndrome locus at 9q34.
- Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome.
- Long-term survival in typical thanatophoric dysplasia type 1.
- Unexpected familial recurrence in Angelman syndrome.
- Biophysical bases for delayed and aberrant motor development in young children with achondroplasia.
- Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.
- Frontonasal malformation and deletion of 22q11.
- Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations.
- University of Washington Program
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