M. Willing

发表

Fatness, physical activity, and television viewing in children during the adiposity rebound period: the Iowa Bone Development Study.

J. Torner, T. Burns, S. Levy, 2002, Preventive medicine.

Everyday activity predicts bone geometry in children: the iowa bone development study.

J. Torner, T. Burns, S. Levy, 2004, Medicine and science in sports and exercise.

Subjective and objective measures of physical activity in relationship to bone mineral content during late childhood: the Iowa Bone Development Study

J. Torner, E. Letuchy, T. Burns, 2008, British Journal of Sports Medicine.

Early physical activity provides sustained bone health benefits later in childhood.

Kathleen F Janz, J. Torner, E. Letuchy, 2009, Medicine and science in sports and exercise.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

W. Chung, Yufeng Shen, A. Telegrafi, 2016, American journal of human genetics.

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

W. Cole, R. Wenstrup, M. Willing, 2000, American journal of human genetics.

Bone Mineral Density and Its Change in White Women: Estrogen and Vitamin D Receptor Genotypes and Their Interaction

C. Bunten, M. Crutchfield, M. Jannausch, 1998, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European journal of human genetics : EJHG.

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

J. Coselli, S. Lemaire, K. Peterson, 2009, Journal of Medical Genetics.

A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I)

W. Cole, R. Wenstrup, M. Willing, 1996 .

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.

K. Michalickova, W. Cole, R. Wenstrup, 1998, Human molecular genetics.

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).

W. Cole, R. Wenstrup, M. Willing, 1996, Human molecular genetics.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

J. Coselli, S. Lemaire, J. Towbin, 2010, European journal of medical genetics.

Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) to 3p24–25

S. Scherer, S. Shete, D. Milewicz, 2003, Circulation.

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

Robert K. Yu, E. Boerwinkle, J. Grotta, 2009, American journal of human genetics.

Mutations in Transforming Growth Factor-&bgr; Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections

S. Shete, D. Milewicz, P. Giampietro, 2005, Circulation.

Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections.

D. Milewicz, E. Petty, M. Willing, 1998, The American journal of cardiology.

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (vol 39, pg 1488, 2007)

Robert K. Yu, S. Shete, D. Milewicz, 2008 .

Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Robert K. Yu, S. Shete, D. Milewicz, 2007, Nature Genetics.

Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Robert K. Yu, S. Shete, D. Milewicz, 2008, Nature Genetics.

Physical activity augments bone mineral accrual in young children: The Iowa Bone Development study.

J. Torner, T. Burns, S. Levy, 2006, The Journal of pediatrics.

Percentile distributions of bone measurements in Iowa children: the Iowa Bone Development Study.

J. Torner, T. Burns, S. Levy, 2005, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

V. Sheffield, T. Wassink, S. Patil, 2012, American journal of medical genetics. Part A.

Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proα1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta

P. Byers, M. Willing, J. M. Pace, 2001, Journal of medical genetics.

Regulation of human globin gene expression in mouse erythroleukemia × human fibroblast hybrid cells

W. Anderson, N. Young, M. Willing, 1982, Somatic cell genetics.

Regulation of Human Globin Gene Expression after Gene Transfer

W. Anderson, A. Nienhuis, E. G. Diacumakos, 1981 .

Genetic and Environmental Factors Associated with Dental Caries in Children: The Iowa Fluoride Study

M. Marazita, S. Levy, J. Warren, 2012, Caries Research.

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

M. Adam, K. Keppler-Noreuil, M. Willing, 2011, American journal of medical genetics. Part A.

Maintenance of hemoglobin inducibility in somatic cell hybrids of tetraploid (2S) mouse erythroleukemia cells with mouse or human fibroblasts

D. Axelrod, M. Willing, T. V. Gopalakrishnan, 1978, Somatic cell genetics.

Determinants of bone mineral density in postmenopausal white Iowans.

J. Torner, T. Burns, M. Willing, 1997, The journals of gerontology. Series A, Biological sciences and medical sciences.

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

R. Taft, M. Shinawi, S. Dahiya, 2021, American journal of medical genetics. Part A.

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.

M. Willing, R. Slayton, S. Deschenes, 2000, Matrix biology : journal of the International Society for Matrix Biology.

Effects of enamel matrix genes on dental caries are moderated by fluoride exposures

S. Reis, B. Maher, M. Marazita, 2015, Human Genetics.

Osteogenesis Imperfecta Type 1: Molecular Heterogeneity for COL I A I Null Alleles of Type I Collagen

P. Byers, M. Willing, R. Slayton, 2007 .

Osteogenesis imperfecta: translation of mutation to phenotype.

P. Byers, M. Willing, G. Wallis, 1991, Journal of medical genetics.

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

P. Byers, M. Willing, D. Scott, 1994, American journal of human genetics.

Associations of fluoride intake with children's bone measures at age 11.

J. Torner, E. Letuchy, T. Burns, 2009, Community dentistry and oral epidemiology.

Heterogeneous basis of the type VIB form of Ehlers–Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation

G. Pals, M. Yamauchi, M. Willing, 2004, American journal of medical genetics. Part A.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

M. Bihoreau, J. Laplanche, G. Captier, 2019, Genetics in Medicine.

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

P. Byers, D. Cohn, M. Willing, 1990, The Journal of clinical investigation.

PHYSICAL ACTIVITY PREDICTS BONE MEASURES IN YOUNG CHILDREN

J. Torner, T. Burns, S. Levy, 2001 .

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

S. Kulkarni, M. Shinawi, D. Grange, 2016, American journal of medical genetics. Part A.

Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity a

P. Byers, J. Bonadio, R. Wenstrup, 1988, Annals of the New York Academy of Sciences.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

W. Chung, J. Mulliken, R. Helaers, 2017, Circulation.

The microcephaly‐capillary malformation syndrome

W. Dobyns, G. Mirzaa, C. Smyser, 2011, American journal of medical genetics. Part A.

Selective activation of human β - but not γ-globin gene in human fibroblast × mouse erythroleukaemia cell hybrids

W. Anderson, A. Nienhuis, M. Willing, 1979, Nature.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

K. Schwarz, T. Giese, R. Lifton, 2017, The Journal of clinical investigation.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, American journal of human genetics.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.

A. Goate, Carlos Cruchaga, Ping Yang, 2016, Human molecular genetics.

Sustained effect of early physical activity on body fat mass in older children.

J. Torner, E. Letuchy, T. Burns, 2009, American journal of preventive medicine.

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome

M. Willing, J. Wambach, Caroline K. Lee, 2015, American journal of medical genetics. Part A.

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Carlos Cruchaga, J. Buchan, J. Morcuende, 2014, Human molecular genetics.

Rare variants in FBN 1 and FBN 2 are associated with severe adolescent idiopathic scoliosis

Carlos Cruchaga, J. Buchan, J. Morcuende, 2014 .

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European Journal of Human Genetics.

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

Bradley L Schlaggar, Amy Robichaux-Viehoever, B. Schlaggar, 2016, Pediatric neurology.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

P. Byers, R. Wenstrup, M. Willing, 1990, American journal of human genetics.

Genetic Association of MMP10, MMP14, and MMP16 with Dental Caries

S. Reis, B. Maher, M. Marazita, 2017, International journal of dentistry.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

P. Cliften, E. van Meel, S. Kornfeld, 2013, BMC Medical Genetics.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

J. Shendure, D. Nickerson, S. Leal, 2015, American journal of human genetics.

The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

Dustin Baldridge, Marwan Shinawi, M. Shinawi, 2017, Genetics in Medicine.

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

L. Lenke, K. Bridwell, S. Luhmann, 2015, The Journal of bone and joint surgery. American volume.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Gene polymorphisms, bone mineral density and bone mineral content in young children:the Iowa bone development study

J. Torner, T. Burns, S. Levy, 2003, Osteoporosis International.

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.

M. Willing, R. Slayton, S. Deschenes, 1995, Journal of medical genetics.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

D. Nickerson, Martin Kircher, M. Bamshad, 2018, American journal of human genetics.

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

M. Willing, R. Slayton, M C Willing, 1996, American journal of human genetics.

TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.

D. Milewicz, J. Carey, M. Hannibal, 2010, Cardiovascular research.

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

D. Roden, H. Dietz, B. Gelb, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

P. Byers, K. Holbrook, C. Greenberg, 1988, The Journal of biological chemistry.

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

P. Byers, M. Willing, C. Pruchno, 1992, American journal of human genetics.

Selective activation of human beta-but not gamma-globin gene in human fibroblast x mouse erythroleukaemia cell hybrids.

W. Anderson, A. Nienhuis, M. Willing, 1979, Nature.

Reduced type I collagen utilization: A pathogenic mechanism in COL5A1 haplo‐insufficient Ehlers–Danlos syndrome

W. Cole, R. Wenstrup, M. Willing, 2004, Journal of cellular biochemistry.

Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries

S. Reis, B. Maher, M. Marazita, 2016, Journal of Human Genetics.

Effects of enamel matrix genes on dental caries are moderated by fluoride exposures

S. Reis, B. Maher, M. Marazita, 2015, Human Genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Pregnancy after aortic root replacement in Loeys–Dietz syndrome: High risk of aortic dissection

N. Kouchoukos, M. Moon, M. Willing, 2016, American journal of medical genetics. Part A.

Estrogen receptor genotypes and their association with the 10-year changes in bone mineral density and osteocalcin concentrations.

M. Jannausch, M. Willing, M. Sowers, 2004, The Journal of clinical endocrinology and metabolism.

Osteocalcin: genetic and physical mapping of the human gene BGLAP and its potential role in postmenopausal osteoporosis.

J. Torner, T. Burns, B. Schutte, 1999, Genomics.

Genetic Markers, Bone Mineral Density, and Serum Osteocalcin Levels

M. Crutchfield, M. Jannausch, M. Willing, 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Vitamin D receptor genotype and risk of osteoporotic hip fracture in elderly women of Utah: an effect modified by parity

D. R. Cutler, R. Munger, M. Willing, 2006, Osteoporosis International.

Fatness, Physical Activity, and Television Viewing in Children during the Adiposity Rebound Period: The Iowa Bone Development Study

Trudy L. Burns, Kathleen F. Janz, James C. Torner, 2002 .

Molecular heterogeneity in osteogenesis imperfecta type I.

P. Byers, M. Willing, C. Pruchno, 1993, American journal of medical genetics.

General Strategies for Isolating the Genes Encoding Type I Collagen and for Characterizing Mutations Which Produce Osteogenesis Imperfecta a

P. Byers, J. Bonadio, R. Wenstrup, 1988, Annals of the New York Academy of Sciences.

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen

P. Byers, D. Cohn, M. Willing, 2005, Human Genetics.

Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families.

D. Milewicz, M. Lewin, M. Willing, 2004, Annals of emergency medicine.

Genome-wide Association Scan for Childhood Caries Implicates Novel Genes

D. Weeks, K. Doheny, E. Pugh, 2011, Journal of dental research.

Genetic Association of MPPED2 and ACTN2 with Dental Caries

E. Feingold, S. Levy, D. McNeil, 2014, Journal of dental research.

Ectopia lentis in Loeys‐Dietz syndrome type 4

M. Willing, S. Khanna, K. Blinder, 2020, American journal of medical genetics. Part A.

Physical activity and bone measures in young children: the Iowa bone development study.

J. Torner, T. Burns, S. Levy, 2001, Pediatrics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Deletions and duplications of Gly‐Xaa‐Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

P. Byers, M. Willing, J. M. Pace, 2001, Human mutation.

A hip analysis protocol for pediatric bone densitometry: the Iowa Bone Development Study.

J. Torner, E. Letuchy, T. Burns, 2010, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

Premature ChainTermination Isa Unifying Mechanism forCOL1Al NullAlleles inOsteogenesis Imperfecta TypeICellStrains

M. Willing, R. Slayton, J. Roberts, 1996 .

Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Timothy B Sackton, Jay D. Evans, Jay D Evans, 2007, Nature Genetics.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

J. Shendure, D. Nickerson, S. Leal, 2015, American journal of human genetics.

59th ORCA Congress. June 27–30, 2012, Cabo Frio, Brazil

Brian J. Smith, E. Bernabé, W. Marcenes, 2012, Caries Research.

Sustained effect of early physical activity on body fat mass in older children.

J. Torner, E. Letuchy, T. Burns, 2009, American journal of preventive medicine.