Marcia Willing

Marcia Willing

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Marcia Willing

Marcia Willing

Publications by authors named "Marcia Willing"

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

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

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

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

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

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

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

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288318PMC
December 2018

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

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genet Med 2017 09 2;19(9):1040-1048. Epub 2017 Mar 2.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2016.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581723PMC
September 2017

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

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

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

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

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

Am J Hum Genet 2016 09 18;99(3):728-734. Epub 2016 Aug 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011042PMC
September 2016

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

Am J Med Genet A 2016 08 29;170(8):2177-80. Epub 2016 Apr 29.

Missouri Baptist Medical Center, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37694DOI Listing
August 2016

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Am J Med Genet A 2016 Mar 24;170(3):583-93. Epub 2015 Nov 24.

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37445DOI Listing
March 2016

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.

Am J Med Genet A 2015 Dec 19;167A(12):2966-74. Epub 2015 Aug 19.

Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37296DOI Listing
December 2015

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

J Bone Joint Surg Am 2015 Sep;97(17):1411-7

Departments of Orthopaedic Surgery (G.H., D.M.A., K.H.B., M.K., L.G.L., S.J.L., C.A.G., and M.B.D.), Pediatrics (M.C.W. and C.A.G.), Cardiology (A.C.B.), and Neurology (C.A.G.), Washington University, 660 South Euclid Avenue, St. Louis, MO 63110. E-mail address for M.B. Dobbs:

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http://dx.doi.org/10.2106/JBJS.O.00290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551173PMC
September 2015

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

Hum Genet 2015 Feb 6;134(2):159-67. Epub 2014 Nov 6.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 De Soto Street, A300 Crabtree Hall, Pittsburgh, PA, 15261, USA,

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http://dx.doi.org/10.1007/s00439-014-1504-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293346PMC
February 2015

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

BMC Med Genet 2013 Oct 8;14:106. Epub 2013 Oct 8.

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St, Louis, MO 63110, USA.

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http://dx.doi.org/10.1186/1471-2350-14-106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852179PMC
October 2013

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

Am J Med Genet A 2012 Nov 28;158A(11):2767-74. Epub 2012 Sep 28.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.35362DOI Listing
November 2012

The microcephaly-capillary malformation syndrome.

Am J Med Genet A 2011 Sep 3;155A(9):2080-7. Epub 2011 Aug 3.

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/ajmg.a.34118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428374PMC
September 2011

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

Am J Med Genet A 2011 May 4;155A(5):1021-32. Epub 2011 Apr 4.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, USA.

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http://dx.doi.org/10.1002/ajmg.a.33892DOI Listing
May 2011

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

J Clin Densitom 2010 Oct-Dec;13(4):361-9. Epub 2010 Sep 20.

Department of Preventive and Community Dentistry, The University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1016/j.jocd.2010.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401562PMC
January 2011

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

Cardiovasc Res 2010 Dec 13;88(3):520-9. Epub 2010 Jul 13.

Department of Internal Medicine and Cardiothoracic and Vascular Surgery, University of Texas Medical School at Houston, MSB 6.100, 6431, Fannin St, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/cvr/cvq230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2972687PMC
December 2010

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

Med Sci Sports Exerc 2010 Jun;42(6):1072-8

Department of Health and Sport Studies, The University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1249/MSS.0b013e3181c619b2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874089PMC
June 2010

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

Community Dent Oral Epidemiol 2009 Oct;37(5):416-26

Department of Preventive and Community Dentistry, College of Dentistry, Carver College of Medicine, Iowa City, IA, USA.

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http://dx.doi.org/10.1111/j.1600-0528.2009.00478.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765810PMC
October 2009

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

Am J Prev Med 2009 Jul 7;37(1):35-40. Epub 2009 May 7.

Department of Health and Sport Studies, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1016/j.amepre.2009.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760597PMC
July 2009

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

J Pediatr 2006 Jun;148(6):793-9

Department of Health and Sport Studies, The University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1016/j.jpeds.2006.01.045DOI Listing
June 2006

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

J Clin Densitom 2005 ;8(1):39-47

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA.

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July 2005

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

Circulation 2005 Jul 18;112(4):513-20. Epub 2005 Jul 18.

Department of Internal Medicine, Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, TX, USA.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.105.537340DOI Listing
July 2005

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

Med Sci Sports Exerc 2004 Jul;36(7):1124-31

Health and Sport Studies, The University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1249/01.mss.0000132275.65378.9dDOI Listing
July 2004

Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.

J Cell Biochem 2004 May;92(1):113-24

Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.

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http://dx.doi.org/10.1002/jcb.20024DOI Listing
May 2004

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

J Clin Endocrinol Metab 2004 Feb;89(2):733-9

Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan 48104, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2003-030691DOI Listing
February 2004

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

Ann Emerg Med 2004 Jan;43(1):79-82

Division of Medical Genetics, Department of Internal Medicine, University of Texas Medical School at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1016/s0196-0644(03)00818-7DOI Listing
January 2004

Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.

Osteoporos Int 2003 Aug 22;14(8):650-8. Epub 2003 Jul 22.

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

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http://link.springer.com/10.1007/s00198-003-1416-1
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http://dx.doi.org/10.1007/s00198-003-1416-1DOI Listing
August 2003

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

Circulation 2003 Jul 23;107(25):3184-90. Epub 2003 Jun 23.

Department of Internal Medicine, University of Texas Medical School at Houston, USA.

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https://www.ahajournals.org/doi/10.1161/01.CIR.0000078634.33
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http://dx.doi.org/10.1161/01.CIR.0000078634.33124.95DOI Listing
July 2003

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

Prev Med 2002 Dec;35(6):563-71

Department of Health and Sport Studies, 102 FH, The University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1006/pmed.2002.1113DOI Listing
December 2002