Louanne Hudgins

Louanne Hudgins

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Louanne Hudgins

Publications by authors named "Louanne Hudgins"

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Annemarie Sommer memorial.

Authors:
Louanne Hudgins

Am J Med Genet A 2019 Sep 18;179(9):1689-1690. Epub 2019 Jul 18.

Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.61287DOI Listing
September 2019

Prenatally diagnosed omphalocele: characteristics associated with adverse neonatal outcomes.

J Perinatol 2019 Aug 21;39(8):1111-1117. Epub 2019 Jun 21.

Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA, 94304, USA.

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http://dx.doi.org/10.1038/s41372-019-0410-1DOI Listing
August 2019

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Am J Med Genet A 2018 12 18;176(12):2887-2891. Epub 2018 Nov 18.

Department of Pediatrics, Division of Medical Genetics, Stanford University Medical Center, Stanford, California.

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http://doi.wiley.com/10.1002/ajmg.a.40647
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http://dx.doi.org/10.1002/ajmg.a.40647DOI Listing
December 2018

Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.

Clin Chem 2018 02 2;64(2):336-345. Epub 2017 Nov 2.

Department of Bioengineering, Stanford University, Stanford, CA;

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http://dx.doi.org/10.1373/clinchem.2017.278101DOI Listing
February 2018

Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.

Prenat Diagn 2018 02;38(3):160-165

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1002/pd.5216DOI Listing
February 2018

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

Am J Med Genet A 2017 Dec 8;173(12):3221-3225. Epub 2017 Sep 8.

Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.38415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685880PMC
December 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

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

Am J Med Genet A 2017 08 24;173(8):2007-2073. Epub 2017 May 24.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://doi.wiley.com/10.1002/ajmg.a.38229
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http://dx.doi.org/10.1002/ajmg.a.38229DOI Listing
August 2017

A Multifaceted Mentoring Program for Junior Faculty in Academic Pediatrics.

Teach Learn Med 2016 Jul-Sep;28(3):320-8. Epub 2016 Apr 7.

a Department of Pediatrics , Stanford University School of Medicine , Stanford , California , USA.

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http://dx.doi.org/10.1080/10401334.2016.1153476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5003054PMC
April 2017

Respiratory system involvement in Costello syndrome.

Am J Med Genet A 2016 07 22;170(7):1849-57. Epub 2016 Apr 22.

Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.37655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509842PMC
July 2016

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

Am J Med Genet A 2016 Jul 27;170(7):1665-726. Epub 2016 Apr 27.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37600DOI Listing
July 2016

Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period.

J Ultrasound Med 2016 Jun 9;35(6):1353-8. Epub 2016 May 9.

Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California USADepartment of Pathology, Stanford University School of Medicine, Stanford, California USA.

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http://dx.doi.org/10.7863/ultra.15.02050DOI Listing
June 2016

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

Am J Med Genet A 2016 Apr 21;170A(4):891-5. Epub 2015 Dec 21.

Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.37491DOI Listing
April 2016

Patient preferences for prenatal testing of microdeletion and microduplication syndromes.

Prenat Diagn 2016 Mar 27;36(3):244-51. Epub 2016 Jan 27.

Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.

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http://dx.doi.org/10.1002/pd.4760DOI Listing
March 2016

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

Obstet Gynecol 2015 Oct;126(4):753-9

California Department of Public Health, Genetic Disease Screening Program, Richmond, the Department of Pediatrics, University of California, San Diego, La Jolla, California; the Departments of Epidemiology and Biostatistics and Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, the Division of Medical Genetics, Stanford University, Stanford, California, and Maternal Fetal Care and Genetics, University of California, San Diego, San Diego, California.

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http://dx.doi.org/10.1097/AOG.0000000000001040DOI Listing
October 2015

Knowledge, understanding, and uptake of noninvasive prenatal testing among Latina women.

Prenat Diagn 2015 Aug 21;35(8):748-53. Epub 2015 May 21.

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1002/pd.4599DOI Listing
August 2015

Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.

Am J Med Genet A 2015 Apr 23;167A(4):882-5. Epub 2015 Feb 23.

Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.

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http://dx.doi.org/10.1002/ajmg.a.37024DOI Listing
April 2015

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Am J Hum Genet 2015 Mar 26;96(3):498-506. Epub 2015 Feb 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375619PMC
March 2015

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

J Clin Endocrinol Metab 2015 Feb 10;100(2):E333-44. Epub 2014 Nov 10.

Departments of Human Genetics (R.M.B., V.A.A., H.B., A.E., S.F.N., E.D., E.V.) and Pathology and Laboratory Medicine (V.A.A., H.L., S.F.N.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095; Department of Pediatrics (M.P.A.), University of Washington, Seattle, Washington 98195; Department of Endocrinology (P.Y.F.), Seattle Children's Hospital, Seattle, Washington 98105; Nassau University Medical Center (R.B.), East Meadow, New York 11554; Departments of Pediatrics and Human Genetics (C.K.), Ann Arbor, Michigan 48109; The Children's Hospital Colorado (S.T.), Aurora, Colorado 80045; Division of Medical Genetics (S.S., L.H.), Stanford University, Lucile Packard Children's Hospital, Stanford, California 94305; TriStar Children's Specialists (R.P.M.), Nashville, Tennessee 37203; Division of Pediatric Genetics and Metabolism (H.J.S., R.Z.), University of Florida, Gainesville, Florida 32610; Cedars-Sinai Medical Center (O.K.G.), Los Angeles, California 90048; Children's Hospital of Los Angeles (L.R.-P.), Los Angeles, California 90027; and Departments of Pediatrics (A.P.-H., E.D., E.V.) and Urology (E.V.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095.

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http://dx.doi.org/10.1210/jc.2014-2605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318895PMC
February 2015

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Am J Med Genet A 2014 Nov 22;164A(11):2814-21. Epub 2014 Sep 22.

Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.36737DOI Listing
November 2014

Attitudes of mothers of children with down syndrome towards noninvasive prenatal testing.

J Genet Couns 2014 Oct 1;23(5):805-13. Epub 2014 Feb 1.

Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, H315, Stanford, CA, 94305-5208, USA.

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http://dx.doi.org/10.1007/s10897-014-9694-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119092PMC
October 2014

Clinical whole-exome sequencing: are we there yet?

Genet Med 2014 Sep 13;16(9):717-9. Epub 2014 Feb 13.

Division of Medical Genetics, Stanford University Medical Center, Stanford, California, USA.

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http://dx.doi.org/10.1038/gim.2014.10DOI Listing
September 2014

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

Am J Med Genet A 2014 Aug 6;164A(8):2097-103. Epub 2014 May 6.

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.36598DOI Listing
August 2014

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.

Genet Med 2014 Jul 9;16(7):564-7. Epub 2014 Jan 9.

1] Department of Bioengineering, Stanford University, Stanford, California, USA [2] Department of Applied Physics, Stanford University, Stanford, California, USA [3] Howard Hughes Medical Institute, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1038/gim.2013.194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079742PMC
July 2014

Conservatively managed fetal goiter: an alternative to in utero therapy.

Fetal Diagn Ther 2013 31;34(3):184-7. Epub 2013 Jul 31.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Stanford, Calif., USA.

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http://dx.doi.org/10.1159/000353387DOI Listing
June 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

NIPT in a clinical setting: an analysis of uptake in the first months of clinical availability.

J Genet Couns 2014 Feb 31;23(1):72-8. Epub 2013 May 31.

Perinatal Genetic Counseling Clinic, Lucile Packard Children's Hospital at Stanford, 300 Pasteur Drive, Room HF306C, Stanford, CA, 94305, USA,

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http://dx.doi.org/10.1007/s10897-013-9609-zDOI Listing
February 2014

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Am J Med Genet A 2014 Jan 20;164A(1):120-8. Epub 2013 Nov 20.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4443488PMC
January 2014

Whole-exome/genome sequencing and genomics.

Pediatrics 2013 Dec;132(Suppl 3):S211-5

FAAP, FACMG, Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine/Lucile Packard Children's Hospital, 300 Pasteur Dr, H315, Stanford, CA 94305-5208.

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http://dx.doi.org/10.1542/peds.2013-1032EDOI Listing
December 2013

The decision to continue a pregnancy affected by Down syndrome: timing of decision and satisfaction with receiving a prenatal diagnosis.

J Genet Couns 2013 Oct 21;22(5):587-93. Epub 2013 Apr 21.

Department of Genetics, Stanford University, Stanford, CA, USA,

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http://dx.doi.org/10.1007/s10897-013-9590-6DOI Listing
October 2013

Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.

Am J Med Genet A 2013 Jun 23;161A(6):1386-9. Epub 2013 Apr 23.

Division of Pediatric Cardiology, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.35864DOI Listing
June 2013

Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities.

J Genet Couns 2013 Apr 23;22(2):238-48. Epub 2012 Sep 23.

Stanford University Perinatal Genetics, Stanford, CA, USA.

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http://link.springer.com/10.1007/s10897-012-9539-1
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http://dx.doi.org/10.1007/s10897-012-9539-1DOI Listing
April 2013

Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?

Am J Med Genet A 2012 Sep 7;158A(9):2328-35. Epub 2012 Aug 7.

Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.

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http://dx.doi.org/10.1002/ajmg.a.35536DOI Listing
September 2012

Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors.

Hum Genet 2012 Jul 28;131(7):1115-22. Epub 2011 Dec 28.

Department of Genetics, Stanford University School of Medicine/Lucile Packard Children's Hospital, 300 Pasteur Drive, Boswell Building A097, Stanford, CA 94304, USA.

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http://dx.doi.org/10.1007/s00439-011-1126-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841976PMC
July 2012

Consanguinity and the risk of congenital heart disease.

Am J Med Genet A 2012 May 9;158A(5):1236-41. Epub 2012 Apr 9.

Division of Medical Genetics, Department of Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1002/ajmg.a.35272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331952PMC
May 2012

What is your diagnosis? Trichorhinophalangeal syndrome type I.

Cutis 2012 Feb;89(2):56, 73-4

Department of Dermatology, Stanford University School of Medicine, California, USA.

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February 2012

Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake.

Prenat Diagn 2011 Dec 26;31(13):1292-9. Epub 2011 Oct 26.

Department of Genetics, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1002/pd.2888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3225485PMC
December 2011

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Am J Med Genet A 2011 Nov 19;155A(11):2661-8. Epub 2011 Sep 19.

Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.34245DOI Listing
November 2011

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.

Am J Med Genet A 2011 Oct 9;155A(10):2534-7. Epub 2011 Sep 9.

Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.34197DOI Listing
October 2011

Familial cardiac valvulopathy due to filamin A mutation.

Am J Med Genet A 2011 Sep 3;155A(9):2236-41. Epub 2011 Aug 3.

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.34132DOI Listing
September 2011

Medical and graduate students' attitudes toward personal genomics.

Genet Med 2011 May;13(5):400-8

Department of Genetics, Stanford Center for Biomedical Ethics, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820562f6DOI Listing
May 2011

Nuchal translucency measurement in fetuses with spinal muscular atrophy.

Prenat Diagn 2011 Apr 1;31(4):327-30. Epub 2011 Feb 1.

Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1002/pd.2646DOI Listing
April 2011

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Hum Mutat 2011 Apr 8;32(4):E2069-78. Epub 2011 Feb 8.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.21457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429868PMC
April 2011

Prenatal genetic screening and diagnosis for pediatricians.

Curr Opin Pediatr 2010 Dec;22(6):809-13

Department of Pediatrics, the University of Arizona College of Medicine, Tucson, Arizona 85724-5073, USA.

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http://dx.doi.org/10.1097/MOP.0b013e32833f5f6eDOI Listing
December 2010

Clues to an early diagnosis of Kallmann syndrome.

Am J Med Genet A 2010 Nov;152A(11):2796-801

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.33442DOI Listing
November 2010

Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.

J Craniofac Surg 2010 Sep;21(5):1346-9

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305, USA.

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http://dx.doi.org/10.1097/SCS.0b013e3181ef2babDOI Listing
September 2010

Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing.

Clin Chem 2010 Aug 17;56(8):1279-86. Epub 2010 Jun 17.

Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1373/clinchem.2010.144188DOI Listing
August 2010

Challenges in the clinical application of whole-genome sequencing.

Lancet 2010 May 29;375(9727):1749-51. Epub 2010 Apr 29.

Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1016/S0140-6736(10)60599-5DOI Listing
May 2010

Partial ATRX gene duplication causes ATR-X syndrome.

Am J Med Genet A 2009 Oct;149A(10):2317-20

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1002/ajmg.a.33006DOI Listing
October 2009

Preaxial hallucal polydactyly as a marker for diabetic embryopathy.

Birth Defects Res A Clin Mol Teratol 2009 Jan;85(1):13-9

Emory University School of Medicine, Atlanta, Georgia 30033, USA.

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http://dx.doi.org/10.1002/bdra.20503DOI Listing
January 2009

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.

Proc Natl Acad Sci U S A 2008 Oct 6;105(42):16266-71. Epub 2008 Oct 6.

Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, 318 Campus Drive, Clark Center, Room E300, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1073/pnas.0808319105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562413PMC
October 2008

Use of array-based technology in the practice of medical genetics.

Genet Med 2007 Sep;9(9):650-3

Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1097GIM.0b013e31814cec3aDOI Listing
September 2007

Clinical features and management issues in Mowat-Wilson syndrome.

Am J Med Genet A 2006 Dec;140(24):2730-41

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/ajmg.a.31530DOI Listing
December 2006

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.

Am J Med Genet A 2006 Jul;140(14):1567-72

Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.

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http://dx.doi.org/10.1002/ajmg.a.31258DOI Listing
July 2006

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.

Am J Med Genet A 2006 Jan;140(2):170-3

Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.31036DOI Listing
January 2006

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders.

Genet Med 2006 Jan;8(1):50-4

Division of Medical Genetics, Department of Pediatrics, Stanford University, 300 Pasteur Drive, H-315, Stanford, CA 94305, USA.

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http://dx.doi.org/10.109701.gim.0000195304.45116.96DOI Listing
January 2006

Terminal deletion of 6p results in a recognizable phenotype.

Am J Med Genet A 2005 Jul;136(2):162-8

Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA 94305, USA.

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http://dx.doi.org/10.1002/ajmg.a.30784DOI Listing
July 2005

Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics.

J Ultrasound Med 2005 Jun;24(6):811-5

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Stanford University Medical Center, Stanford, CA 94305-5317, USA.

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http://dx.doi.org/10.7863/jum.2005.24.6.811DOI Listing
June 2005

Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?

Am J Med Genet A 2005 May;134(4):359-62

Department of Genetics, Stanford University School of Medicine, Stanford, California 94305-5323, USA.

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http://dx.doi.org/10.1002/ajmg.a.30638DOI Listing
May 2005

Lateral meningocele syndrome: vertical transmission and expansion of the phenotype.

Am J Med Genet A 2005 Mar;133A(2):115-21

Department of Pediatrics, Division of Genetics, Stanford University, 300 Pasteur Drive, Stanford, CA 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.30526DOI Listing
March 2005

Developmental outcome in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):263-4

Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30338
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http://dx.doi.org/10.1002/ajmg.a.30338DOI Listing
January 2005

Neonatal phenotype in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):244-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30336DOI Listing
January 2005

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Pediatrics 2004 Aug;114(2):451-7

Department of Pediatrics, Division of Medical Genetics, H-315, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1542/peds.114.2.451DOI Listing
August 2004

Prenatal diagnosis in the adolescent patient.

Adolesc Med 2002 Jun;13(2):293-303, vi

Division of Medical Genetics, Department of Pediatrics, Stanford University, California 94305-5208, USA.

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June 2002