Kim L. McBride, MD, MS :: Nationwide Children’s Hospital, Columbus, Ohio

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PediaCast with Dr. Mike features Kim McBride, MD, MS on the topic of Genetics of Congenital Heart Disease.

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Kim L. McBride, MD, MS

Kim L. McBride, MD, MS Best Doctors 2011-2012

Contact Information

Molecular & Human Genetics
700 Children's Dr
Columbus, OH 43205 [ map ]
PH: (614) 722-3535
FX: (614) 722-3546
E-mail Me
The Research Institute
at Nationwide Children's Hospital
Columbus, OH 43205 [ map ]
PH: (614) 722-2700

Location Information for Patients

Main Campus

Biography

Kim L. McBride, MD, MS, is an Investigator in the Center for Molecular and Human Genetics at The Research Institute at Nationwide Children’s Hospital and an Assistant Professor in the Department of Pediatrics at The Ohio State University College of Medicine. He received his medical degree from the University of Saskatchewan, completed a residency in pediatrics at the Mayo Clinic and fellowships in clinical genetics and biochemical genetics at Baylor College of Medicine. He also received his Master’s degree at Baylor in the Clinical Scientist Training Program. Dr. McBride is board certified in pediatrics, clinical genetics and clinical biochemical genetics. He is a co-director of the Cardiovascular Genetics Clinic and also participates in the pediatric genetics and metabolic clinics. He cares for both pediatric and adult patients, with a special interest in genetic disorders involving the heart, inborn errors of metabolism, and lysosomal storage disease (particularly with enzyme replacement therapies). His research focuses on the genetics of congenital heart disease. National Institutes of Health (NIH)-funding was awarded to study the genetics of left ventricular outflow tract malformations (congenital aortic valve stenosis, coarctation of the aorta and hypoplastic left heart syndrome). This translational work is using linkage and association methods to dissect the genetic etiologies of these defects by high throughput genotyping methods. Several genes and cardiac developmental pathways have been identified for further exploration in the lab. He is the director of the Cell Line Core Shared Facility in The Research Institute.

Gender:

  • Male

Languages Spoken:

  • English

Research Interests

Research Center:

Areas of Interest:

  • We are interested in the genetics of complex diseases. Our primary focus is to elucidate the causes of Cardiovascular Malformations. We also collaborate with other researchers investigating other diseases that impact children, such as Autism, Inflammatory Bowel Disease, Kidney Disease and Lupus.
  • Supporting Shared Resource: Our lab is the site for the Cell Line Core Shared Resource (Director, Kim L. McBride).
  • Collaborations with OSU: Cardiovascular Development – Dr. Susan Cole, Biological Sciences – Role of Notch in the development of cardiovascular malformations
  • Collaborations Internationally: Genetics of Cardiovascular Malformations– Dr Lars Larsen, Copenhagen Denmark – Linkage analysis of heart defects in the Denmark population
  • LVOTO Malformations Learn about our Genetics of Left Ventricular Outflow Tract Malformations Study http://www.nationwidechildrens.org/ventricular-outflow-tract-malformations
  • Collaborations with Nationwide Children’s Hospital: Autism – Dr. Gail Herman, Center for Molecular and Human Genetics – Genetics of autism Inflammatory Bowel Disease – Dr. Wallace Crandall, Gastroenterology and Dr. Laura Mackner, Center for Behavioral Health – Genetic variants involved in stress response in IBD Informed Consent Process – Dr Kelly Kelleher, Center for Innovation in Pediatric Practice – Study of health literacy and understanding of informed consent for genetic & biobanking studies Otitis Media – Dr. Lauren Bakaletz – Investigation of Copy Number Variants in the predisposition to OM in children
  • Cardiovascular malformations are common birth defects that occur in 5-8/1000 births. They contribute to a large proportion of infant deaths, and have heavy burdens on families and society from ongoing morbidity and high costs. We are interested in the etiology of a group of these malformations that involve obstruction of the left ventricular outflow tract, which includes Aortic Stenosis, Bicuspid Aortic Valve, Coarctation of the Aorta, and Hypoplastic Left Heart Syndrome. We have NIH funding to investigate the genetic etiology of these defects through Genome Wide Association Studies. Our lab is specialized in the collection and analysis of large amounts of clinical and genetic data. We have built an extensive database on our families that contains detailed phenotypic and clinical data on subjects and relatives. The lab has developed expertise in a variety of genotyping methods and platforms, RT-PCR, DNA sequencing, and cell culture methods. We have become proficient in the handling of this data in various database structures and analyzing the data using linkage, association and other statistical genetics techniques. We are also exploring the use of mouse models to understand the pathogenesis of human cardiovascular malformations.
  • Collaborations with Genetics of Cardiovascular Malformations – Dr. Peter Tishler, Harvard, Boston, MA – Linkage analysis of BAV families
  • Collaborations Nationally: Genetics of Cardiovascular Malformations – Dr. John Belmont, Baylor, Houston TX – Genome Wide Association Study of HLHS and related defects

Research Funding*:

  • Genetics of Congenital Left-Sided Heart Defects, National Heart, Lung and Blood Institute/National Cancer Institute
  • Child Health Research Career Development Award, National Institutes of Health

Education and Training

Medical School

  • University of Saskatchewan
    Date Completed: 05/20/1987

Internship

  • Regina General Hospital - Chief Intern
    Date Completed: 06/30/1988

Internship

  • University of Saskatchewan College of Medicine
    Date Completed: 06/30/1988

Residency

  • Mayo Clinic (Rochester)
    Date Completed: 06/30/2000

Fellowship

  • Baylor Affiliated Hospitals (Houston)
    Date Completed: 03/30/2002

Fellowship

  • Baylor Affiliated Hospitals (Houston)
    Date Completed: 07/01/2003

Graduate School

  • Baylor College of Medicine - Masters Clinical Scientist Training Program
    Date Completed: 06/30/2004

Department:

  • Pediatrics

Section:

  • Molecular & Human Genetics

Specialty:

  • Clinical Biochemical Genetics
  • Clinical Genetics
  • Pediatrics

Date of Appointment at Nationwide Children’s Hospital:

  • 08/27/2004

Publications

  • Klima,Jennifer; Fitzgerald-Butt,Sara,M; Kelleher,Kelly,J; Chisolm,Deena,J; Comstock,R,Dawn; Ferketich,Amy,K; McBride,Kim,L. 2014. Understanding of informed consent by parents of children enrolled in a genetic biobank.  Genetics in medicine. Vol. 16, no. 2. (February): 141-148.
  • Polan,Michelle,B; Pastore,Matthew,T; Steingass,Katherine; Hashimoto,Sayaka; Thrush,Devon,L; Pyatt,Robert; Reshmi,Shalini; Gastier-Foster,Julie,M; Astbury,Caroline; McBride,Kim,L. 2014. Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA(A) receptor subunit gene cluster.  EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 22, no. 1. (January): 105-109.
  • Bowden SA, Patel HP, Beebe A, McBride KL. 2013. Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome.  Case Rep Pediatr. Vol. 2013, no. December: e354314.
  • Lalani,Seema,R; Ware,Stephanie,M; Wang,Xueqing; Zapata,Gladys; Tian,Qi; Franco,Luis,M; Jiang,Zhengxin; Bucasas,Kristine; Scott,Daryl,A; Campeau,Philippe,M; Hanchard,Neil; Umana,Luis; Cast,Ashley; Patel,Ankita; Cheung,Sau,W; McBride,Kim,L; Bray,Molly; Chinault,A,Craig; Boggs,Barbara,A; Huang,Miao; Baker,Mariah,R; Hamilton,Susan; Towbin,Jeff; Jefferies,John,L; Fernbach,Susan,D; Potocki,Lorraine; Belmont,John,W. 2013. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.  HUMAN MOLECULAR GENETICS. Vol. 22, no. 21. (November): 4339-4348.
  • Chang,Sheng-Wei; Mislankar,Mona; Misra,Chaitali; Huang,Nianyuan; DaJusta,Daniel,G; Harrison,Steven,M; McBride,Kim,L; Baker,Linda,A; Garg,Vidu. 2013. Genetic Abnormalities in FOXP1 Are Associated with Congenital Heart Defects.  HUMAN MUTATION. Vol. 34, no. 9. (September): 1226-1230.
  • Cohn GM, Morin I, Whiteman DA; on behalf of the Hunter Outcome Survey Investigators. 2013. Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.  Eur J Pediatr.. Vol. 172, no. July: e965.
  • Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ; HOS Natural History Working Group on behalf of the HOS Investigators. 2013. The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).  Mol Genet Metab. Vol. 109, no. May: e41.
  • McBride,Kim,L. 2013. Severe hypertrophic cardiomyopathy in Noonan syndrome-consider sequencing genes encoding sarcomeric proteins.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 161A, no. 1. (January): 230-231.
  • Seagraves, NJ, McBride KL. 2012. Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influences.  Molecular Genetics and Metabolism. Vol. 107, no. 4. (December): 650-658.
  • McBride,Kim,L; Ware,Stephanie,M. 2012. Modifying mendel: approaches for identification of susceptibility alleles for human cardiovascular malformations.  Circulation. Cardiovascular genetics. Vol. 5, no. 3. (June): 274-276.
  • Keilmann,Annerose; Nakarat,Todsaporn; Bruce,Iain,A; Molter,David; Malm,Gunilla. 2012. Hearing loss in patients with mucopolysaccharidosis II: Data from HOS - the Hunter Outcome Survey.  JOURNAL OF INHERITED METABOLIC DISEASE. Vol. 35, no. 2. (March): 343-353.
  • Hisama,Fuki,M; Lessel,Davor; Leistritz,Dru; Friedrich,Katrin; McBride,Kim,L; Pastore,Matthew,T; Gottesman,Gary,S; Saha,Bidisha; Martin,George,M; Kubisch,Christian; Oshima,Junko. 2011. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 155A, no. 12. (December): 3002-3006.
  • Yates,Andrew,R; Hoffman,Timothy,M; Shepherd,Edward; Boettner,Bethany; McBride,Kim,L. 2011. Pediatric Sub-specialist Controversies in the Treatment of Congenital Heart Disease in Trisomy 13 or 18.  JOURNAL OF GENETIC COUNSELING. Vol. 20, no. 5. (October): 495-509.
  • McBride KL; Garg V. 2011. Heredity of bicuspid aortic valve: is family screening indicated?.  Heart (British Cardiac Society). Vol. 97, no. 15. (August): e1193.
  • McBride,Kim,L. 2011. Rebuttal to the Invited Comment of Opitz and Carey.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 155A, no. 8. (August): 2037-2038.
  • McBride KL. 2011. Rebuttal to the invited comment of Opitz and Carey.  American Journal Of Medical Genetics. Part A. Vol. 155, no. 8. (August): e2037.
  • Kampmann,Christoph; Beck,Michael; Morin,Isabelle; Loehr,James,P. 2011. Prevalence and Characterization of Cardiac Involvement in Hunter Syndrome.  JOURNAL OF PEDIATRICS. Vol. 159, no. 2. (August): 327-U204.
  • McBride,Kim,L; Garg,Vidu. 2011. Heredity of bicuspid aortic valve: is family screening indicated?.  HEART. Vol. 97, no. 15. (August): 1193-1195.
  • Burton,Barbara,K; Whiteman,David,AH. 2011. Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS).  MOLECULAR GENETICS AND METABOLISM. Vol. 103, no. 2. (June): 113-120.
  • Cottrell,Catherine,E; Bir,Natalie; Varga,Elizabeth; Alvarez,Carlos,E; Bouyain,Samuel; Zernzach,Randall; Thrush,Devon,L; Evans,Johnna; Trimarchi,Michael; Butter,Eric,M; Cunningham,David; Gastier-Foster,Julie,M; McBride,Kim,L; Herman,Gail,E. 2011. Contactin 4 as an Autism Susceptibility Locus.  AUTISM RESEARCH. Vol. 4, no. 3. (June): 189-199.
  • Cottrell CE; Bir N; Varga E; Alvarez CE; Bouyain S; Zernzach R; Thrush DL; Evans J; Trimarchi M; Butter EM; Cunningham D; Gastier-Foster JM; McBride KL; Herman GE. 2011. Contactin 4 as an autism susceptibility locus.  Autism Research: Official Journal Of The International Society For Autism Research. Vol. 4, no. 3. (June): e189.
  • Burton BK, Whiteman DA; On behalf of the HOS Investigators (McBride K). 2011. Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS).  Mol Genet Metab. Vol. 2, no. 103. (March): 113-120.
  • McBride,Kim,L; Zender,Gloria,A; Fitzgerald-Butt,Sara,M; Seagraves,Nikki,J; Fernbach,Susan,D; Zapata,Gladys; Lewin,Mark; Towbin,Jeffrey,A; Belmont,John,W. 2011. Association of Common Variants in ERBB4 with Congenital Left Ventricular Outflow Tract Obstruction Defects.  BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY. Vol. 91, no. 3. (March): 162-168.
  • McBride KL; Zender GA; Fitzgerald-Butt SM; Seagraves NJ; Fernbach SD; Zapata G; Lewin M; Towbin JA; Belmont JW. 2011. Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.  Birth Defects Research. Part A, Clinical And Molecular Teratology. Vol. 91, no. 3. (March): e162.
  • Muenzer,Joseph; Beck,Michael; Giugliani,Roberto; Suzuki,Yasuyuki; Tylki-Szymanska,Anna; Valayannopoulos,Vassili; Vellodi,Ashok; Wraith,James,E. 2011. Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey.  GENETICS IN MEDICINE. Vol. 13, no. 2. (February): 102-109.
  • Riley,Maurisa,F; McBride,Kim,L; Cole,Susan,E. 2011. NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT.  BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. Vol. 1812, no. 1. (January): 121-129.
  • Riley MF; McBride KL; Cole SE. 2011. NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT.  Biochimica Et Biophysica Acta. Vol. 1812, no. 1. (January): e121.
  • Becknell B; Zender GA; Houston R; Baker PB; McBride KL; Luo W; Hains DS; Borza DB; Schwaderer AL. 2011. Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.  Kidney International. Vol. 79, no. 1. (January): e120.
  • Becknell,Brian; Zender,Gloria,A; Houston,Ronald; Baker,Peter,B; McBride,Kim,L; Luo,Wentian; Hains,David,S; Borza,Dorin-Bogdan; Schwaderer,Andrew,L. 2011. Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.  KIDNEY INTERNATIONAL. Vol. 79, no. 1. (January): 120-127.
  • McBride KL; Garg V. 2010. Impact of Mendelian inheritance in cardiovascular disease.  Annals Of The New York Academy Of Sciences. Vol. 1214, no. December: e122.
  • Mendelsohn,Nancy,J; Harmatz,Paul; Bodamer,Olaf; Burton,Barbara,K; Giugliani,Roberto; Jones,Simon,A; Lampe,Christina; Malm,Gunilla; Steiner,Robert,D; Parini,Rossella. 2010. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey.  GENETICS IN MEDICINE. Vol. 12, no. 12. (December): 816-822.
  • Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators (McBride K). 2010. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.  Genetics in Medicine. Vol. 12, no. 12. (December): 816-822.
  • Mendelsohn,Nancy,J; Harmatz,Paul; Bodamer,Olaf; Burton,Barbara,K; Giugliani,Roberto; Jones,Simon,A; Lampe,Christina; Malm,Gunilla; Steiner,Robert,D; Parini,Rossella. 2010. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey.  GENETICS IN MEDICINE. Vol. 12, no. 12. (December): 816-822.
  • Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA; HOS investigators (McBride K). 2010. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.  Mol Genet Metab.. Vol. 101, no. 2-3. (November): 123-129.
  • Burton,Barbara,K; Guffon,Nathalie; Roberts,Jane; van der Ploeg,Ans,T; Jones,Simon,A. 2010. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.  MOLECULAR GENETICS AND METABOLISM. Vol. 101, no. 2-3. (October): 123-129.
  • Burton,Barbara,K; Guffon,Nathalie; Roberts,Jane; van der Ploeg,Ans,T; Jones,Simon,A. 2010. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.  MOLECULAR GENETICS AND METABOLISM. Vol. 101, no. 2-3. (October): 123-129.
  • Link,Bianca; de Camargo Pinto,Louise,Lapagesse; Giugliani,Roberto; Wraith,James,Edmond; Guffon,Nathalie; Eich,Elke; Beck,Michael. 2010. Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.  Orthopedic reviews. Vol. 2, no. 2. (September): ee16.
  • McBride,Kim,L; Varga,Elizabeth,A; Pastore,Matthew,T; Prior,Thomas,W; Manickam,Kandamurugu; Atkin,Joan,F; Herman,Gail,E. 2010. Confirmation Study of PTEN Mutations Among Individuals with Autism or Developmental Delays/Mental Retardation and Macrocephaly.  AUTISM RESEARCH. Vol. 3, no. 3. (June): 137-141.
  • McBride KL; Varga EA; Pastore MT; Prior TW; Manickam K; Atkin JF; Herman GE. 2010. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.  Autism Research: Official Journal Of The International Society For Autism Research. Vol. 3, no. 3. (June): e137.
  • McBride,Kim,L; Varga,Elizabeth,A; Pastore,Matthew,T; Prior,Thomas,W; Manickam,Kandamurugu; Atkin,Joan,F; Herman,Gail,E. 2010. Confirmation Study of PTEN Mutations Among Individuals with Autism or Developmental Delays/Mental Retardation and Macrocephaly.  AUTISM RESEARCH. Vol. 3, no. 3. (June): 137-141.
  • Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman L, Zabukovec h M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG. 2010. Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.  Molecular Syndromology. Vol. 1, no. 5. (May): 262-271. PubMed ID: 22140379
  • Ballif,Blake,C; Theisen,Aaron; Rosenfeld,Jill,A; Traylor,Ryan,N; Gastier-Foster,Julie; Thrush,Devon,Lamb; Astbury,Caroline; Bartholomew,Dennis; McBride,Kim,L; Pyatt,Robert,E; Shane,Kate; Smith,Wendy,E; Banks,Valerie; Gallentine,William,B; Brock,Pamela; Rudd,M,Katharine; Adam,Margaret,P; Keene,Julia,A; Phillips,John,A; Pfotenhauer,Jean,P; Gowans,Gordon,C; Stankiewicz,Pawel; Bejjani,Bassem,A; Shaffer,Lisa,G. 2010. Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities.  AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 86, no. 3. (March): 454-461.
  • Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA 3rd; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG. 2010. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.  American Journal Of Human Genetics. Vol. 86, no. 3. (March): e454.
  • Fitzgerald-Butt,Sara,M; Byrne,Lindsey; Gerhardt,Cynthia,A; Vannatta,Kathryn; Hoffman,Timothy,M; McBride,Kim,L. 2010. Parental Knowledge and Attitudes Toward Hypertrophic Cardiomyopathy Genetic Testing.  PEDIATRIC CARDIOLOGY. Vol. 31, no. 2. (February): 195-202.
  • Fitzgerald-Butt SM; Byrne L; Gerhardt CA; Vannatta K; Hoffman TM; McBride KL. 2010. Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing.  Pediatric Cardiology. Vol. 31, no. 2. (February): e195.
  • McBride,Kim,L; Garg,Vidu. 2010. Impact of Mendelian inheritance in cardiovascular disease.  YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS. Vol. 1214, no. January: 122-137.
  • Cunningham D; Talabere T; Bir N; Kennedy M; McBride KL; Herman GE. 2010. Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.  Human Molecular Genetics. Vol. 19, no. 2. (January): e364.
  • Cunningham,David; Talabere,Tiffany; Bir,Natalie; Kennedy,Matthew; McBride,Kim,L; Herman,Gail,E. 2010. Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.  HUMAN MOLECULAR GENETICS. Vol. 19, no. 2. (January): 364-373.
  • Campeau,Philippe,M; Pivalizza,Penelope,J; Miller,Geoffrey; McBride,Kim; Karpen,Saul; Goss,John; Lee,Brendan,H. 2010. Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study. In 3rd International Satellite on Urea Cycle Disorders
  • Campeau PM; Pivalizza PJ; Miller G; McBride K; Karpen S; Goss J; Lee BH. 2010. Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study.  Molecular Genetics And Metabolism. Vol. 100 Suppl 1, no. January: eS84.
  • Campeau,P,M; Pivalizza,P,J; Tran,A,A; McBride,K,L; Miller,G; Carter,S; Karpen,S; Goss,J,A; Lee,B,H. 2009. EARLY ORTHOTOPIC LIVER TRANSPLANTATION IN UREA CYCLE DEFECTS: A DEVELOPMENT OUTCOME STUDY. In 11th International Conference of Inborn Errors of Metabolism
  • McBride KL; Zender GA; Fitzgerald-Butt SM; Koehler D; Menesses-Diaz A; Fernbach S; Lee K; Towbin JA; Leal S; Belmont JW. 2009. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).  European Journal Of Human Genetics: EJHG. Vol. 17, no. 6. (June): e811.
  • McBride,Kim,L; Zender,Gloria,A; Fitzgerald-Butt,Sara,M; Koehler,Daniel; Menesses-Diaz,Andres; Fernbach,Susan; Lee,Kwanghyuk; Towbin,Jeffrey,A; Leal,Suzanne; Belmont,John,W. 2009. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).  EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 17, no. 6. (June): 811-819.
  • Dyke,Peter,C; Konczal,Laura; Bartholomew,Dennis; McBride,Kim,L; Hoffman,Timothy,M. 2009. Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase.  PEDIATRIC CARDIOLOGY. Vol. 30, no. 4. (May): 523-526.
  • Dyke,Peter,C; Konczal,Laura; Bartholomew,Dennis; McBride,Kim,L; Hoffman,Timothy,M. 2009. Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase.  PEDIATRIC CARDIOLOGY. Vol. 30, no. 4. (May): 523-526.
  • Dyke PC 2nd; Konczal L; Bartholomew D; McBride KL; Hoffman TM. 2009. Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.  Pediatric Cardiology. Vol. 30, no. 4. (May): e523.
  • Varga,Elizabeth,A; Pastore,Matthew; Prior,Thomas; Herman,Gail,E; McBride,Kim,L. 2009. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.  GENETICS IN MEDICINE. Vol. 11, no. 2. (February): 111-117.
  • Varga EA; Pastore M; Prior T; Herman GE; McBride KL. 2009. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.  Genetics In Medicine: Official Journal Of The American College Of Medical Genetics. Vol. 11, no. 2. (February): e111.
  • Cua CL, Bean LJH, Zender G, Pham T, Sherman SL, Dooley K, McBride KL. 2009. BMPR2 Sequence Analysis in a Down Syndrome Population with Congenital Heart Disease. In Heart Disease in Children. Edited by Oliveira MD and Copley WS. Hauppauge, NY: Nova Publishing.
  • McBride,Kim,L; Riley,Maurisa,F; Zender,Gloria,A; Fitzgerald-Butt,Sara,M; Towbin,Jeffrey,A; Belmont,John,W; Cole,Susan,E. 2008. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.  HUMAN MOLECULAR GENETICS. Vol. 17, no. 18. (September): 2886-2893.
  • McBride KL; Riley MF; Zender GA; Fitzgerald-Butt SM; Towbin JA; Belmont JW; Cole SE. 2008. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.  Human Molecular Genetics. Vol. 17, no. 18. (September): e2886.
  • Yang,Yan; Chung,Erwin,K; Wu,Yee,Ling; Savelli,Stephanie,L; Nagaraja,Haikady,N; Zhou,Bi; Hebert,Maddie; Jones,Karla,N; Shu,Yaoling; Kitzmiller,Kathryn; Blanchong,Carol,A; McBride,Kim,L; Higgins,Gloria,C; Rennebohm,Robert,M; Rice,Robert,R; Hackshaw,Kevin,V; Roubey,Robert,AS; Grossman,Jennifer,M; Tsao,Betty,P; Birmingham,Daniel,J; Rovin,Brad,H; Hebert,Lee,A; Yu,C,Yung. 2007. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): Low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.  AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 80, no. 6. (June): 1037-1054.
  • Yang Y; Chung EK; Wu YL; Savelli SL; Nagaraja HN; Zhou B; Hebert M; Jones KN; Shu Y; Kitzmiller K; Blanchong CA; McBride KL; Higgins GC; Rennebohm RM; Rice RR; Hackshaw KV; Roubey RA; Grossman JM; Tsao BP; Birmingham DJ; Rovin BH; Hebert LA; Yu CY. 2007. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.  American Journal Of Human Genetics. Vol. 80, no. 6. (June): e1037.
  • Herman GE; Henninger N; Ratliff-Schaub K; Pastore M; Fitzgerald S; McBride KL. 2007. Genetic testing in autism: how much is enough?.  Genetics In Medicine: Official Journal Of The American College Of Medical Genetics. Vol. 9, no. 5. (May): e268.
  • Herman,Gail,E; Henninger,Nathan; Ratliff-Schaub,Karen; Pastore,Matthew; Fitzgerald,Sara; McBride,Kim,L. 2007. Genetic testing in autism: how much is enough?.  GENETICS IN MEDICINE. Vol. 9, no. 5. (May): 268-274.
  • McBride,Kim,L; Belmont,John,W; O'Brien,William,E; Amin,Tanay,J; Carter,Susan; Lee,Brendan,H. 2007. Heritability of plasma amino acid levels in different nutritional states.  MOLECULAR GENETICS AND METABOLISM. Vol. 90, no. 2. (February): 217-220.
  • McBride KL; Belmont JW; O'Brien WE; Amin TJ; Carter S; Lee BH. 2007. Heritability of plasma amino acid levels in different nutritional states.  Molecular Genetics And Metabolism. Vol. 90, no. 2. (February): e217.
  • Schwaderer AL; Bates CM; McHugh KM; McBride KL. 2007. Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.  Pediatric Nephrology (Berlin, Germany). Vol. 22, no. 1. (January): e52.
  • Schwaderer,Andrew,L; Bates,Carlton,M; McHugh,Kirk,M; McBride,Kim,L. 2007. Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.  PEDIATRIC NEPHROLOGY. Vol. 22, no. 1. (January): 52-56.
  • McBride KL. 2007. Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome).  Expert Review of Endocrinology & Metabolism. Vol. 2, no. 1. (January): 19-26.
  • McBride KL. 2007. Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome).  Exp Review Endocrinol Metab. Vol. 1, no. 2. (January): 19-26.
  • Derom C; Jawaheer D; Chen WV; McBride KL; Xiao X; Amos C; Gregersen PK; Vlietinck R. 2006. Genome-wide linkage scan for spontaneous DZ twinning.  European Journal Of Human Genetics: EJHG. Vol. 14, no. 1. (January): e117.
  • Derom,C; Jawaheer,D; Chen,W,V; McBride,K,L; Xiao,X,L; Amos,C; Gregersen,P,K; Vlietinck,R. 2006. Genome-wide linkage scan for spontaneous DZ twinning.  EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 14, no. 1. (January): 117-122.
  • McBride,K,L; Marengo,L; Canfield,M; Langlois,P; Fixler,D; Belmont,J,W. 2005. Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001.  BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY. Vol. 73, no. 8. (August): 555-561.
  • McBride KL; Marengo L; Canfield M; Langlois P; Fixler D; Belmont JW. 2005. Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001.  Birth Defects Research. Part A, Clinical And Molecular Teratology. Vol. 73, no. 8. (August): e555.
  • McBride KL; Teske D; Sparks L; Fitzgerald S. 2005. Cardiovascular genetics clinics.  American Journal Of Medical Genetics. Part A. Vol. 135, no. 2. (June): e229.
  • McBride,K,L; Pignatelli,R; Lewin,M; Ho,T; Fernbach,S; Menesses,A; Lam,W; Leal,S,M; Kaplan,N; Schliekelman,P; Towbin,J,A; Belmont,J,W. 2005. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 134A, no. 2. (April): 180-186.
  • McBride KL; Pignatelli R; Lewin M; Ho T; Fernbach S; Menesses A; Lam W; Leal SM; Kaplan N; Schliekelman P; Towbin JA; Belmont JW. 2005. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.  American Journal Of Medical Genetics. Part A. Vol. 134A, no. 2. (April): e180.
  • McBride,K,L; Miller,G; Carter,S; Karpen,S; Goss,J; Lee,B. 2004. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency.  PEDIATRICS. Vol. 114, no. 4. (October): E523-E526.
  • McBride,K,L; Fernbach,S; Menesses,A; Molinari,L; Quay,E; Pignatelli,R; Towbin,J,A; Belmont,J,W. 2004. A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.  BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY. Vol. 70, no. 10. (October): 825-830.
  • McBride KL; Fernbach S; Menesses A; Molinari L; Quay E; Pignatelli R; Towbin JA; Belmont JW. 2004. A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.  Birth Defects Research. Part A, Clinical And Molecular Teratology. Vol. 70, no. 10. (October): e825.
  • McBride KL; Miller G; Carter S; Karpen S; Goss J; Lee B. 2004. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency.  Pediatrics. Vol. 114, no. 4. (October): ee523.
  • Lewin,M,B; McBride,K,L; Pignatelli,R; Fernbach,S; Combes,A; Menesses,A; Lam,W; Bezold,L,I; Kaplan,N; Towbin,J,A; Belmont,J,W. 2004. Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.  PEDIATRICS. Vol. 114, no. 3. (September): 691-696.
  • Lewin MB; McBride KL; Pignatelli R; Fernbach S; Combes A; Menesses A; Lam W; Bezold LI; Kaplan N; Towbin JA; Belmont JW. 2004. Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.  Pediatrics. Vol. 114, no. 3. (September): e691.
  • McBride,K,L. 2003. Case 27-2002: Late-onset infantile neuronal ceroid lipofuscinosis.  NEW ENGLAND JOURNAL OF MEDICINE. Vol. 348, no. 21. (May): 2159-2159.
  • McBride KL. 2003. Case 27-2002: late-onset infantile neuronal ceroid lipofuscinosis.  The New England Journal Of Medicine. Vol. 348, no. 21. (May): e2159.
  • Lalani SR; Stockton DW; Bacino C; Molinari LM; Glass NL; Fernbach SD; Towbin JA; Craigen WJ; Graham JM Jr; Hefner MA; Lin AE; McBride KL; Davenport SL; Belmont JW. 2003. Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.  American Journal Of Medical Genetics. Part A. Vol. 118A, no. 3. (April): e260.
  • Lalani,S,R; Stockton,D,W; Bacino,C; Molinari,L,M; Glass,N,L; Fernbach,S,D; Towbin,J,A; Craigen,W,J; GRAHAM,J,M; Hefner,M,A; Lin,A,E; McBride,K,L; Davenport,S,L; Belmont,J,W. 2003. Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 118A, no. 3. (April): 260-266.
  • McBride KL; Pfeifer EA; Wylam ME. 2002. Aortoesophageal fistula in a 13-yr-old girl: complication after nasogastric tube placement in the setting of right-sided aortic arch.  Pediatric Critical Care Medicine: A Journal Of The Society Of Critical Care Medicine And The World Federation Of Pediatric Intensive And Critical Care Societies. Vol. 3, no. 4. (October): e378.
  • McBride,Kim,L; Pfeifer,Eric,A; Wylam,Mark,E. 2002. Aortoesophageal fistula in a 13-yr-old girl: complication after nasogastric tube placement in the setting of right-sided aortic arch.  Pediatric critical care medicine. Vol. 3, no. 4. (October): 378-380.
  • McBride K, Napierala D, Chen Y, Zheng Q, Zhou G, Lee B. 2002. RUNX2/CBFA1 mutations in cleidocranial dysplasia: phenotypic and structure/function correlations. In The Growth Plate. Edited by Shapiro IM, Boyan B, Anderson HC. Amsterdam: IOS Press.
  • McBride KL; Snow K; Kubik KS; Fairbanks VF; Hoyer JD; Fairweather RB; Chaffee S; Edwards WH. 2001. Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.  Hemoglobin. Vol. 25, no. 4. (November): e375.
  • McBride,K,L; Napierala,D; Chen,Y; Zhou,G; Lee,B. 2001. Cleidocranial dysplasia phenotype and correlations with CBFA1/RUNX mutations. In American Society of Human Genetics Annual Meeting
  • McBride,K,L; Snow,K; Kubik,K,S; Fairbanks,V,F; Hoyer,J,D; Fairweather,R,B; Chaffee,S; Edwards,W,H. 2001. Hb Dartmouth [alpha 66(E15)Leu -> Pro (alpha 2) (CTG -> CCG)]: A novel alpha 2-globin gene mutation associated with severe neonatal anemia when inherited in trans with southeast Asian alpha-thalassemia-1.  HEMOGLOBIN. Vol. 25, no. 4. (January): 375-382.
  • McBride KL; Gilchrist GS; Smithson WA; Weinshilboum RM; Szumlanski CL. 2000. Severe 6-thioguanine-induced marrow aplasia in a child with acute lymphoblastic leukemia and inherited thiopurine methyltransferase deficiency.  Journal Of Pediatric Hematology/Oncology: Official Journal Of The American Society Of Pediatric Hematology/Oncology. Vol. 22, no. 5. (September): e441.
  • McBride,K,L; Gilchrist,G,S; Smithson,W,A; Weinshilboum,R,M; Szumlanski,C,L. 2000. Severe 6-thioguanine-induced marrow aplasia in a child with acute lymphoblastic leukemia and inherited thiopurine methyltransferase deficiency. In Joint Annual Meeting of the International-Society-of-Paediatric-Oncology/American-Society-of-Pediatric-Hematology-Oncology
  • Worrell,G,A; Buchhalter,J,R; McBride,K,L. 2000. Lyme disease and pseudotumor - Reply.  MAYO CLINIC PROCEEDINGS. Vol. 75, no. 3. (March): 315-315.
  • Worrell GA; McBride KL; Buchhalter JR. 1999. 14-year-old boy with blurred vision and diplopia.  Mayo Clinic Proceedings. Mayo Clinic. Vol. 74, no. 11. (November): e1157.
  • Worrell,G,A; McBride,K,L; Buchhalter,J,R. 1999. 14-year-old boy with blurred vision and diplopia.  MAYO CLINIC PROCEEDINGS. Vol. 74, no. 11. (November): 1157-1160.
  • Fairweather,R,B; Chaffee,S; McBride,K,L; Snow,K; Kubik,K,S; Hoyer,J,D; Edwards,W,H; Fairbanks,V,F. 1999. Hyperunstable Hb Dartmouth [alpha 2-66(E15) Leu -> Pro (CTG -> CCG)] in association with alpha-thalassemia-1 (SE Asian) causes transfusion-dependent alpha thalassemia.
  • Worrell,G,A; McBride,K,L; Buchhalter,J,R. 1999. 14-year-old boy with blurred vision and diplopia.  MAYO CLINIC PROCEEDINGS. Vol. 74, no. 11. (November): 1157-1160.
  • McBride,K,L; Smithson,W,A; Gilchrist,G,S; Weinshilboum,R,M; Szmulanski,C. 1999. Severe marrow aplasia induced by 6-thioguanine (6TG) in a child with acute lymphoblastic leukemia (ALL) and inherited thiopurine methyltransferase (TPMT) deficiency.
  • McBride KL. 1997. Validation of the Ottawa ankle rules. Experience at a community hospital.  Canadian Family Physician Médecin De Famille Canadien. Vol. 43, no. March: e459.
  • McBride,K,L. 1997. Validation of the Ottawa ankle rules - Experience at a community hospital.  CANADIAN FAMILY PHYSICIAN. Vol. 43, no. March: 459-465.
  • Seagraves NJ, McBride KL. Cardiac Teratogenicity in Mouse Maternal Phenylketonuria: Defining phenotype parameters and genetic background influences.  Molecular Genetics and Metabolism.
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