M. Pierpont

M. Pierpont, Collin M. McClelland, Michael S. Lee, 2019, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Effects of dietary fat and carnitine on urine carnitine excretion in healthy dogs.

S. Lowry, M. Pierpont, K. Gross, 2001, Veterinary therapeutics : research in applied veterinary medicine.

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

B. Gelb, M. Pierpont, E. Sweeney, 2001, American journal of human genetics.

Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children.

C. Stanley, G. Breningstall, M. Pierpont, 2000, American heart journal.

Rocking waterbeds and auditory stimuli to enhance growth of preterm infants. Preliminary report.

M. Pierpont, L. I. Kramer, 1976, The Journal of pediatrics.

Cardiac and skeletal myopathy associated with cardiac dysrhythmias.

G. Breningstall, M. Pierpont, D. Benditt, 1984, The American journal of cardiology.

Congenital Cardiac Malformations

J. Moller, M. Pierpont, Mary Ella M. Pierpont, 1987 .

Myocardial carnitine in end-stage congestive heart failure.

W. S. Ring, G. Pierpont, M. Olivari, 1989, The American journal of cardiology.

Cardiac transplantation in children with Noonan syndrome

A. Lin, D. Stevenson, Teresa M. Lee, 2019, Pediatric transplantation.

Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch.

J. Moller, J. Edwards, M. Pierpont, 1988, The American journal of cardiology.

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

W. Dobyns, M. Pierpont, D. Satran, 1999, American journal of medical genetics.

Carnitine Alterations in Spontaneous and Drug- Induced Turkey Congestive Cardiomyopathy

M. Pierpont, S. Einzig, D. Judd, 1985, Pediatric Research.

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Colin C. Collins, Yu Deng, Leroy Hood, 1997, Nature Genetics.

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

M. Brueckner, C. Basson, S. Aftimos, 2005, Pediatric Research.

Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation.

D. Snover, J. Kersey, M. Pierpont, 1984, The New England journal of medicine.

Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.

B. Gelb, G. Diaz, M. Pierpont, 1999, Circulation.

Familial occurrence of patent ductus arteriosus.

M. Pierpont, L. J. Sletten, 1995, American journal of medical genetics.

Variation in severity of cardiac disease in Holt-Oram syndrome.

M. Pierpont, L. J. Sletten, L. Sletten, 1996, American journal of medical genetics.

Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant

M. Pierpont, Cindy M. Martin, M. Paller, 2018, ESC heart failure.

22q11.2 microdeletions in adults with familial tetralogy of Fallot

J. Moller, B. Hirsch, M. Pierpont, 2001, Genetics in Medicine.

Metabolic aspects of myocardial disease and a role for L-carnitine in the treatment of childhood cardiomyopathy.

G. Koch, J. Prochazka, J. Procházka, 2000, Pediatrics.

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

W. Chung, J. Priest, W. Pu, 2018, Circulation.

Congenital cardiac malformations in Adams‐Oliver syndrome

M. Pierpont, L. J. Sletten, H. Zapata, 1995, Clinical genetics.

Evaluation of urinary carnitine and taurine excretion in 5 cystinuric dogs with carnitine and taurine deficiency.

M. Pierpont, J. Bartges, J. Lulich, 2001, Journal of veterinary internal medicine.

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

D. Srivastava, B. Gelb, C. Basson, 2007, Circulation.

Mitochondrial function in children with idiopathic dilated cardiomyopathy

S. Lipshultz, A. Perez-Atayde, J. Marín-García, 1996, Journal of Inherited Metabolic Disease.

Fibrinolysis by tissue plasminogen activator in a child with pulmonary embolism.

P. Hesslein, M. Pierpont, M. Steiner, 1990, The Journal of pediatrics.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Martin, J. Shendure, Martin Kircher, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Atenolol versus losartan in children and young adults with Marfan's syndrome.

S. Colan, S. B. Wechsler, H. Dietz, 2014, The New England journal of medicine.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

K. Jones, A. Giannotti, M. Campo, 1999, Human molecular genetics.

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

W. Sly, S. Duan, W. Mcalister, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Abnormalities of Intermediary Metabolism

M. Pierpont, M. Tripp, 1987 .

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

E. Haan, D. Baralle, D. Evans, 2007, American journal of human genetics.

Jarcho-Levin syndrome: four new cases and classification of subtypes.

M. Pierpont, D. Day, S. Berry, 1991, American journal of medical genetics.

Genetic Basis for Congenital Heart Defects: Current Knowledge

D. Srivastava, B. Gelb, C. Basson, 2007, Pediatrics.

Cardiovascular Disease in the Young : Statement From the American Heart Association Congenital Cardiac Defects Genetic Basis for Congenital Heart Defects : Current Knowledge : A Scientific

D. Srivastava, B. Gelb, C. Basson, 2007 .

A specific mutation in TBL1XR1 causes Pierpont syndrome

Francesca Forzano, G Bradley Schaefer, Aldo Jongejan, 2016, Journal of Medical Genetics.

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

B. Gelb, J. Goodship, J. Burn, 2000, Nature Genetics.

Partial trisomy 6q and bilateral retinal detachment.

M. Pierpont, W. Knobloch, K. MacCarthy, 1986, Ophthalmic paediatrics and genetics.

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

T. Shaikh, B. Emanuel, S. Saitta, 2007, Genome research.

The language phenotype of children and adolescents with Noonan syndrome.

Mark S. Seidenberg, E. I. Pierpont, S. Ellis Weismer, 2010, Journal of speech, language, and hearing research : JSLHR.

Genotype differences in cognitive functioning in Noonan syndrome

Mark S. Seidenberg, E. I. Pierpont, A. Roberts, 2009, Genes, brain, and behavior.

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

E. I. Pierpont, C. Moertel, M. Semrud-Clikeman, 2018, Journal of Neurodevelopmental Disorders.

A novel microdeletion/microduplication syndrome of 19p13.13

B. Hirsch, M. Pierpont, L. Schimmenti, 2010, Genetics in Medicine.

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation

C. Summers, M. Pierpont, N. Mendelsohn, 2017, American journal of medical genetics. Part A.

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

J. Ivanovich, C. Eng, G. Feldman, 2003, American journal of human genetics.

Single central incisor in familial holoprosencephaly.

R. Gorlin, M. Pierpont, S. Berry, 1984, The Journal of pediatrics.

Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia

J. Moller, R. Gorlin, J. Edwards, 1982, Pediatric Cardiology.

The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome

L. Potocki, M. Pierpont, A. Sanchez-Valle, 2011, American journal of medical genetics. Part A.

Interstitial deletion of 10q: clinical features and literature review.

J. Červenka, M. Pierpont, A. London, 1992, American journal of medical genetics.

Interruption of the aortic arch with right descending aorta

J. Moller, J. Edwards, M. Pierpont, 1982, Pediatric Cardiology.

Unbalanced 4;6 translocation and progressive renal disease.

A. Sinaiko, B. Hirsch, M. Pierpont, 2000, American journal of medical genetics.

Missense and nonsense mutations in the alternatively‐spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

L. Ala‐Kokko, M. Männikkö, M. Pierpont, 2008, Human mutation.

Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy.

S. Lipshultz, A. Perez-Atayde, J. Marín-García, 1996, Cardiovascular research.

Impaired mitochondrial function in idiopathic dilated cardiomyopathy: biochemical and molecular analysis.

J. Marín-García, M. Pierpont, M. Goldenthal, 1995, Journal of cardiac failure.

Familial interruption of the aortic arch

J. Moller, J. Edwards, M. Pierpont, 1993, Pediatric Cardiology.

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

W. Chung, P. Jayakar, M. Marble, 2021, Genetics in Medicine.

The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations.

J. Marín-García, M. Pierpont, M. Goldenthal, 2000, Journal of cardiac failure.

Erratum: Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux (Nature Genetics (1995) 9 (358- 364))

W. Dobyns, M. Eccles, M. Pierpont, 1996 .

Occurrence of cardiac malformations in relatives of children with transposition of the great arteries.

J. Moller, M. Pierpont, R. V. Van Amber, 1996, American journal of medical genetics.

Heterotaxia syndrome and autosomal dominant inheritance.

S. Taviaux, M. Pierpont, I. Dähnert, 1995, American journal of medical genetics.

Pseudodeficiency of arylsulfatase A: a counseling dilemma

S. Baldinger, M. Pierpont, D. Wenger, 1987, Clinical genetics.

UvA-DARE ( Digital Academic Repository ) The human achaete-scute homologue 2 ( ASCL 2 , HASH 2 ) maps to chromosome 11 p 15 . 5 , close to IGF 2 and is expressed in extravillus

V. Sheffield, E. Stone, S. Patil, 1997 .

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Localization of chromosomal RNA in human G-banded metaphase chromosomes.

J. Yunis, M. Pierpont, 1977, Experimental cell research.

Duplication 6q22-->qter: definition of the phenotype.

M. Pierpont, R. Higgins, B. Conrad, 1998, American journal of medical genetics.

Myocardial carnitine metabolism in congestive heart failure induced by incessant tachycardia

G. Pierpont, M. Pierpont, J. Foker, 1993, Basic Research in Cardiology.

Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.

J. Neglia, T. Young, M. Pierpont, 1998, American journal of medical genetics.

Two-dimensional echocardiography in detection of endocardial cushion defect in families.

E. Kaplinsky, M. Pierpont, J. Bass, 1985, The American journal of cardiology.

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

E. I. Pierpont, M. Pierpont, D. Nascene, 2018, BMC medical genetics.

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

K. Boycott, A. Bergen, M. Pierpont, 2001, Human Genetics.

Influence of Aortic Stiffness on Aortic-Root Growth Rate and Outcome in Patients With the Marfan Syndrome.

S. Colan, L. Sleeper, G. Pearson, 2018, The American journal of cardiology.

Linkage analysis of autosomal dominant atrio ventricular canal defects: exclusion of chromosome 21

V. Sheffield, S. Patil, R. Lauer, 1994, Human Genetics.

Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome.

R. Gorlin, M. Pierpont, F. Stewart, 1998, American journal of medical genetics.

Acute effects of amrinone on regional myocardial and systemic blood flow distribution in the dog.

J. White, M. Pierpont, S. Einzig, 1982, Canadian journal of physiology and pharmacology.

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Michael A. Burke, N. Brown, P. Lockhart, 2020, American heart journal.

Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children

J. Marín-García, M. Pierpont, M. Goldenthal, 2000, Journal of Inherited Metabolic Disease.

Randomized trial of atenolol versus losartan in children and young adults with Marfan syndrome

S. Colan, S. B. Wechsler, H. Dietz, 2014 .

Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome.

R. Gorlin, M. Pierpont, J. Coad, 1997, American journal of medical genetics.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .

A point mutation in the cytb gene of cardiac mtDNA associated with Complex III deficiency in ischemic cardiomyopathy

J. Marín-García, G. Pierpont, M. Pierpont, 1996, Biochemistry and molecular biology international.

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

W. Chung, J. Priest, W. Pu, 2018, Circulation.

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations

E. I. Pierpont, M. Semrud-Clikeman, M. Pierpont, 2017, American journal of medical genetics. Part A.

The language phenotype of children and adolescents with Noonan syndrome.

Mark S. Seidenberg, E. I. Pierpont, S. Ellis Weismer, 2010, Journal of speech, language, and hearing research : JSLHR.

Children with Thoracic Aortic Aneurysm: Challenges in Diagnosis and Therapy.

M. Pierpont, R. Lacro, 2015, The Journal of pediatrics.