Philippe M. Campeau

Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States

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Papers24 papers

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Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Lina Moisan, David Iannuzzi,Bruno Maranda,Philippe M Campeau,John J Mitchell

ORPHANET JOURNAL OF RARE DISEASES, no. 1 (2020): 270

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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

Norbert F Ajeawung, Thi Tuyet Mai Nguyen, Linchao Lu, Thomas J Kucharski,Justine Rousseau, Sirinart Molidperee, Joshua Atienza, Isabel Gamache,Weidong Jin,Sharon E Plon,Brendan H Lee,Jose G Teodoro

AMERICAN JOURNAL OF HUMAN GENETICS, no. 3 (2019): 625-630

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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortum, Viviana Caputo,Christiane K Bauer,Lorenzo Stella,Andrea Ciolfi,Malik Alawi,Gianfranco Bocchinfuso,Elisabetta Flex,Stefano Paolacci,Maria Lisa Dentici,Paola Grammatico,Georg Christoph Korenke

NATURE GENETICS, no. 6 (2015): 661.0-667

Cited by77Bibtex

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Jordan Lernerellis,Marina Wang,Shana White,Matthew S Lebo, Ron Agatep,Peter Ainsworth, M Akbari,Melyssa Aronson,Gary D Bader,Raveen K Basran, Andre Blavier, Andrea Blumenthal

JOURNAL OF MEDICAL GENETICS, no. 7.0 (2015): 438-445

Cited by20WOSBibtex

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm,Kerstin Kutsche, Viviana Caputo,Stefano Paolacci,Antonio Pizzuti,Christiane K Bauer,Lorenzo Stella,Gianfranco Bocchinfuso,Andrea Ciolfi, Elisabetta Flex,Stefano Paolacci, Marco Tartaglia

NATURE GENETICS, no. 6 (2015): 661.0-667

Cited by68WOSNATUREBibtex

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

Florin Sasarman,Catalina Maftei,Philippe M. Campeau,Catherine Brunel-Guitton,Grant A. Mitchell,Pierre Allard

Journal of Inherited Metabolic Disease, no. 2.0 (2015): 1-16

Cited by8Bibtex

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers: A cross-sectional multi-center study of OI

R M Patel, Sandesh C S Nagamani,David Cuthbertson,Philippe M Campeau,Jeffrey P Krischer, Jay R Shapiro,Robert D Steiner, Peter A Smith, Michael B Bober,Peter H Byers, M Pepin, M Durigova

Clinical Genetics, (2015)

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FBN1 contributing to familial congenital diaphragmatic hernia: FBN1 CDH

Shalini N Jhangiani, Tomasz Gambin, Alexander H Li, Reem Abozahrah, Valerie K Jordan, Andres Hernandezgarcia,Wojciech Wiszniewski,Richard A Gibbs,Eric Boerwinkle,James R Lupski,Brendan Lee, W Reardon

American Journal of Medical Genetics Part A, (2015)

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TBC1D24-Related Disorders

Bettina E Mucha,Raoul C Hennekam,Sanjay M Sisodiya,Philippe M Campeau

(2015)

Cited by10Bibtex

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome: AMERICAN JOURNAL OF MEDICINE PART C (SEMINARS IN MEDICAL GENETICS)

Philippe M Campeau,Raoul C Hennekam

American Journal of Medical Genetics Part C-seminars in Medical Genetics, (2014)

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Genotype-Phenotype Correlation: Promiscuity in the Era of Next-Generation Sequencing

Brendan H Lee,Philippe M Campeau,James T Lu

Obstetrical & Gynecological Survey, (2014)

Cited by52Bibtex

KAT6B-Related Disorders

Philippe M Campeau,Brendan H Lee

(2013)

Cited by11Bibtex

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation: PHENOTYPIC VARIABILITY OF OI TYPE V CAUSED BY AN IFITM5 MUTATION

Brendan H Lee,Philippe M Campeau, Pamela Melvin,Richard A Gibbs, Yimei Wu, Fengshu Brennen, Timothy T Roberts, Maria Blazo,Daniel H Cohn, Matthew N Bainbridge, Dustin Baldridge, Brian Dawson

Journal of Bone and Mineral Research, (2013)

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Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase