High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet 2017 Nov;101(5):664-685
Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses.
Spine (Phila Pa 1976) 2017 Jul;42(14):E841-E847
*CHU Sainte-Justine Research Center, Montreal, Quebec, Canada †Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada ‡Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada.

FHF1 (FGF12) epileptic encephalopathy.
Neurol Genet 2016 Dec 28;2(6):e115. Epub 2016 Oct 28.
Program in Genetics and Genome Biology and Division of Neurology (S.A.-M., B.A.M.), Department of Paediatrics, The Hospital for Sick Children, and University of Toronto, Ontario, Canada; Institute of Genetic Medicine (M.S.), International Centre for Life, Pediatric Neurology (V.R.), Newcastle General Hospital, UK; Center for Human Genetics (S.D., K.D.), UH Case Medical Center, Cleveland, OH; Department of Molecular and Human Genetics (F.X., Y.Y., J.A.R.), Baylor College of Medicine, Houston, TX; Baylor Miraca Genetics Laboratories (F.X., Y.Y.), Houston, TX; The Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Division of Neurology (P.C.), CHUM Notre-Dame, Hospital University of Montreal, Quebec, Canada; Department of Pediatrics (J.L.M., P.M.C.), Department of Neurosciences (J.L.M., P.M.C.), Université de Montréal, Québec, Canada; and CHU Sainte-Justine Research Center (J.L.M., F.A.H., P.M.C.), Montreal, Quebec, Canada.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.
Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

A longitudinal study of urea cycle disorders.
Mol Genet Metab 2014 Sep-Oct;113(1-2):127-30. Epub 2014 Aug 10.
Children's Research Institute, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, USA. Electronic address:

Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis.
Am J Physiol Gastrointest Liver Physiol 2014 Aug 5;307(3):G347-54. Epub 2014 Jun 5.
Department of Molecular and Human Genetics, Baylor College of Medicine; Howard Hughes Medical Institute, Houston, Texas

Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.
N Engl J Med 2014 Aug;371(7):593-6
From the Human Genome Sequencing Center and the Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), and the Department of Molecular and Human Genetics (B.H.L)., Baylor College of Medicine; and the Howard Hughes Medical Institutes (B.H.L.) - both in Houston; and the Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal (P.M.C.).

The undernourished neonatal mouse metabolome reveals evidence of liver and biliary dysfunction, inflammation, and oxidative stress.
J Nutr 2014 Mar 31;144(3):273-81. Epub 2013 Dec 31.
Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Eur J Med Genet 2013 Dec 28;56(12):678-82. Epub 2013 Oct 28.
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Mol Genet Metab 2009 Jul 24;97(3):172-8. Epub 2009 Mar 24.
Metabolic Center, Necker Enfants-Malades Hospital, Assistance-Publique-Hôpitaux de Paris, Paris, France.

Mesenchymal stromal cells engineered to express erythropoietin induce anti-erythropoietin antibodies and anemia in allorecipients.
Mol Ther 2009 Feb 16;17(2):369-72. Epub 2008 Dec 16.
The Montreal Center for Experimental Therapeutics in Cancer, Lady Davis Institute for Medical Research, Montreal, Quebec, Canada.

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
Mol Genet Metab Rep 2014 ;1:213-219
Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal; Medical genetics service, Room 6727, Sainte-Justine Hospital, 3175, Côte-Sainte-Catherine, Montréal QC Canada H3T 1C5.