Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Autor: Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy., Clift P; Adult Congenital Heart Disease Unit, University Hospitals Birmingham, Birmingham, UK., Learn C; Adult Congenital Heart Disease Program, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Dykes JC; Departments of Pediatrics, Stanford, California, USA., Mercer CL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton, UK., Callewaert B; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Pediatrics, Ghent University Hospital, Ghent, Belgium., Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Bruno I; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Gillespie MJ; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dorfman AT; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Grimberg A; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lindsay ME; Department of Pediatrics, Division of Pediatric Cardiology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Cardiovascular Research Center, Division of Cardiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Lin AE; Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 May; Vol. 188 (5), pp. 1384-1395. Date of Electronic Publication: 2022 Jan 13.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Autor: Karolak JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-781 Poznan, Poland., Vincent M; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Deutsch G; Department of Pathology, Seattle Children's Hospital, Seattle, WA 98105, USA., Gambin T; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland; Institute of Computer Science, Warsaw University of Technology, 00-665 Warsaw, Poland., Cogné B; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Pichon O; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France., Vetrini F; Baylor Genetics, Houston, TX 77021, USA., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA., Dines JN; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA., Golden-Grant K; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Dipple K; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Freed AS; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA., Leppig KA; Genetic Services Kaiser Permanente of Washington, Seattle, WA 98112, USA., Dishop M; Pathology and Laboratory Medicine, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick Sydney, NSW 2031 Australia; School of Women's and Children's Health, The University of New South Wales, Sydney, NSW 2052, Australia., Bennetts B; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; Molecular Genetics Department, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia., Gifford AJ; School of Women's and Children's Health, The University of New South Wales, Sydney, NSW 2052, Australia; Department of Anatomical Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia., Weber MA; Department of Anatomical Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia; School of Medical Sciences, University of New South Wales, Sydney, NSW 2052, Australia., Lee AF; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada., Boerkoel CF; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Bartell TM; Department of Genetics, Kaiser Permanente Sacramento Medical Center, Sacramento, CA 95815, USA., Ward-Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH 44302, USA., Besnard T; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Petit F; Service de Génétique Clinique, CHU Lille, 59000 Lille, France., Bache I; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 N Copenhagen, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Ø Copenhagen, Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Copenhagen, Denmark; Deparment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 N, Copenhagen, Denmark., Denis-Musquer M; Service d'anatomo-pathologie, CHU Nantes, 44093 Nantes, France., Joubert M; Service d'anatomo-pathologie, CHU Nantes, 44093 Nantes, France., Martinovic J; Unit of Fetal Pathology, AP-HP, Antoine Beclere Hospital, 75000 Paris, France., Bénéteau C; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Molin A; Service de Génétique Médicale, CHU Caen, 14000 Caen, France., Carles D; Service d'anatomo-pathologie, CHU Bordeaux, 33000 Bordeaux, France., André G; Service d'anatomo-pathologie, CHU Bordeaux, 33000 Bordeaux, France., Bieth E; Service de génétique médicale, CHU Toulouse, France and UDEAR, UMR 1056 Inserm - Université de Toulouse, 31000 Toulouse, France., Chassaing N; Service de génétique médicale, CHU Toulouse, France and UDEAR, UMR 1056 Inserm - Université de Toulouse, 31000 Toulouse, France., Devisme L; Institut de Pathologie, CHU Lille, 59000 Lille, France., Chalabreysse L; Service d'anatomo-pathologie, CHU Lyon, 69000 Lyon, France., Pasquier L; Service de génétique médicale, CHU Rennes, 35000 Rennes, France., Secq V; Aix Marseille Univ, APHM, Hôpital Nord, Service d'anatomo-pathologie, 13000 Marseille, France., Don M; Sant'Antonio General Hospital, Pediatric Care Unit, San Daniele del Friuli, 33100 Udine, Italy., Orsaria M; Department of Medical and Biological Sciences, Pathology Unit, University of Udine, Udine, Italy., Missirian C; Aix Marseille Univ, APHM, INSERM, MMG, Marseille, Timone Hospital, 13000 Marseille, France., Mortreux J; Aix Marseille Univ, APHM, INSERM, MMG, Marseille, Timone Hospital, 13000 Marseille, France., Sanlaville D; Hospices Civils de Lyon, GHE, Genetics department, and Lyon University, 69000 Lyon, France., Pons L; Hospices Civils de Lyon, GHE, Genetics department, and Lyon University, 69000 Lyon, France., Küry S; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Bézieau S; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Liet JM; Service de réanimation pédiatrique, CHU Nantes, 44000 Nantes, France., Joram N; Service de réanimation pédiatrique, CHU Nantes, 44000 Nantes, France., Bihouée T; Service de pédiatrie, CHU Nantes, 44000 Nantes, France., Scott DA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Brown CW; Department of Pediatrics, Genetics Division, University of Tennessee Health Science Center, Memphis, TN 38163, USA., Scaglia F; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, New Territories, Hong Kong SAR., Tsai AC; Department of Pediatrics, The Children's Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA., Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA., Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Pfotenhauer JP; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Gonzaga-Jauregui CG; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc. Tarrytown, NY 10599, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA., Schauer GM; Department of Pathology, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA., Lipson MH; Department of Genetics, Kaiser Permanente Sacramento Medical Center, Sacramento, CA 95815, USA., Mercer CL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton SO16 5YA, UK., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Liu Q; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA., Coban Akdemir ZH; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Le Caignec C; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France. Electronic address: cedric.lecaignec@chu-nantes.fr., Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address: pawels@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 Feb 07; Vol. 104 (2), pp. 213-228. Date of Electronic Publication: 2019 Jan 10.

Chromosome 5q33 deletions associated with congenital heart defects.

Autor: Starkovich M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Mercer CL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3338-3342. Date of Electronic Publication: 2016 Sep 02.

A unifying model that explains the origins of human inverted copy number variants.

Autor: Brewer, Bonita J.¹ (AUTHOR) bbrewer@uw.edu, Dunham, Maitreya J.¹ (AUTHOR), Raghuraman, M. K.¹ (AUTHOR)

Publikováno v: PLoS Genetics. 1/4/2024, Vol. 20 Issue 1, p1-17. 17p.

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Autor: Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR, Wilson DI, Mital S, Hurles ME

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 Mar 03; Vol. 98 (3), pp. 592. Date of Electronic Publication: 2016 Mar 03.