Publications by authors named "Donna McDonald-McGinn"

99Publications

Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures.

Int J Pediatr Otorhinolaryngol 2020 Jul 20;138:110236. Epub 2020 Jul 20.

Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2020.110236DOI Listing
July 2020

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.

Am J Med Genet B Neuropsychiatr Genet 2020 09 27;183(6):392-400. Epub 2020 Jul 27.

Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.b.32812DOI Listing
September 2020

The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome.

J Clin Immunol 2020 Jul 25;40(5):783-785. Epub 2020 Jun 25.

Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10875-020-00807-5DOI Listing
July 2020

22q11.2 deletion - a tiny piece leading to a big picture.

Nat Rev Dis Primers 2020 04 23;6(1):33. Epub 2020 Apr 23.

Division of Human Genetics, Children's Hospital of Philadelphia and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41572-020-0169-xDOI Listing
April 2020

Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety.

Am J Med Genet A 2020 07 17;182(7):1815-1818. Epub 2020 Apr 17.

Division of Allergy Immunology, The Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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http://dx.doi.org/10.1002/ajmg.a.61588DOI Listing
July 2020

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.

Am J Psychiatry 2020 07 12;177(7):589-600. Epub 2020 Feb 12.

Imaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, Los Angeles (Ching, Villalon Reina, Zavaliangos-Petropulu, Thompson); Department of Biomedical Engineering, Armour College of Engineering, Illinois Institute of Technology, Chicago (Gutman); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, Los Angeles (Ching, Sun, Lin, Jonas, Pacheco-Hansen, Vajdi, Forsyth, Bearden); Department of Psychology, UCLA, Los Angeles (Ching, Forsyth, Bearden); Department of Biomedical Engineering, Oregon Health and Science University, Portland (Ragothaman); Department of Biomedical Engineering, Duke University, Durham, N.C. (Isaev); Graduate Interdepartmental Program in Neuroscience, UCLA School of Medicine, Los Angeles (Lin, Jonas); Department of Psychiatry, University of Pittsburgh, Pittsburgh (Jalbrzikowski); Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, the Netherlands (Bakker, van Amelsvoort); Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers, Amsterdam (Bakker); Department of Psychology, Syracuse University, Syracuse, N.Y. (Antshel); Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse (Fremont, Kates); School of Psychology, University of Newcastle, Newcastle, Australia (Campbell, McCabe); MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis (McCabe, Durdle, Goodrich-Hunsaker, Simon); Institute of Psychiatry, Psychology, and Neuroscience, Sackler Institute for Translational Neurodevelopment, and Department of Forensic and Neurodevelopmental Sciences, King's College London (Craig, Daly, Gudbrandsen, C.M. Murphy, D.G. Murphy); Bethlem Royal Hospital, National Institute for Health Research Maudsley Biomedical Research Centre, and SLaM NHS Foundation Trust, National Autism Unit, London (Craig); Behavioural Genetics Clinic, Adult Autism Service, Behavioural and Developmental Psychiatry Clinical Academic Group, South London and Maudsley NHS Foundation Trust, London (C.M. Murphy, D.G. Murphy); Department of Psychiatry, Royal College of Surgeons in Ireland, and Education and Research Centre, Beaumont Hospital, Dublin (K.C. Murphy); Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (Fiksinski, Koops, Vorstman); Clinical Genetics Research Program (Bassett, Fiksinski, Chow), Clinical Genetics Service (Chow), Campbell Family Mental Health Research Institute (Bassett), Centre for Addiction and Mental Health, Toronto; Dalglish Family 22q Clinic (Bassett, Fiksinski), Department of Mental Health, and Toronto General Hospital Research Institute (Bassett); University Health Network, Toronto (Fiksinski, Bassett); Department of Psychiatry, University of Toronto, Toronto (Bassett, Vorstman, Chow); Program in Genetics and Genome Biology, Research Institute, and Department of Psychiatry, Hospital for Sick Children, Toronto (Vorstman); Division of Human Genetics and 22q and You Center, Children's Hospital of Philadelphia, Philadelphia (Crowley, Emanuel, McDonald-McGinn, Zackai); Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia (Emanuel, McDonald-McGinn, Zackai); Department of Psychiatry, University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia, Philadelphia (Gur); Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia (Roalf, Ruparel); Departments of Radiology and Psychiatry, Hospital of the University of Pennsylvania, Philadelphia (Schmitt); Department of Psychological and Brain Sciences, University of California, Santa Barbara (Durdle); Department of Neurology, University of Utah, Salt Lake City (Goodrich-Hunsaker); Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto (Butcher); Department Psychiatry, University of British Columbia, Vancouver (Vila-Rodriguez); MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, U.K. (Cunningham, Doherty, Linden, Moss, Owen, van den Bree); Cardiff University Brain Research Imaging Centre, Cardiff, U.K. (Doherty, Linden); Department of Psychiatry, Pontificia Universidad Católica de Chile, Santiago (Crossley); Clinica Alemana, Universidad del Desarrollo, Centro de Genética y Genomica, Facultad de Medicina, Santiago (Repetto); Departments of Neurology, Psychiatry, Radiology, Engineering, Pediatrics, and Ophthalmology, University of Southern California, Los Angeles (Thompson).

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http://dx.doi.org/10.1176/appi.ajp.2019.19060583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419015PMC
July 2020

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 2020

The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis.

Spine J 2020 Jun 18;20(6):956-963. Epub 2020 Jan 18.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada M5G 2N2; The Dalglish Family 22q Clinic for Adults, University Health Network, 200 Elizabeth St, Toronto, ON, Canada; Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, 585 University Ave, Toronto, ON, Canada M5G 2N2; Division of Cardiology, Department of Medicine, University Health Network, Toronto, ON, Canada; Toronto General Research Institute and Campbell Family Mental Health Research Institute, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.spinee.2020.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246162PMC
June 2020

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.

Am J Speech Lang Pathol 2019 08 22;28(3):984-999. Epub 2019 Jul 22.

Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1044/2019_AJSLP-16-0147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6802924PMC
August 2019

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Am J Med Genet A 2019 08 20;179(8):1442-1450. Epub 2019 May 20.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61199
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http://dx.doi.org/10.1002/ajmg.a.61199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959001PMC
August 2019

The 22q11.2 deletion syndrome as a model for idiopathic scoliosis - A hypothesis.

Med Hypotheses 2019 Jun 27;127:57-62. Epub 2019 Mar 27.

Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.mehy.2019.03.024DOI Listing
June 2019

Palatal evaluation and treatment in 22q11.2 deletion syndrome.

Am J Med Genet A 2019 07 30;179(7):1184-1195. Epub 2019 Apr 30.

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61152
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http://dx.doi.org/10.1002/ajmg.a.61152DOI Listing
July 2019

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.

Am J Med Genet A 2019 03 24;179(3):381-385. Epub 2018 Dec 24.

Division of Urology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.61020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491205PMC
March 2019

Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns.

Int J Pediatr Otorhinolaryngol 2019 Jan 12;116:43-48. Epub 2018 Oct 12.

The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1016/j.ijporl.2018.10.016DOI Listing
January 2019

Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome.

Am J Med Genet B Neuropsychiatr Genet 2018 12 16;177(8):765-773. Epub 2018 Nov 16.

Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.b.32690DOI Listing
December 2018

22q11.2 deletion syndrome: A tiny piece leading to a big picture.

Am J Med Genet A 2018 10;176(10):2055-2057

22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.40653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472263PMC
October 2018

Molecular genetics of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10;176(10):2070-2081

Institute of Child Health, University College London, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.40504
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http://dx.doi.org/10.1002/ajmg.a.40504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214629PMC
October 2018

Club foot in association with the 22q11.2 deletion syndrome: An observational study.

Am J Med Genet A 2018 10;176(10):2135-2139

Division of Human Genetics and 22q and You Center, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.40649
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http://dx.doi.org/10.1002/ajmg.a.40649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221052PMC
October 2018

Neurologic challenges in 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10 26;176(10):2140-2145. Epub 2018 Oct 26.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.38614
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http://dx.doi.org/10.1002/ajmg.a.38614DOI Listing
October 2018

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10 1;176(10):2099-2103. Epub 2018 Oct 1.

Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.40495
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http://dx.doi.org/10.1002/ajmg.a.40495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467273PMC
October 2018

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Am J Med Genet A 2018 10 23;176(10):2203-2214. Epub 2018 Sep 23.

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.40494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467269PMC
October 2018

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

Am J Med Genet A 2018 10 19;176(10):2146-2159. Epub 2018 May 19.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209527PMC
October 2018

Scoliosis in association with the 22q11.2 deletion syndrome: an observational study.

Arch Dis Child 2019 01 7;104(1):19-24. Epub 2018 Apr 7.

Division of Human Genetics and 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://adc.bmj.com/lookup/doi/10.1136/archdischild-2018-3147
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http://dx.doi.org/10.1136/archdischild-2018-314779DOI Listing
January 2019

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 04;176(4):936-944

The Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873609PMC
April 2018

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.

J Thorac Cardiovasc Surg 2018 03 7;155(3):1139-1147.e2. Epub 2017 Dec 7.

Division of Cardiothoracic Surgery, The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jtcvs.2017.08.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931363PMC
March 2018

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

Eur J Med Genet 2018 Jul 12;61(7):411-415. Epub 2018 Feb 12.

The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ejmg.2018.02.006DOI Listing
July 2018

Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.

Cleft Palate Craniofac J 2018 02 14;55(2):296-300. Epub 2017 Dec 14.

1 Division of Plastic Surgery, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/1055665617723918DOI Listing
February 2018

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10 17;176(10):2082-2086. Epub 2018 Jan 17.

The Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470357PMC
October 2018

Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.

Am J Med Genet A 2018 10 21;176(10):2104-2120. Epub 2017 Nov 21.

Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38545DOI Listing
October 2018

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

Schizophr Bull 2018 06;44(4):824-833

Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1093/schbul/sbx113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007411PMC
June 2018

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

J Allergy Clin Immunol Pract 2018 Mar - Apr;6(2):690-691. Epub 2017 Sep 28.

Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, the Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jaip.2017.08.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956571PMC
November 2019

The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.

Am J Med Genet A 2018 10 22;176(10):2121-2127. Epub 2017 Sep 22.

Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38474DOI Listing
October 2018

White matter microstructural deficits in 22q11.2 deletion syndrome.

Psychiatry Res Neuroimaging 2017 Oct 24;268:35-44. Epub 2017 Aug 24.

Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA; Lifespan Brain Institute (LiBI) at the University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.pscychresns.2017.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814141PMC
October 2017

A human case of SLC35A3-related skeletal dysplasia.

Am J Med Genet A 2017 Oct 4;173(10):2758-2762. Epub 2017 Aug 4.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38374DOI Listing
October 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.

From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1176/appi.ajp.2017.16121417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665703PMC
November 2017

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.

J Clin Immunol 2017 Jul 24;37(5):476-485. Epub 2017 May 24.

The 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10875-017-0403-9DOI Listing
July 2017

Association of airway abnormalities with 22q11.2 deletion syndrome.

Int J Pediatr Otorhinolaryngol 2017 May 21;96:11-14. Epub 2017 Feb 21.

22q and You and Clinical Genetics Centers, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.02.012DOI Listing
May 2017

Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births.

J Thorac Cardiovasc Surg 2017 07 21;154(1):273-281.e2. Epub 2017 Feb 21.

Division of Cardiothoracic Surgery, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jtcvs.2017.02.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481170PMC
July 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.

Schizophr Res 2017 10 29;188:42-49. Epub 2016 Dec 29.

The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.schres.2016.12.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496790PMC
October 2017

The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths.

Biol Psychiatry 2017 07 8;82(1):17-25. Epub 2016 Sep 8.

Department of Psychiatry, Philadelphia, Pennsylvania; Department of Child and Adolescent Psychiatry, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.biopsych.2016.08.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5342951PMC
July 2017

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.

Am J Med Genet A 2017 Jan 28;173(1):135-142. Epub 2016 Sep 28.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37980DOI Listing
January 2017

Disrupted anatomic networks in the 22q11.2 deletion syndrome.

Neuroimage Clin 2016 25;12:420-8. Epub 2016 Aug 25.

Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Radiology, Division of Neuroradiology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.nicl.2016.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008050PMC
November 2017

IQ and hemizygosity for the Val Met functional polymorphism of COMT in 22q11DS.

Am J Med Genet B Neuropsychiatr Genet 2016 12 13;171(8):1112-1115. Epub 2016 Sep 13.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.b.32492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733517PMC
December 2016

Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.

Eur Neuropsychopharmacol 2016 10 12;26(10):1610-8. Epub 2016 Aug 12.

Sackler Faculty of Medicine, Tel Aviv University, Israel; The Child Psychiatry Unit, Edmond and Lily Sapfra Children׳s Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.euroneuro.2016.08.003DOI Listing
October 2016

The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome.

Prenat Diagn 2017 Jan 25;37(1):53-60. Epub 2016 Jul 25.

Division of Human Genetics, 22q and You Center and Clinical Genetics Center, The Children's Hospital of Philadelphia, and the Department of Pediatrics, The Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/pd.4864DOI Listing
January 2017

Ocular findings associated with chromosome 22q11.2 duplication.

J AAPOS 2016 06 22;20(3):278-80. Epub 2016 Apr 22.

Division of Ophthalmology, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1016/j.jaapos.2016.02.003DOI Listing
June 2016

Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.

Am J Med Genet A 2016 06 8;170(6):1630-4. Epub 2016 Apr 8.

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37648DOI Listing
June 2016

B cell development in chromosome 22q11.2 deletion syndrome.

Clin Immunol 2016 Feb 10;163:1-9. Epub 2015 Dec 10.

Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2015.12.004DOI Listing
February 2016

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.

Am J Hum Genet 2015 Dec 19;97(6):869-77. Epub 2015 Nov 19.

Department of Genetics, Albert Einstein College of Medicine, Yeshiva University, Bronx, NY 10461, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678435PMC
December 2015

Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome.

J Clin Psychiatry 2015 Oct;76(10):e1262-70

Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce St, 10th Floor Gates Pavilion, Philadelphia, PA 19104

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http://dx.doi.org/10.4088/JCP.14m09197DOI Listing
October 2015

New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis.

J Craniofac Surg 2015 Jul;26(5):1564-7

*Division of Plastic Surgery, Riley Hospital for Children, Indianapolis IN †Division of Plastic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA ‡Division of Plastic Surgery, Seattle Children's Hospital, Seattle, WA.

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http://dx.doi.org/10.1097/SCS.0000000000001884DOI Listing
July 2015

Developmental trajectories in 22q11.2 deletion.

Am J Med Genet C Semin Med Genet 2015 Jun 18;169(2):172-81. Epub 2015 May 18.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061035PMC
http://dx.doi.org/10.1002/ajmg.c.31435DOI Listing
June 2015

Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.

Am J Med Genet A 2015 Apr 23;167A(4):852-7. Epub 2015 Feb 23.

Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36985DOI Listing
April 2015

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Am J Hum Genet 2015 Feb;96(2):235-44

Department of Genetics, Albert Einstein College of Medicine, Yeshiva University, Bronx, NY 10461, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.12.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320261PMC
February 2015

Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Genet Med 2015 Aug 8;17(8):599-609. Epub 2015 Jan 8.

1] The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada [2] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [3] Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada [4] Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada [5] Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada [6] Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [7] Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2014.175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526275PMC
August 2015

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome.

Biol Psychiatry 2015 Jul 21;78(2):135-43. Epub 2014 Nov 21.

Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania; Department of Radiology, Hospital of the University of Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2014.10.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446247PMC
July 2015