Elaine Zackai

Elaine Zackai

UNVERIFIED PROFILE

Are you Elaine Zackai?   Register this Author

Register author
Elaine Zackai

Elaine Zackai

Publications by authors named "Elaine Zackai"

Are you Elaine Zackai?   Register this Author

99Publications

3678Reads

41Profile Views

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2017.08.028DOI Listing
November 2019

Corrigendum to "The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome" [J. Psychiatr. Res. 92 (2017) 124-131].

J Psychiatr Res 2019 Nov 21;118. Epub 2019 Aug 21.

Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpsychires.2019.08.007DOI Listing
November 2019

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 Nov 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.

Am J Med Genet A 2019 Oct 9;179(10):2144-2151. Epub 2019 Jul 9.

Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61284DOI Listing
October 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.

Clin Genet 2019 Oct 24. Epub 2019 Oct 24.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13660DOI Listing
October 2019

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

Am J Med Genet A 2019 Aug 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.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61199
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61199DOI Listing
August 2019

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

Birth Defects Res 2019 Aug 20;111(13):888-905. Epub 2019 Jun 20.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdr2.1534DOI Listing
August 2019

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.

Am J Med Genet A 2019 Jun 28;179(6):1063-1068. Epub 2019 Mar 28.

Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61121
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61121DOI Listing
June 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

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.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Correction: 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.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0326-8
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 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.

View Article

Download full-text PDF

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

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Robinow syndrome: a diagnosis at the fingertips.

Clin Dysmorphol 2018 Oct;27(4):135-137

Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126946PMC
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.

Epilepsy Res 2018 09 18;145:89-92. Epub 2018 Jun 18.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology & Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09201211183002
Publisher Site
http://dx.doi.org/10.1016/j.eplepsyres.2018.06.008DOI Listing
September 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome.

Ophthalmic Genet 2018 06 10;39(3):399-404. Epub 2018 Apr 10.

a Scheie Eye Institute at the Perelman Center for Advanced Medicine , University of Pennsylvania , Philadelphia , PA , USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2018.1459735DOI Listing
June 2018

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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.).

View Article

Download full-text PDF

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

The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

J Psychiatr Res 2017 09 15;92:124-131. Epub 2017 Apr 15.

Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpsychires.2017.04.006DOI Listing
September 2017

CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.

Am J Med Genet A 2017 Aug 15;173(8):2101-2107. Epub 2017 May 15.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38277DOI Listing
August 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 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.

View Article

Download full-text PDF

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

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

Genet Med 2017 06 20;19(6):715-718. Epub 2016 Oct 20.

Division of Genomic Diagnostics and Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095193PMC
June 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:

View Article

Download full-text PDF

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

10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.

Am J Med Genet A 2017 Mar;173(3):762-765

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38080DOI Listing
March 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.).

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

Am J Med Genet A 2016 12 29;170(12):3333-3337. Epub 2016 Aug 29.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37956DOI Listing
December 2016

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit.

Am J Med Genet A 2016 12 8;170(12):3090-3097. Epub 2016 Sep 8.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37891DOI Listing
December 2016

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.

View Article

Download full-text PDF

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

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva.

Pediatr Radiol 2016 Oct 4;46(11):1568-72. Epub 2016 Aug 4.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, Aichi, 466-8550, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-016-3662-3DOI Listing
October 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:

View Article

Download full-text PDF

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