Elaine H Zackai

Elaine H Zackai

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Elaine H Zackai

Elaine H Zackai

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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.

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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:

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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.

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http://dx.doi.org/10.1002/ajmg.a.61284DOI 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.

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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.

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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
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.

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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.

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

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

Am J Med Genet A 2019 Mar 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

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 Mar 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:

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

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

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.

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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.

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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

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

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

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:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211183002
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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.

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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.

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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.

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

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

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

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

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

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

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:

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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.

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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.

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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

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.

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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.

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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

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.

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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.).

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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.

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

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.

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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.

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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

Increasing cumulative exposure to volatile anesthetic agents is associated with poorer neurodevelopmental outcomes in children with hypoplastic left heart syndrome.

J Thorac Cardiovasc Surg 2016 08 18;152(2):482-9. Epub 2016 Apr 18.

Department of Anesthesia and Critical Care Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jtcvs.2016.03.095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5662941PMC
August 2016

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

Am J Med Genet A 2015 Dec 21;167A(12):3091-5. Epub 2015 Jul 21.

Department of Pathology & Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715567PMC
December 2015

Atypical Williams syndrome in an infant with complete atrioventricular canal defect.

Am J Med Genet A 2015 Dec 14;167A(12):3108-12. Epub 2015 Aug 14.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37288DOI Listing
December 2015

22q11.2 deletion syndrome.

Nat Rev Dis Primers 2015 11 19;1:15071. Epub 2015 Nov 19.

The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, and Clinical Genetics Research Program, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada.

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http://www.nature.com/articles/nrdp201571
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http://dx.doi.org/10.1038/nrdp.2015.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471PMC
November 2015

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.

Am J Med Genet A 2015 Nov 25;167A(11):2497-502. Epub 2015 Jun 25.

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

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http://dx.doi.org/10.1002/ajmg.a.37217DOI Listing
November 2015

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Am J Med Genet A 2015 Nov 25;167A(11):2548-54. Epub 2015 Jun 25.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37221DOI Listing
November 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

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Am J Med Genet A 2015 Sep 25;167A(9):2168-75. Epub 2015 Apr 25.

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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http://dx.doi.org/10.1002/ajmg.a.37126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833020PMC
September 2015

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Hum Mol Genet 2015 Aug 13;24(15):4443-53. Epub 2015 May 13.

Department of Pediatrics, Section of Clinical Genetics and Metabolism and, Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, CO, USA,

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http://dx.doi.org/10.1093/hmg/ddv180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492403PMC
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

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

Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.

Am J Med Genet A 2015 Jun 21;167(6):1414-7. Epub 2015 Apr 21.

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

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http://dx.doi.org/10.1002/ajmg.a.36975DOI Listing
June 2015

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Am J Med Genet A 2015 May 27;167A(5):1061-70. Epub 2015 Feb 27.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/ajmg.a.36973DOI Listing
May 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

Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies.

Am J Med Genet A 2015 Apr 23;167A(4):862-5. Epub 2015 Feb 23.

Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.37013
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http://dx.doi.org/10.1002/ajmg.a.37013DOI Listing
April 2015

Melorheostosis: segmental osteopoikilosis or a separate entity?

J Pediatr Orthop 2015 Mar;35(2):e13-7

*Division of Orthopaedic Surgery ‡Department of Genetics, The Children's Hospital of Philadelphia †Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1097/BPO.0000000000000384DOI Listing
March 2015

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.

Am J Med Genet A 2015 Mar 21;167A(3):617-20. Epub 2015 Jan 21.

Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36915DOI Listing
March 2015

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Am J Hum Genet 2015 Mar 26;96(3):507-13. Epub 2015 Feb 26.

Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419PMC
March 2015

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Am J Med Genet A 2015 Feb 13;167A(2):271-81. Epub 2014 Nov 13.

Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, and Sidney Kimmel Medical School at T. Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589071PMC
February 2015

Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.

J Am Acad Child Adolesc Psychiatry 2014 Sep 19;53(9):991-1000.e2. Epub 2014 Jun 19.

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address:

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http://dx.doi.org/10.1016/j.jaac.2014.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159384PMC
September 2014

22q11.2 Deletion syndrome and obstructive sleep apnea.

Int J Pediatr Otorhinolaryngol 2014 Aug 6;78(8):1360-4. Epub 2014 Jun 6.

Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

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http://dx.doi.org/10.1016/j.ijporl.2014.05.031DOI Listing
August 2014

Patient genotypes impact survival after surgery for isolated congenital heart disease.

Ann Thorac Surg 2014 Jul 6;98(1):104-10; discussion 110-1. Epub 2014 May 6.

Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, Washington; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington. Electronic address:

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http://dx.doi.org/10.1016/j.athoracsur.2014.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083015PMC
July 2014

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

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http://www.nature.com/articles/ncomms5483
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http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
July 2014