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Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.
Published in:
Schizophrenia Bulletin, 2018, v. 44, n. 4, p. 824, doi. 10.1093/schbul/sbx113
By:
- Niarchou, Maria;
- Calkins, Monica E.;
- Moore, Tyler M.;
- Tang, Sunny X.;
- McDonald-McGinn, Donna M.;
- Zackai, Elaine H.;
- Emanuel, Beverly S.;
- Gur, Ruben C.;
- Gur, Raquel E.
Publication type:
Article
Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.
Published in:
Schizophrenia Bulletin, 2017, v. 43, n. 5, p. 1079, doi. 10.1093/schbul/sbx005
By:
- Weisman, Omri;
- Guri, Yael;
- Gur, Raquel E.;
- McDonald-McGinn, Donna M.;
- Calkins, Monica E.;
- Tang, Sunny X.;
- Emanuel, Beverly;
- Zackai, Elaine H.;
- Eliez, Stephan;
- Schneider, Maude;
- Schaer, Marie;
- Kates, Wendy R.;
- Antshel, Kevin M.;
- Fremont, Wanda;
- Shashi, Vandana;
- Hooper, Stephen R.;
- Armando, Marco;
- Vicari, Stefano;
- Pontillo, Maria;
- Kushan, Leila
Publication type:
Article
Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia.
Published in:
2021
By:
- Li, Jianping;
- Tran, Oanh T.;
- Crowley, T. Blaine;
- Moore, Tyler M.;
- Zackai, Elaine H.;
- Emanuel, Beverly S.;
- McDonald-McGinn, Donna M.;
- Gur, Raquel E.;
- Wallace, Douglas C.;
- Anderson, Stewart A.
Publication type:
journal article
Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome.
Published in:
JAMA Psychiatry, 2015, v. 72, n. 4, p. 377, doi. 10.1001/jamapsychiatry.2014.2671
By:
- Vorstman, Jacob A. S.;
- Breetvelt, Elemi J.;
- Duijff, Sasja N.;
- Eliez, Stephan;
- Schneider, Maude;
- Jalbrzikowski, Maria;
- Armando, Marco;
- Vicari, Stefano;
- Shashi, Vandana;
- Hooper, Stephen R.;
- Chow, Eva W. C.;
- Wai Lun Alan Fung;
- Butcher, Nancy J.;
- Young, Donald A.;
- McDonald-McGinn, Donna M.;
- Vogels, Annick;
- van Amelsvoort, Therese;
- Gothelf, Doron;
- Weinberger, Ronnie;
- Weizman, Abraham
Publication type:
Article
Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 6, p. 392, doi. 10.1002/ajmg.b.32812
By:
- Solot, Cynthia B.;
- Moore, Tyler M.;
- Crowley, Terrence Blaine;
- Gerdes, Marsha;
- Moss, Edward;
- McGinn, Daniel E.;
- Emanuel, Beverly S.;
- Zackai, Elaine H.;
- Gallagher, Sean;
- Calkins, Monica E.;
- Ruparel, Kosha;
- Gur, Ruben C.;
- McDonald‐McGinn, Donna M.;
- Gur, Raquel E.
Publication type:
Article
Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 765, doi. 10.1002/ajmg.b.32690
By:
- Gao, Lucy;
- Tang, Sunny X.;
- Yi, James J.;
- McDonald‐McGinn, Donna M.;
- Zackai, Elaine H.;
- Emanuel, Beverly S.;
- Gur, Ruben C.;
- Calkins, Monica E.;
- Gur, Raquel E.
Publication type:
Article
Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 2, p. 137, doi. 10.1002/ajmg.b.32215
By:
- Yi, James J.;
- Tang, Sunny X.;
- McDonald‐McGinn, Donna M.;
- Calkins, Monica E.;
- Whinna, Daneen A.;
- Souders, Margaret C.;
- Zackai, Elaine H.;
- Goldmuntz, Elizabeth;
- Gaynor, James W.;
- Gur, Ruben C.;
- Emanuel, Beverly S.;
- Gur, Raquel E.
Publication type:
Article
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3694, doi. 10.1002/ajmg.a.62430
By:
- Wenger, Tara L.;
- Perkins, Jonathan;
- Parish‐Morris, Julia;
- Hing, Anne V.;
- Chen, Maida L.;
- Cielo, Christopher M.;
- Li, Dong;
- Bhoj, Elizabeth J.;
- Hakonarson, Hakon;
- Zackai, Elaine;
- McDonald‐McGinn, Donna M.;
- Taylor, Jesse A.;
- Jackson, Oksana;
- Sie, Kathleen;
- Bly, Randall;
- Dahl, John;
- Evans, Kelly N.
Publication type:
Article
Cardiac evaluation of patients with 22q11.2 duplication syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 753, doi. 10.1002/ajmg.a.62032
By:
- Butensky, Adam;
- Rinaldis, Chiara Pandolfi;
- Patel, Shrey;
- Edman, Sharon;
- Bailey, Alice;
- McGinn, Daniel E.;
- Zackai, Elaine;
- Crowley, T. Blaine;
- McDonald‐McGinn, Donna M.;
- Min, Jungwon;
- Goldmuntz, Elizabeth
Publication type:
Article
Muenke syndrome: Medical and surgical comorbidities and long‐term management.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1442, doi. 10.1002/ajmg.a.61199
By:
- Murali, Chaya N.;
- McDonald‐McGinn, Donna M.;
- Wenger, Tara Lynn;
- McDougall, Carey;
- Stroup, Bridget M.;
- Sheppard, Sarah E.;
- Taylor, Jesse;
- Bartlett, Scott P.;
- Bhoj, Elizabeth J.;
- Zackai, Elaine H.;
- Santani, Avni
Publication type:
Article
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 381, doi. 10.1002/ajmg.a.61020
By:
- Van Batavia, Jason P.;
- Crowley, Terrence B.;
- Burrows, Evanette;
- Zackai, Elaine H.;
- Sanna‐Cherchi, Simone;
- McDonald‐McGinn, Donna M.;
- Kolon, Thomas F.
Publication type:
Article
22q11.2 deletion syndrome: A tiny piece leading to a big picture.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2055, doi. 10.1002/ajmg.a.40653
By:
- McDonald‐McGinn, Donna M.
Publication type:
Article
Molecular genetics of 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2070, doi. 10.1002/ajmg.a.40504
By:
- Morrow, Bernice E.;
- McDonald‐McGinn, Donna M.;
- Emanuel, Beverly S.;
- Vermeesch, Joris R.;
- Scambler, Peter J.
Publication type:
Article
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2104, doi. 10.1002/ajmg.a.38545
By:
- Homans, Jelle F.;
- Tromp, Isabel N.;
- Colo, Dino;
- Schlösser, Tom P. C.;
- Kruyt, Moyo C.;
- Deeney, Vincent F. X.;
- Crowley, Terrence B.;
- McDonald‐McGinn, Donna M.;
- Castelein, René M.
Publication type:
Article
Neurologic challenges in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2140, doi. 10.1002/ajmg.a.38614
By:
- Hopkins, Sarah E.;
- Chadehumbe, Madeline;
- Blaine Crowley, Terrence;
- Zackai, Elaine H.;
- Bilaniuk, Larissa T.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2082, doi. 10.1002/ajmg.a.38597
By:
- Crowley, Blaine;
- Ruffner, Melanie;
- McDonald McGinn, Donna M.;
- Sullivan, Kathleen E.
Publication type:
Article
Club foot in association with the 22q11.2 deletion syndrome: An observational study.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2135, doi. 10.1002/ajmg.a.40649
By:
- Homans, Jelle F.;
- Crowley, Terrence B.;
- Chen, Erin;
- McGinn, Daniel E.;
- Deeney, Vincent F. X.;
- Sakkers, Ralph J. B.;
- Davidson, Richard S.;
- Castelein, René M.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2167, doi. 10.1002/ajmg.a.40535
By:
- Grand, Katheryn;
- Levitt Katz, Lorraine E.;
- Crowley, T. Blaine;
- Moss, Edward;
- Lessig, Megan;
- Bamba, Vaneeta;
- Lord, Katherine;
- Zackai, Elaine H.;
- Emanuel, Beverly S.;
- Valverde, Kathleen;
- McDonald‐McGinn, Donna M.
Publication type:
Article
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2203, doi. 10.1002/ajmg.a.40494
By:
- Cohen, Jennifer L.;
- Crowley, Terrence B.;
- McGinn, Daniel E.;
- McDougall, Carey;
- Unolt, Marta;
- Lambert, Michele P.;
- Emanuel, Beverly S.;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2099, doi. 10.1002/ajmg.a.40495
By:
- Rayannavar, Arpana;
- Levitt Katz, Lorraine E.;
- Crowley, Terrence Blaine;
- Lessig, Megan;
- Grand, Katheryn;
- Goldmuntz, Elizabeth;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2121, doi. 10.1002/ajmg.a.38474
By:
- Lambert, Michele P.;
- Arulselvan, Abinaya;
- Schott, Amanda;
- Markham, Stephen J.;
- Crowley, Terrance B.;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2172, doi. 10.1002/ajmg.a.40359
By:
- Zhao, Yingjie;
- Guo, Tingwei;
- Fiksinski, Ania;
- Breetvelt, Elemi;
- McDonald‐McGinn, Donna M.;
- Crowley, Terrence B.;
- Diacou, Alexander;
- Schneider, Maude;
- Eliez, Stephan;
- Swillen, Ann;
- Breckpot, Jeroen;
- Vermeesch, Joris;
- Chow, Eva W. C.;
- Gothelf, Doron;
- Duijff, Sasja;
- Evers, Rens;
- Amelsvoort, Thérèse A.;
- Bree, Marianne;
- Owen, Michael;
- Niarchou, Maria
Publication type:
Article
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2087, doi. 10.1002/ajmg.a.38662
By:
- Unolt, Marta;
- Versacci, Paolo;
- Anaclerio, Silvia;
- Lambiase, Caterina;
- Calcagni, Giulio;
- Trezzi, Matteo;
- Carotti, Adriano;
- Crowley, Terrence Blaine;
- Zackai, Elaine H.;
- Goldmuntz, Elizabeth;
- Gaynor, James William;
- Digilio, Maria Cristina;
- McDonald‐McGinn, Donna M.;
- Marino, Bruno
Publication type:
Article
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1735, doi. 10.1002/ajmg.a.38665
By:
- Schindewolf, Erica;
- Khalek, Nahla;
- Johnson, Mark P.;
- Gebb, Juliana;
- Coleman, Beverly;
- Crowley, Terrence Blaine;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.;
- Moldenhauer, Julie S.
Publication type:
Article
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 936, doi. 10.1002/ajmg.a.38645
By:
- Palmer, Lisa D.;
- Butcher, Nancy J.;
- Boot, Erik;
- Hodgkinson, Kathleen A.;
- Heung, Tracy;
- Chow, Eva W. C.;
- Guna, Alina;
- Crowley, T. Blaine;
- Zackai, Elaine;
- McDonald‐McGinn, Donna M.;
- Bassett, Anne S.
Publication type:
Article
A human case of SLC35A3-related skeletal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2758, doi. 10.1002/ajmg.a.38374
By:
- Edmondson, Andrew C.;
- Bedoukian, Emma C.;
- Deardorff, Matthew A.;
- McDonald‐McGinn, Donna M.;
- Li, Xueli;
- He, Miao;
- Zackai, Elaine H.
Publication type:
Article
Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 135, doi. 10.1002/ajmg.a.37980
By:
- Unolt, Marta;
- DiCairano, Lauren;
- Schlechtweg, Kathryn;
- Barry, Jessica;
- Howell, Lori;
- Kasperski, Stefanie;
- Nance, Michael;
- Adzick, N. Scott;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1630, doi. 10.1002/ajmg.a.37648
By:
- Sullivan, Kathleen E.;
- Burrows, Evanette;
- McDonald McGinn, Donna M.
Publication type:
Article
'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1682, doi. 10.1002/ajmg.a.36860
By:
- Wenger, Tara L.;
- Harr, Margaret;
- Ricciardi, Stefania;
- Bhoj, Elizabeth;
- Santani, Avni;
- Adam, Margaret P.;
- Barnett, Sarah S.;
- Ganetzky, Rebecca;
- McDonald‐McGinn, Donna M.;
- Battaglia, Domenica;
- Bigoni, Stefania;
- Selicorni, Angelo;
- Sorge, Giovanni;
- Monica, Matteo Della;
- Mari, Francesca;
- Andreucci, Elena;
- Romano, Silvia;
- Cocchi, Guido;
- Savasta, Salvatore;
- Malbora, Baris
Publication type:
Article
Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 852, doi. 10.1002/ajmg.a.36985
By:
- Wenger, Tara L.;
- Bhoj, Elizabeth J.;
- Wetmore, Ralph F.;
- Mennuti, Michael T.;
- Bartlett, Scott P.;
- Mollen, Thomas J.;
- McDonald‐McGinn, Donna M.;
- Zackai, Elaine H.
Publication type:
Article
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2557, doi. 10.1002/ajmg.a.36696
By:
- Wenger, Tara L.;
- Harr, Margaret;
- Ricciardi, Stefania;
- Bhoj, Elizabeth;
- Santani, Avni;
- Adam, Margaret P.;
- Barnett, Sarah S.;
- Ganetzky, Rebecca;
- McDonald‐McGinn, Donna M.;
- Battaglia, Domenica;
- Bigoni, Stefania;
- Selicorni, Angelo;
- Sorge, Giovanni;
- Monica, Matteo Della;
- Mari, Francesca;
- Andreucci, Elena;
- Romano, Silvia;
- Cocchi, Guido;
- Savasta, Salvatore;
- Malbora, Baris
Publication type:
Article
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3012, doi. 10.1002/ajmg.a.36119
By:
- Schanze, Denny;
- Harakalova, Magdalena;
- Stevens, Cathy A.;
- Brancati, Francesco;
- Dallapiccola, Bruno;
- Farndon, Peter;
- Ferraz, Victor E. F.;
- McDonald‐McGinn, Donna M.;
- Zackai, Elaine H.;
- Wright, Michael;
- van Lieshout, Stef;
- Vogel, Maartje J.;
- van Haelst, Mieke M.;
- Zenker, Martin
Publication type:
Article
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3150, doi. 10.1002/ajmg.a.36159
By:
- Izumi, Kosuke;
- Lippa, Andrew M.;
- Wilkens, Alisha;
- Feret, Holly A.;
- McDonald‐McGinn, Donna M.;
- Zackai, Elaine H.
Publication type:
Article
Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2665, doi. 10.1002/ajmg.a.35426
By:
- Habel, Alex;
- McGinn, Michael-John;
- Zackai, Elaine H.;
- Unanue, Nancy;
- McDonald-McGinn, Donna M.
Publication type:
Article
Ablepharon-Macrostomia syndrome-Extension of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3060, doi. 10.1002/ajmg.a.34287
By:
- Kallish, Staci;
- McDonald-McGinn, Donna M.;
- van Haelst, Mieke M.;
- Bartlett, Scott P.;
- Katowitz, James A.;
- Zackai, Elaine H.
Publication type:
Article
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Published in:
Nature Genetics, 2002, v. 32, n. 2, p. 285, doi. 10.1038/ng985
By:
- Kondo, Shinji;
- Schutte, Brian C.;
- Richardson, Rebecca J.;
- Bjork, Bryan C.;
- Knight, Alexandra S.;
- Watanabe, Yoriko;
- Howard, Emma;
- Ferreira de Lima, Renata L.L.;
- Daack-Hirsch, Sandra;
- Sander, Achim;
- McDonald-McGinn, Donna M.;
- Zackai, Elaine H.;
- Lammer, Edward J.;
- Aylsworth, Arthur S.;
- Ardinger, Holly H.;
- Lidral, Andrew C.;
- Pober, Barbara R.;
- Moreno, Lina;
- Arcos-Burgos, Mauricio;
- Valencia, Consuelo
Publication type:
Article
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Published in:
Scientific Reports, 2016, p. 19372, doi. 10.1038/srep19372
By:
- Wenger, Tara L.;
- Kao, Charlly;
- McDonald-McGinn, Donna M.;
- Zackai, Elaine H.;
- Bailey, Alice;
- Schultz, Robert T.;
- Morrow, Bernice E.;
- Emanuel, Beverly S.;
- Hakonarson, Hakon
Publication type:
Article
Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation.
Published in:
Cleft Palate Craniofacial Journal, 2020, v. 57, n. 7, p. 808, doi. 10.1177/1055665619900871
By:
- Lee, Alfred;
- Chang, Brian L.;
- Solot, Cynthia;
- Crowley, Terrence B.;
- Vemulapalli, Vamsee;
- McDonald-McGinn, Donna M.;
- Maguire, Meg Ann;
- Mason, Thornton B. A.;
- Elden, Lisa;
- Cielo, Christopher M.;
- Jackson, Oksana A.
Publication type:
Article
Crouzon with Acanthosis Nigricans and Odontogenic Tumors.
Published in:
Cleft Palate Craniofacial Journal, 2018, v. 55, n. 2, p. 296, doi. 10.1177/1055665617723918
By:
- Xu, Wen;
- McDonald-McGinn, Donna M.;
- Melchiorre, Alexandra J.;
- Zackai, Elaine H.;
- Bartlett, Scott P.;
- Taylor, Jesse A.
Publication type:
Article
Perioperative Risk Factors in Patients With 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction.
Published in:
Cleft Palate Craniofacial Journal, 2015, v. 52, n. 2, p. 183, doi. 10.1597/13-206
By:
- Stransky, Carrie;
- Basta, Marten;
- McDonald-McGinn, Donna M.;
- Solot, Cynthia B.;
- Drummond, Denis;
- Zackai, Elaine;
- LaRossa, Don;
- Kirschner, Richard;
- Jackson, Oksana
Publication type:
Article
Cleft Lip and Palate Repair in Hay-Wells/Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.
Published in:
Cleft Palate Craniofacial Journal, 2007, v. 44, n. 3, p. 335, doi. 10.1597/06-065
By:
- Cabiling, David S.;
- Yan, Albert C.;
- Mcdonald-Mcginn, Donna M.;
- Zackai, Elaine H.;
- Kirschner, Richard E.
Publication type:
Article
Asymmetric Crying Facies in the 22q11.2 Deletion Syndrome: Implications for Future Screening.
Published in:
Clinical Pediatrics, 2013, v. 52, n. 12, p. 1144, doi. 10.1177/0009922813506606
By:
- Pasick, Christina;
- McDonald-McGinn, Donna M.;
- Simbolon, Christine;
- Low, David;
- Zackai, Elaine;
- Jackson, Oksana
Publication type:
Article
Chromosome 22q11 copy number variants and single ventricle CHD.
Published in:
Cardiology in the Young, 2023, v. 33, n. 1, p. 101, doi. 10.1017/S1047951122000385
By:
- Geoffrion, Tracy R.;
- Goldberg, David;
- Crowley, T. Blaine;
- Chen, Jonathan M.;
- McDonald-McGinn, Donna M.;
- Gaynor, J. William
Publication type:
Article
A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.
Published in:
2018
By:
- Mavroudis, Constantine D.;
- Seung Kim, Daniel;
- Burnham, Nancy;
- Morss, Alexandra H.;
- Kim, Jerry H.;
- Burt, Amber A.;
- Crosslin, David R.;
- McDonald-McGinn, Donna M.;
- Zackai, Elaine H.;
- Cohen, Meryl S.;
- Nicolson, Susan C.;
- Spray, Thomas L.;
- Stanaway, Ian B.;
- Nickerson, Deborah A.;
- Russell, Mark W.;
- Hakonarson, Hakon;
- Jarvik, Gail P.;
- Gaynor, J. William
Publication type:
journal article
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00363-y
By:
- Zhao, Yingjie;
- Wang, Yujue;
- Shi, Lijie;
- McDonald-McGinn, Donna M.;
- Crowley, T. Blaine;
- McGinn, Daniel E.;
- Tran, Oanh T.;
- Miller, Daniella;
- Lin, Jhih-Rong;
- Zackai, Elaine;
- Johnston, H. Richard;
- Chow, Eva W. C.;
- Vorstman, Jacob A. S.;
- Vingerhoets, Claudia;
- van Amelsvoort, Therese;
- Gothelf, Doron;
- Swillen, Ann;
- Breckpot, Jeroen;
- Vermeesch, Joris R.;
- Eliez, Stephan
Publication type:
Article
22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4823, doi. 10.3390/jcm10214823
By:
- de Reuver, Steven;
- Homans, Jelle F.;
- Schlösser, Tom P. C.;
- Houben, Michiel L.;
- Deeney, Vincent F. X.;
- Crowley, Terrence B.;
- Stücker, Ralf;
- Pasha, Saba;
- Kruyt, Moyo C.;
- McDonald-McGinn, Donna M.;
- Castelein, René M.
Publication type:
Article
Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome.
Published in:
Journal of Autism & Developmental Disorders, 2005, v. 35, n. 4, p. 461, doi. 10.1007/s10803-005-5036-9
By:
- Fine, Sarah E.;
- Weissman, Alison;
- Gerdes, Marsha;
- Pinto-Martin, Jennifer;
- Zackai, Elaine H.;
- McDonald-McGinn, Donna M.;
- Emanuel, Beverly S.
Publication type:
Article
Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome.
Published in:
Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09372-3
By:
- Moore, Tyler M.;
- Salzer, Deby;
- Bearden, Carrie E.;
- Calkins, Monica E.;
- Kates, Wendy R.;
- Kushan, Leila;
- Gallagher, Robert Sean;
- Frumer, Dafna Sofrin;
- Weinberger, Ronnie;
- McDonald-McGinn, Donna M.;
- Gur, Raquel E.;
- Gothelf, Doron
Publication type:
Article
Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.
Published in:
Pediatric Cardiology, 2021, v. 42, n. 7, p. 1594, doi. 10.1007/s00246-021-02645-7
By:
- de Rinaldis, Chiara Pandolfi;
- Butensky, Adam;
- Patel, Shrey;
- Edman, Sharon;
- Wasserman, Melissa;
- McGinn, Daniel E.;
- Bailey, Alice;
- Zackai, Elaine H.;
- Crowley, T. Blaine;
- McDonald-McGinn, Donna M.;
- Min, Jungwon;
- Goldmuntz, Elizabeth
Publication type:
Article
Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.
Published in:
Birth Defects Research, 2019, v. 111, n. 13, p. 888, doi. 10.1002/bdr2.1534
By:
- Xie, Hongbo M.;
- Taylor, Deanne M.;
- Zhang, Zhe;
- McDonald‐McGinn, Donna M.;
- Zackai, Elaine H.;
- Stambolian, Dwight;
- Hakonarson, Hakon;
- Morrow, Bernice E.;
- Emanuel, Beverly S.;
- Goldmuntz, Elizabeth
Publication type:
Article

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