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Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63840
By:
- Nisbet, Alex F.;
- Viswanathan, Aravind;
- George, Andrew M.;
- Arias, Pedro;
- Klein, Steven D.;
- Nevado, Julian;
- Parra, Alejandro;
- Pascual, Patricia;
- Romeo, Dominic J.;
- Tenorio‐Castaño, Jair;
- Taylor, Jesse A.;
- Zackai, Elaine H.;
- Lapunzina, Pablo;
- Kalish, Jennifer M.
Publication type:
Article
Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63817
By:
- Nomakuchi, Tomoki T.;
- Teferedegn, Eden Y.;
- Li, Dong;
- Muirhead, Kayla J.;
- Dubbs, Holly;
- Leonard, Jacqueline;
- Muraresku, Colleen;
- Sergio, Emily;
- Arnold, Kaley;
- Pizzino, Amy;
- Skraban, Cara M.;
- Zackai, Elaine H.;
- Wang, Kai;
- Ganetzky, Rebecca D.;
- Vanderver, Adeline L.;
- Ahrens‐Nicklas, Rebecca C.;
- Bhoj, Elizabeth J. K.
Publication type:
Article
Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.
Published in:
2006
By:
- Jia Huang;
- Hoffman, Jodi D.;
- Yi Zhang;
- Maisenbacher, Melissa K.;
- Zackai, Elaine H.;
- Weber, Barbara L.;
- Ming, Jeffrey E.
Publication type:
Letter
De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1).
Published in:
Clinical Genetics, 1993, v. 44, n. 6, p. 335, doi. 10.1111/j.1399-0004.1993.tb03911.x
By:
- Robin, Nathaniel H.;
- Magnusson, Mark;
- McDonald-McGinn, Donna;
- Zackai, Elaine H.;
- Spinner, Nancy B.
Publication type:
Article
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
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Published in:
Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00473-3
By:
- Royer-Bertrand, Beryl;
- Jequier Gygax, Marine;
- Cisarova, Katarina;
- Rosenfeld, Jill A.;
- Bassetti, Jennifer A.;
- Moldovan, Oana;
- O'Heir, Emily;
- Burrage, Lindsay C.;
- Allen, Jake;
- Emrick, Lisa T.;
- Eastman, Emma;
- Kumps, Camille;
- Abbas, Safdar;
- Van Winckel, Geraldine;
- Chabane, Nadia;
- Zackai, Elaine H.;
- Lebon, Sebastien;
- Keena, Beth;
- Bhoj, Elizabeth J.;
- Umair, Muhammad
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
IQ and hemizygosity for the Val<sup>158</sup>Met functional polymorphism of COMT in 22q11DS.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 1112, doi. 10.1002/ajmg.b.32492
By:
- Franconi, Colleen P.;
- McDonald‐McGinn, Donna;
- Zackai, Elaine H.;
- McNamara, Meghan A.;
- Salmons, Harold;
- Moss, Edward;
- Gur, Raquel E.;
- Devoto, Marcella;
- Emanuel, Beverly S.
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
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
By:
- Nriagu, Bede N.;
- Williams, Lydia S.;
- Brewer, Niambi;
- Surrey, Lea F.;
- Srinivasan, Abhay S.;
- Li, Dong;
- Britt, Allison;
- Treat, James;
- Crowley, T. Blaine;
- O'Connor, Nora;
- Ganguly, Arupa;
- Low, David;
- Queenan, Maria;
- Drivas, Theodore G.;
- Zackai, Elaine H.;
- Adams, Denise M.;
- Hakonarson, Hakon;
- Snyder, Kristen M.;
- Sheppard, Sarah E.
Publication type:
Article
TOPORS as a novel causal gene for Joubert syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2156, doi. 10.1002/ajmg.a.63303
By:
- Strong, Alanna;
- Qu, Hui‐Qi;
- Cullina, Sinéad;
- McManus, Morgan L.;
- Zackai, Elaine H.;
- Glessner, Joseph;
- Kenny, Eimear E.;
- Hakonarson, Hakon
Publication type:
Article
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 977, doi. 10.1002/ajmg.a.63105
By:
- Matalon, Dena R.;
- Bhoj, Elizabeth J.;
- Li, Dong;
- McDougall, Carey;
- Schindewolf, Erica;
- Khalek, Nahla;
- Wilkens, Alisha;
- McManus, Morgan;
- Deardorff, Matthew A.;
- Zackai, Elaine H.
Publication type:
Article
The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3416, doi. 10.1002/ajmg.a.62920
By:
- Campbell, Ian M.;
- Crowley, T. Blaine;
- Keena, Beth;
- Donoghue, Sarah;
- McManus, Morgan L.;
- Zackai, Elaine H.
Publication type:
Article
Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 878, doi. 10.1002/ajmg.a.62597
By:
- Li, Dong;
- Downes, Helen;
- Hou, Cuiping;
- Hakonarson, Hakon;
- Zackai, Elaine H.;
- Schrier Vergano, Samantha A.;
- Bhoj, Elizabeth J.
Publication type:
Article
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 463, doi. 10.1002/ajmg.a.62537
By:
- Strong, Alanna;
- March, Michael E.;
- Cardinale, Christopher J.;
- Kim, Sophia E.;
- Merves, Jamie;
- Whitworth, Hilary;
- Raffini, Leslie;
- Larosa, Christopher;
- Copelovitch, Lawrence;
- Hou, Cuiping;
- Slater, Diana;
- Vaccaro, Courtney;
- Watson, Deborah;
- Zackai, Elaine H.;
- Billheimer, Jeffrey;
- Hakonarson, Hakon
Publication type:
Article
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3762, doi. 10.1002/ajmg.a.62449
By:
- Strong, Alanna;
- Skraban, Cara;
- Meyers, Kevin;
- Amaral, Sandra;
- Furth, Susan;
- Drant, Stacey;
- Hsiao, Wendy;
- Galea, Lauren;
- Gold, Jessica;
- Gold, Nina B.;
- Leonard, Jacqueline;
- Lopez, Sonya;
- Zackai, Elaine H.;
- Pyeritz, Reed E.
Publication type:
Article
Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2766, doi. 10.1002/ajmg.a.62387
By:
- Grand, Katheryn;
- Skraban, Cara M.;
- Cohen, Jennifer L.;
- Dowsett, Leah;
- Mazzola, Sarah;
- Tarpinian, Jennifer;
- Bedoukian, Emma;
- Nesbitt, Addie;
- Denenberg, Beth;
- Lulis, Lauren;
- Santani, Avni;
- Zackai, Elaine H.;
- Deardorff, Matthew A.
Publication type:
Article
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2409, doi. 10.1002/ajmg.a.62337
By:
- Strong, Alanna;
- Simone, Laurie;
- Krentz, Anthony;
- Vaccaro, Courtney;
- Watson, Deborah;
- Ron, Hayley;
- Kalish, Jennifer M.;
- Pedro, Helio F.;
- Zackai, Elaine H.;
- Hakonarson, Hakon
Publication type:
Article
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1486, doi. 10.1002/ajmg.a.62146
By:
- Matalon, Dena R.;
- Stevenson, David A.;
- Bhoj, Elizabeth J.;
- Santani, Avni B.;
- Keena, Beth;
- Cohen, Meryl S.;
- Lin, Angela E.;
- Sheppard, Sarah E.;
- Zackai, Elaine H.
Publication type:
Article
Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1251, doi. 10.1002/ajmg.a.62085
By:
- Wild, K. Taylor;
- Nomakuchi, Tomoki T.;
- Sheppard, Sarah E.;
- Leavens, Karla F.;
- De León, Diva D.;
- Zackai, Elaine H.
Publication type:
Article
Clinical variability of TUBB‐associated disorders: Diagnosis through reanalysis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3035, doi. 10.1002/ajmg.a.61897
By:
- Li, Dong;
- Shen, Kaitlyn M.;
- Zackai, Elaine H.;
- Bhoj, Elizabeth J.
Publication type:
Article
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2919, doi. 10.1002/ajmg.a.61878
By:
- Wild, K. Taylor;
- Gordon, Tia;
- Bhoj, Elizabeth J.;
- Du, Haowei;
- Jhangiani, Shalini N.;
- Posey, Jennifer E.;
- Lupski, James R.;
- Scott, Daryl A.;
- Zackai, Elaine H.
Publication type:
Article
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2926, doi. 10.1002/ajmg.a.61883
By:
- Cohen, Jennifer L.;
- Schrier Vergano, Samantha A.;
- Mazzola, Sarah;
- Strong, Alanna;
- Keena, Beth;
- McDougall, Carey;
- Ritter, Alyssa;
- Li, Dong;
- Bedoukian, Emma C.;
- Burke, Leah W.;
- Hoffman, Amber;
- Zurcher, Victoria;
- Krantz, Ian D.;
- Izumi, Kosuke;
- Bhoj, Elizabeth;
- Zackai, Elaine H.;
- Deardorff, Matthew A.
Publication type:
Article
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1576, doi. 10.1002/ajmg.a.61615
By:
- Wenger, Tara L.;
- Bly, Randall A.;
- Wu, Natalie;
- Albert, Catherine M.;
- Park, Julie;
- Shieh, Joseph;
- Chenbhanich, Jirat;
- Heike, Carrie L.;
- Adam, Margaret P.;
- Chang, Irene;
- Sun, Angela;
- Miller, Danny E.;
- Beck, Anita E.;
- Gupta, Deepti;
- Boos, Markus D.;
- Zackai, Elaine H.;
- Everman, David;
- Ganapathi, Shireen;
- Wilson, Meredith;
- Christodoulou, John
Publication type:
Article
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2144, doi. 10.1002/ajmg.a.61284
By:
- Rabin, Rachel;
- Hirsch, Yoel;
- Johansson, Martin M.;
- Ekstein, Joseph;
- Zeevi, David A.;
- Keena, Beth;
- Zackai, Elaine H.;
- Pappas, John
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
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1063, doi. 10.1002/ajmg.a.61121
By:
- Drivas, Theodore G.;
- Taylor, Jesse A.;
- Zackai, Elaine H.
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
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
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
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
Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1890, doi. 10.1002/ajmg.a.40380
By:
- Ritter, Alyssa L.;
- McDougall, Carey;
- Skraban, Cara;
- Medne, Livija;
- Bedoukian, Emma C.;
- Asher, Stephanie B.;
- Balciuniene, Jorune;
- Campbell, Colleen D.;
- Baker, Samuel W.;
- Denenberg, Elizabeth H.;
- Mazzola, Sarah;
- Fiordaliso, Sarah K.;
- Krantz, Ian D.;
- Kaplan, Paige;
- Ierardi‐Curto, Lynne;
- Santani, Avni B.;
- Zackai, Elaine H.;
- Izumi, Kosuke
Publication type:
Article
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1845, doi. 10.1002/ajmg.a.40368
By:
- Douglas, Ganka;
- Cho, Megan T.;
- Telegrafi, Aida;
- Winter, Susan;
- Carmichael, Jason;
- Zackai, Elaine H.;
- Deardorff, Matthew A.;
- Harr, Margaret;
- Williams, Linford;
- Psychogios, Apostolos;
- Erwin, Angelika L.;
- Grebe, Theresa;
- Retterer, Kyle;
- Juusola, Jane
Publication type:
Article
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1711, doi. 10.1002/ajmg.a.38854
By:
- Levin, Mark D.;
- Saitta, Sulagna C.;
- Gripp, Karen W.;
- Wenger, Tara L.;
- Ganesh, Jaya;
- Kalish, Jennifer M.;
- Epstein, Michael R.;
- Smith, Rosemarie;
- Czosek, Richard J.;
- Ware, Stephanie M.;
- Goldenberg, Paula;
- Myers, Angela;
- Chatfield, Kathryn C.;
- Gillespie, Matthew J.;
- Zackai, Elaine H.;
- Lin, Angela E.
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
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
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2101, doi. 10.1002/ajmg.a.38277
By:
- Luo, Minjie;
- Fan, Jinbo;
- Wenger, Tara L.;
- Harr, Margaret H.;
- Racobaldo, Melissa;
- Mulchandani, Surabhi;
- Dubbs, Holly;
- Zackai, Elaine H.;
- Spinner, Nancy B.;
- Conlin, Laura K.
Publication type:
Article
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 762, doi. 10.1002/ajmg.a.38080
By:
- Keen, Colleen;
- Samango‐Sprouse, Carole;
- Dubbs, Holly;
- 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
Utility of Genetic Evaluation in Infants with Congenital Heart Defects Admitted to the Cardiac Intensive Care Unit.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3090, doi. 10.1002/ajmg.a.37891
By:
- Ahrens‐Nicklas, Rebecca C.;
- Khan, Shama;
- Garbarini, Jennifer;
- Woyciechowski, Stacy;
- D'Alessandro, Lisa;
- Zackai, Elaine H.;
- Deardorff, Matthew A.;
- Goldmuntz, Elizabeth
Publication type:
Article
Atypical Williams Syndrome in an Infant with Complete Atrioventricular Canal Defect.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3108, doi. 10.1002/ajmg.a.37288
By:
- Ahrens‐Nicklas, Rebecca C.;
- Reichert, Sara L.;
- Zackai, Elaine H.;
- Kaplan, Paige B.
Publication type:
Article
Detection of Mutually Exclusive Mosaicism in a Girl with Genotype-Phenotype Discrepancies.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3091, doi. 10.1002/ajmg.a.37261
By:
- Luo, Minjie;
- Mulchandani, Surabhi;
- Dubbs, Holly A.;
- Swarr, Daniel;
- Pyle, Louise;
- Zackai, Elaine H.;
- Spinner, Nancy B.;
- Conlin, Laura K.
Publication type:
Article
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2548, doi. 10.1002/ajmg.a.37221
By:
- Nesbitt, Addie;
- Bhoj, Elizabeth J.;
- McDonald Gibson, Kristin;
- Yu, Zhenming;
- Denenberg, Elizabeth;
- Sarmady, Mahdi;
- Tischler, Tanya;
- Cao, Kajia;
- Dubbs, Holly;
- Zackai, Elaine H.;
- Santani, Avni
Publication type:
Article
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2497, doi. 10.1002/ajmg.a.37217
By:
- Bhoj, Elizabeth J.;
- Li, Dong;
- Harr, Margaret H.;
- Tian, Lifeng;
- Wang, Tiancheng;
- Zhao, Yan;
- Qiu, Haijun;
- Kim, Cecilia;
- Hoffman, Jodi D.;
- Hakonarson, Hakon;
- Zackai, Elaine H.
Publication type:
Article

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