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2,440 results on '"Zackai, Elaine"'

151. Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome

Author

Angelozzi, Marco, primary, Karvande, Anirudha, additional, Molin, Arnaud N, additional, Ritter, Alyssa L, additional, Leonard, Jacqueline M M, additional, Savatt, Juliann M, additional, Douglass, Kristen, additional, Myers, Scott M, additional, Grippa, Mina, additional, Tolchin, Dara, additional, Zackai, Elaine, additional, Donoghue, Sarah, additional, Hurst, Anna C E, additional, Descartes, Maria, additional, Smith, Kirstin, additional, Velasco, Danita, additional, Schmanski, Andrew, additional, Crunk, Amy, additional, Tokita, Mari J, additional, de Lange, Iris M, additional, van Gassen, Koen, additional, Robinson, Hannah, additional, Guegan, Katie, additional, Suri, Mohnish, additional, Patel, Chirag, additional, Bournez, Marie, additional, Faivre, Laurence, additional, Tran-Mau-Them, Frédéric, additional, Baker, Janice, additional, Fabie, Noelle, additional, Weaver, K, additional, Shillington, Amelle, additional, Hopkin, Robert J, additional, Barge-Schaapveld, Daniela Q C.M, additional, Ruivenkamp, Claudia AL, additional, Bökenkamp, Regina, additional, Vergano, Samantha, additional, Seco Moro, Maria Noelia, additional, Díaz de Bustamante, Aranzazu, additional, Misra, Vinod K, additional, Kennelly, Kelly, additional, Rogers, Caleb, additional, Friedman, Jennifer, additional, Wigby, Kristen M, additional, Lenberg, Jerica, additional, Graziano, Claudio, additional, Ahrens-Nicklas, Rebecca C, additional, and Lefebvre, Veronique, additional

Published
2022
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152. Molecular Diagnostic Outcomes from 700 Cases

Author

Murrell, Jill R., primary, Nesbitt, Addie May I., additional, Baker, Samuel W., additional, Pechter, Kieran B., additional, Balciuniene, Jorune, additional, Zhao, Xiaonan, additional, Denenberg, Elizabeth H., additional, DeChene, Elizabeth T., additional, Wu, Chao, additional, Jayaraman, Pushkala, additional, Cao, Kajia, additional, Gonzalez, Michael, additional, Devoto, Marcella, additional, Testori, Alessandro, additional, Monos, John D., additional, Dulik, Matthew C., additional, Conlin, Laura K., additional, Luo, Minjie, additional, McDonald Gibson, Kristin, additional, Guan, Qiaoning, additional, Sarmady, Mahdi, additional, Bhoj, Elizabeth, additional, Helbig, Ingo, additional, Zackai, Elaine H., additional, Bedoukian, Emma C., additional, Wilkens, Alisha, additional, Tarpinian, Jennifer, additional, Izumi, Kosuke, additional, Skraban, Cara M., additional, Deardorff, Matthew A., additional, Medne, Livija, additional, Krantz, Ian D., additional, Krock, Bryan L., additional, and Santani, Avni B., additional

Published
2022
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153. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Author

Gibson, Kristin McDonald, Nesbitt, Addie, Cao, Kajia, Yu, Zhenming, Denenberg, Elizabeth, DeChene, Elizabeth, Guan, Qiaoning, Bhoj, Elizabeth, Zhou, Xiangdong, Zhang, Bo, Wu, Chao, Dubbs, Holly, Wilkens, Alisha, Medne, Livija, Bedoukian, Emma, White, Peter S, Pennington, Jeffrey, Luo, Minjie, Conlin, Laura, Monos, Dimitri, Sarmady, Mahdi, Marsh, Eric, Zackai, Elaine, Spinner, Nancy, Krantz, Ian, Deardorff, Matt, and Santani, Avni

Published
2018
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156. A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

Author

Snijders Blok, Lot, primary, Verseput, Jolijn, additional, Rots, Dmitrijs, additional, Venselaar, Hanka, additional, Innes, A. Micheil, additional, Stumpel, Connie, additional, Ounap, Katrin, additional, Reinson, Karit, additional, Seaby, Eleanor G., additional, McKee, Shane, additional, Burton, Barbara, additional, Kim, Katherine, additional, van Hagen, Johanna M., additional, Waisfisz, Quinten, additional, Joset, Pascal, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Li, Dong, additional, Zackai, Elaine, additional, Sheppard, Sarah, additional, Keena, Beth, additional, Hakonarson, Hakon, additional, Roos, Andreas, additional, Kohlschmidt, Nicolai, additional, Cereda, Anna, additional, Iascone, Maria, additional, Rebessi, Erika, additional, Kernohan, Kristin D., additional, Campeau, Philippe M., additional, Millan, Francisca, additional, Taylor, Jesse A., additional, Lochmuller, Hanns, additional, Higgs, Martin R., additional, Goula, Amalia, additional, Bernhard, Birgitta, additional, Fisher, Simon E., additional, Brunner, Han G., additional, and Kleefstra, Tjitske, additional

Published
2021
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157. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Author

Fasham, James, primary, Lin, Siying, additional, Ghosh, Promita, additional, Radio, Francesca Clementina, additional, Farrow, Emily G., additional, Thiffault, Isabelle, additional, Kussman, Jennifer, additional, Zhou, Dihong, additional, Hemming, Rick, additional, Zahka, Kenneth, additional, Chioza, Barry A., additional, Rawlins, Lettie E., additional, Wenger, Olivia K., additional, Gunning, Adam C., additional, Pizzi, Simone, additional, Onesimo, Roberta, additional, Zampino, Giuseppe, additional, Barker, Emily, additional, Osawa, Natasha, additional, Rodriguez, Megan Christine, additional, Neuhann, Teresa M., additional, Zackai, Elaine H., additional, Keena, Beth, additional, Capasso, Jenina, additional, Levin, Alex V., additional, Bhoj, Elizabeth, additional, Li, Dong, additional, Hakonarson, Hakon, additional, Wentzensen, Ingrid M., additional, Jackson, Adam, additional, Chandler, Kate E., additional, Coban-Akdemir, Zeynep H., additional, Posey, Jennifer E., additional, Banka, Siddharth, additional, Lupski, James R., additional, Sheppard, Sarah E., additional, Tartaglia, Marco, additional, Triggs-Raine, Barbara, additional, Crosby, Andrew H., additional, and Baple, Emma L., additional

Published
2021
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158. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, el Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Lodder, Elisabeth M., Clur, Sally-Ann B., Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R., Cardiology, ACS - Heart failure & arrhythmias, Medical Biology, Amsterdam Cardiovascular Sciences, Paediatric Cardiology, APH - Methodology, APH - Quality of Care, APH - Aging & Later Life, APH - Personalized Medicine, Human Genetics, Amsterdam Reproduction & Development (AR&D), and ACS - Pulmonary hypertension & thrombosis

Abstract

Due to a processing error the author’s Doris Škorić-Milosavljević, Najim Lahrouchi, Alex V. Postma, Connie R. Bezzina were assigned to affiliation 38. However, affiliation 38 does not exist. In addition, the affiliations of Najim Lahrouchi, Elisabeth M. Lodder, and Connie R. Bezzina should be number 1 instead of number 2. The correct affiliation is Department of Clinical and Experimental Cardiology, Amsterdam University Medical Center, Amsterdam, The Netherlands. The original article has been corrected.

Published
2021

159. Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

Author

Tooley, Madeleine, Lynch, Danielle, Bernier, Francois, Parboosingh, Jillian, Bhoj, Elizabeth, Zackai, Elaine, Calder, Alistair, Itasaki, Nobue, Wakeling, Emma, Scott, Richard, Lees, Melissa, Clayton-Smith, Jill, Blyth, Moira, Morton, Jenny, Shears, Debbie, Kini, Usha, Homfray, Tessa, Clarke, Angus, Barnicoat, Angela, Wallis, Colin, Hewitson, Rebecca, Offiah, Amaka, Saunders, Michael, Langton-Hewer, Simon, Hilliard, Tom, Davis, Peter, and Smithson, Sarah

Published
2016
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160. Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.

Author

Ron, Hayley A., Crowley, Terrence Blaine, Liu, Yichuan, Unolt, Marta, Schindewolf, Erica, Moldenhauer, Julie, Rychik, Jack, Goldmuntz, Elizabeth, Emanuel, Beverly S., Ryba, Douglas, Gaynor, James William, Zackai, Elaine H., Hakonarson, Hakon, and McDonald-McGinn, Donna M.

Subjects
DIGEORGE syndrome, HOSPITAL admission & discharge, CHILDREN'S hospitals, CONGENITAL heart disease, LENGTH of stay in hospitals, PULSE oximeters, THORACIC aorta
Abstract

Interruption of the aortic arch (IAA) is a rare but life-threatening congenital heart defect if not corrected in the neonatal period. IAA type B is highly correlated with 22q11.2 deletion syndrome (22q11.2DS); approximately 50% of patients with IAA type B also have 22q11.2DS (Peyvandi et al.; Goldmuntz et al.). Early identification and repair of IAA can prevent severe morbidity and death. However, IAA is challenging to identify prenatally, or even in the neonatal period. In this study, we examined infants with IAA, diagnosed during pregnancy and prior to discharge (PPTD) from the birth hospital vs. those diagnosed following discharge (FD) from the newborn nursery. Our goals were to determine: (1) if early diagnosis improved outcomes; and (2) if patients with IAA and without 22q11.2DS had similar outcomes. In total, 135 patients with a diagnosis of 22q11.2DS and IAA were ascertained through the 22q and You Center at the Children's Hospital of Philadelphia (CHOP). The examined outcomes included: timing of diagnosis; age at diagnosis (days); hospital length of stay (LOS); duration of intensive care unit (ICU) stay; mechanical ventilation (days); duration of inotrope administration (days); year of surgical intervention; birth hospital trauma level; and overall morbidity. These outcomes were then compared with 40 CHOP patients with IAA but without 22q11.2DS. The results revealed that the PPTD neonates had fewer days of intubation, inotrope administration, and hospital LOS when compared to the FD group. The outcomes between deleted and non-deleted individuals with IAA differed significantly, in terms of the LOS (40 vs. 39 days) and time in ICU (28 vs. 24 days), respectively. These results support the early detection of 22q11.2DS via prenatal screening/diagnostics/newborn screening, as IAA can evade routine prenatal ultrasound and postnatal pulse oximetry. However, as previously reported in patients with 22q11.2DS and congenital heart disease (CHD), patients with 22q11.2DS tend to fare poorer compared to non-deleted neonates with IAA. [ABSTRACT FROM AUTHOR]

Published
2023
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161. Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.

Author

Campbell, Ian M., Crowley, T. Blaine, Jobaliya, Chintan, Bailey, Alice, McGinn, Daniel E., Gaiser, Kimberly, Bassett, Anne, Gur, Raquel E., Morrow, Bernice, Emanuel, Beverly S., Franco, Aime T., French, Deborah, Zackai, Elaine H., McDonald‐McGinn, Donna M., and Lambert, Michele P.

Subjects
DIGEORGE syndrome, MEAN platelet volume, BLOOD platelets, IDIOPATHIC thrombocytopenic purpura, CONGENITAL heart disease, PLATELET count, THYROID hormone receptors, THROMBOPOIETIN receptors
Abstract

Prior studies have demonstrated that patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) have lower platelet counts (PC) compared to non‐deleted populations. They also have an increased mean platelet volume. The mechanism for this has been postulated to be haploinsufficiency of the GPIBB gene. We examined platelet parameters, deletion size and factors known to influence counts, including status of thyroid hormone and congenital heart disease (CHD), in a population of 825 patients with 22q11.2DS. We also measured surface expression of GPIB‐IX complex by flow cytometry. The major determinant of PC was deletion status of GP1BB, regardless of surface expression or other factors. Patients with nested distal chromosome 22q11.2 deletions (those with GP1BB present) had higher PCs than those with proximal deletions where GP1BB is deleted. Patients with 22q11.2DS also demonstrated an accelerated PC decrease with age, occurring in childhood. These data demonstrate that genes within the proximal deletion segment drive PC differences in 22q11.2DS and suggest that PC reference ranges may need to be adjusted for age and deletion size in 22q11.2DS populations. Bleeding did not correlate with either platelet count or GPIb expression. Further studies into drivers of expression of GPIb and associations with severe thrombocytopenia and immune thrombocytopenia are needed to inform clinical care. [ABSTRACT FROM AUTHOR]

Published
2023
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162. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Author

Angelozzi, Marco, Karvande, Anirudha, Molin, Arnaud N., Ritter, Alyssa L., Leonard, Jacqueline M. M., Savatt, Juliann M., Douglass, Kristen, Myers, Scott M., Grippa, Mina, Tolchin, Dara, Zackai, Elaine, Donoghue, Sarah, Hurst, Anna C. E., Descartes, Maria, Smith, Kirstin, Velasco, Danita, Schmanski, Andrew, Crunk, Amy, Tokita, Mari J., and de Lange, Iris M.

Abstract

Background A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome. Methods We newly identified 17 patients with SOX4 variants, predicted variant pathogenicity using in silico tests and in vitro functional assays and analysed the patients' phenotypes. Results All variants were novel, distinct and heterozygous. Seven HMG-domain missense and five stop-gain variants were classified as pathogenic or likely pathogenic variant (L/PV) as they precluded SOX4 transcriptional activity in vitro. Five HMG-domain and non-HMG-domain missense variants were classified as of uncertain significance (VUS) due to negative results from functional tests. When known, inheritance was de novo or from a mosaic unaffected or non-mosaic affected parent for patients with L/PV, and from a non-mosaic asymptomatic or affected parent for patients with VUS. All patients had neurodevelopmental, neurological and dysmorphic features, and at least one cardiovascular, ophthalmological, musculoskeletal or other somatic anomaly. Patients with L/PV were overall more affected than patients with VUS. They resembled patients with other neurodevelopmental diseases, including the SOX11-related and Coffin-Siris (CSS) syndromes, but lacked the most specific features of CSS. Conclusion These findings consolidate evidence of a fairly non-specific neurodevelopmental syndrome due to SOX4 haploinsufficiency in neurogenesis and multiple other developmental processes. [ABSTRACT FROM AUTHOR]

Published
2022
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165. Contributors

Author

Abman, Steven H., Ali, Noorjahan, Allegaert, Karel, Anderson, Jamie E., Ansah, Deidra A., Arya, Bhawna, Askenazi, David, Aucott, Susan W., Back, Stephen A., Baer, Gerri R., Baldwin, H. Scott, Ballas, Jerasimos, Batra, Maneesh, Bayart, Cheryl, Bellus, Gary A., Benjamin, John T., Berry, Gerard T., Billimoria, Zeenia C., Binenbaum, Gil, Blessing, Matthew S., Boos, Markus D., Bosse, Brad, Bouchard, Maryse L., Brandling-Bennett, Heather A., Brown, Colleen, Brown, Erin G., Campbell, Katherine H., Carlberg, Katie, Carter, Brian S., Chabra, Shilpi, Chang, Irene J., Cheng, Edith Y., Chiang, Kai-wen, Christensen, Robert D., Chun, Terrence, Clyman, Ronald I., Cortezzo, Donna, Maria E., Cotten, C.M., Courtney, Sherry E., Davis, Jonathan M., de Alba Campomanes, Alejandra G., Dean, Benjamin, Dees, Ellen, De, Mauro, Sara B., Denne, Scott C., Deschmann, Emöke, Di Blasi, Carolina Cecilia, Di, Vall, Sara A., Doherty, Dan, Durand, David J., Dyess, Nicolle Fernández, Eichenwald, Eric C., Eitel, Kelsey B., Engen, Rachel M., Evans, Kelly N., Farmer, Diana L., Fay, Emily, Fechner, Patricia Y., Fleishman, Rachel, Fleiss, Bobbi, Flynn, Joseph, Jr., Flynn-O’Brien, Katherine T., Kyle Fulton, G., Gallagher, Renata C., Gauda, Estelle B., Christopher Golden, W., Gontasz, Michelle M., Estévez, Natasha González, Gospe, Sidney M., Jr., Gressens, Pierre, Gupta, Deepti, Hingorani, Sangeeta, Hinson, Ashley P., Hintz, Susan R., Alan Hodson, W., Hoppe, Kara K., Huang, Alyssa, Huang, Benjamin, Huen, Kathy, Huff, Katie A., Ionita, Cristian, Craig Jackson, J., Jackson, Jordan E., Jaksic, Tom, Javid, Patrick J., Johnson, Julia, Josephson, Cassandra D., Jungheim, Emily S., Juul, Sandra E., Kabbany, Mohammad Nasser, Karpen, Heidi, Keefe, Gregory, Keene, Jennifer C., Keiser, Amaris M., Keller, Roberta L., Kelly, Thomas F., Khorsand, Kate, Kim, Grace, Kinsella, John P., Komorowski, Allison S., Koves, Ildiko H., Lagatta, Joanne M., Lakshminrusimha, Satyan, Lam, Christina, Lantos, John D., Law, Janessa B., Lee, Su Yeon, Levy, Ofer, Lewis, David B., Lin, Philana Ling, Lorch, Scott A., Lucas, Tiffany L., Maheshwari, Akhil, Maltepe, Emin, Mandell, Erica, Manimtim, Winston M., Martin, Richard J., Mayock, Dennis E., Mc, Aleer, Irene, McQuillen, Patrick, Melvin, Ann J., Merguerian, Paul A., Merjaneh, Lina, Lawrence Merritt, J., Mezger, Valerie, Michaels, Marian G., Mietzsch, Ulrike, Miller, Steven P., Moore, Thomas R., Murray, Karen F., Nandi-Munshi, Debika, Natarajan, Niranjana, Ness, Kathryn D., Neu, Josef, Noori, Shahab, O’Shea, Thomas Michael, Jr., Oatts, Julius T., Paneth, Nigel, Parker, Thomas A., Patel, Ravi Mangal, Patel, Simran, Penn, Anna A., Pettker, Christian M., Peyvandi, Shabnam, Pihoker, Catherine, Plosa, Erin, Poindexter, Brenda, Posencheg, Michael A., Puia-Dumitrescu, Mihai, Cardona, Vilmaris Quiñones, Rice-Townsend, Samuel E., Riddle, Art, Robbins, Elizabeth, Rollins, Mark D., Rosen, Mark A., Rowe, Courtney K., Sahai, Inderneel, Saitta, Sulagna C., Salehi, Parisa, Sanchez, Pablo J., Sawyer, Taylor, Saxonhouse, Matthew A., Schroeder, Katherine M., Selewski, David T., Niroshi Senaratne, T., Seri, Istvan, Sharpe, Emily E., Sheppard, Sarah E., Shnorhavorian, Margarett, Sidbury, Robert, Simmons, La, Vone, Simmons, Rebecca A., Singh, Rachana, Sola-Visner, Martha C., Srinivasan, Lakshmi, Steflik, Heidi J., Steinhorn, Robin H., Stokes, Caleb, Stolp, Helen, Sucre, Jennifer, Sun, Angela, Taha, Dalal K., Tenney, Jessica, Thomas, Janet A., Tiller, George E., Torres, Benjamin A., Truog, William E., Upadhyay, Kirtikumar, Valentine, Gregory C., van den Anker, John N., Vohr, Betty, Wallen, Linda D., Wang, Peter (Zhan Tao), Warady, Bradley A., Ward, Robert M., Watchko, Jon F., Wehbi, Elias, Weitkamp, Joern-Hendrik, Werny, David, White, Klane K., Taylor Wild, K., Wiley, Susan, Willig, Laurel, Woodward, George A., Wright, Clyde J., Yonekawa, Karyn, Yu, Elizabeth, and Zackai, Elaine H.

Published
2024
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166. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Author

Zollino, Marcella, Marangi, Giuseppe, Ponzi, Emanuela, Orteschi, Daniela, Ricciardi, Stefania, Lattante, Serena, Murdolo, Marina, Battaglia, Domenica, Contaldo, Ilaria, Mercuri, Eugenio, Stefanini, Maria Chiara, Caumes, Roseline, Edery, Patrick, Rossi, Massimiliano, Piccione, Maria, Corsello, Giovanni, Della Monica, Matteo, Scarano, Francesca, Priolo, Manuela, Gentile, Mattia, Zampino, Giuseppe, Vijzelaar, Raymon, Abdulrahman, Omar, Rauch, Anita, Oneda, Beatrice, Deardorff, Matthew A, Saitta, Sulagna C, Falk, Marni J, Dubbs, Holly, and Zackai, Elaine

Published
2015
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169. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Author

Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, and Messiaen, Ludwine

Published
2015
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170. Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

Author

Cornblath, Eli J., primary, Mahadevan, Arun, additional, He, Xiaosong, additional, Ruparel, Kosha, additional, Lydon-Staley, David M., additional, Moore, Tyler M., additional, Gur, Ruben C., additional, Zackai, Elaine H., additional, Emanuel, Beverly, additional, McDonald-McGinn, Donna M., additional, Wolf, Daniel H., additional, Satterthwaite, Theodore D., additional, Roalf, David R., additional, Gur, Raquel E., additional, and Bassett, Dani S., additional

Published
2021
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171. A novelMBTPS2variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

Author

Strong, Alanna, primary, March, Michael E., additional, Cardinale, Christopher J., additional, Kim, Sophia E., additional, Merves, Jamie, additional, Whitworth, Hilary, additional, Raffini, Leslie, additional, Larosa, Christopher, additional, Copelovitch, Lawrence, additional, Hou, Cuiping, additional, Slater, Diana, additional, Vaccaro, Courtney, additional, Watson, Deborah, additional, Zackai, Elaine H., additional, Billheimer, Jeffrey, additional, and Hakonarson, Hakon, additional

Published
2021
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172. Response to Hamosh et al.

Author

Biesecker, Leslie G., primary, Adam, Margaret P., additional, Alkuraya, Fowzan S., additional, Amemiya, Anne R., additional, Bamshad, Michael J., additional, Beck, Anita E., additional, Bennett, James T., additional, Bird, Lynne M., additional, Carey, John C., additional, Chung, Brian, additional, Clark, Robin D., additional, Cox, Timothy C., additional, Curry, Cynthia, additional, Dinulos, Mary Beth Palko, additional, Dobyns, William B., additional, Giampietro, Philip F., additional, Girisha, Katta M., additional, Glass, Ian A., additional, Graham, John M., additional, Gripp, Karen W., additional, Haldeman-Englert, Chad R., additional, Hall, Bryan D., additional, Innes, A. Micheil, additional, Kalish, Jennifer M., additional, Keppler-Noreuil, Kim M., additional, Kosaki, Kenjiro, additional, Kozel, Beth A., additional, Mirzaa, Ghayda M., additional, Mulvihill, John J., additional, Nowaczyk, Malgorzata J.M., additional, Pagon, Roberta A., additional, Retterer, Kyle, additional, Rope, Alan F., additional, Sanchez-Lara, Pedro A., additional, Seaver, Laurie H., additional, Shieh, Joseph T., additional, Slavotinek, Anne M., additional, Sobering, Andrew K., additional, Stevens, Cathy A., additional, Stevenson, David A., additional, Tan, Tiong Yang, additional, Tan, Wen-Hann, additional, Tsai, Anne C., additional, Weaver, David D., additional, Williams, Marc S., additional, Zackai, Elaine, additional, and Zarate, Yuri A., additional

Published
2021
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173. Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes

Author

Strong, Alanna, primary, Skraban, Cara, additional, Meyers, Kevin, additional, Amaral, Sandra, additional, Furth, Susan, additional, Drant, Stacey, additional, Hsiao, Wendy, additional, Galea, Lauren, additional, Gold, Jessica, additional, Gold, Nina B., additional, Leonard, Jacqueline, additional, Lopez, Sonya, additional, Zackai, Elaine H., additional, and Pyeritz, Reed E., additional

Published
2021
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183. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Author

Kruszka, Paul, Li, Dong, Harr, Margaret H, Wilson, Nathan R, Swarr, Daniel, McCormick, Elizabeth M, Chiavacci, Rosetta M, Li, Mindy, Martinez, Ariel F, Hart, Rachel A, McDonald-McGinn, Donna M, Deardorff, Matthew A, Falk, Marni J, Allanson, Judith E, Hudson, Cindy, Johnson, John P, Saadi, Irfan, Hakonarson, Hakon, Muenke, Maximilian, and Zackai, Elaine H

Published
2015
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185. Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence

Author

Wenger, Tara L., primary, Perkins, Jonathan, additional, Parish‐Morris, Julia, additional, Hing, Anne V., additional, Chen, Maida L., additional, Cielo, Christopher M., additional, Li, Dong, additional, Bhoj, Elizabeth J., additional, Hakonarson, Hakon, additional, Zackai, Elaine, additional, McDonald‐McGinn, Donna M., additional, Taylor, Jesse A., additional, Jackson, Oksana, additional, Sie, Kathleen, additional, Bly, Randall, additional, Dahl, John, additional, and Evans, Kelly N., additional

Published
2021
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186. Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

Author

Gur, Ruben C., primary, Moore, Tyler M., additional, Weinberger, Ronnie, additional, Mekori‐Domachevsky, Ehud, additional, Gross, Raz, additional, Emanuel, Beverly S., additional, Zackai, Elaine H., additional, Moss, Edward, additional, Gallagher, Robert Sean, additional, McGinn, Daniel E., additional, Crowley, Terrence Blaine, additional, McDonald‐McGinn, Donna, additional, Gothelf, Doron, additional, and Gur, Raquel E., additional

Published
2021
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187. Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

Author

Polla, Daniel L., primary, Edmondson, Andrew C., additional, Duvet, Sandrine, additional, March, Michael E., additional, Sousa, Ana Berta, additional, Lehman, Anna, additional, Niyazov, Dmitriy, additional, van Dijk, Fleur, additional, Demirdas, Serwet, additional, van Slegtenhorst, Marjon A., additional, Kievit, Anneke J.A., additional, Schulz, Celine, additional, Armstrong, Linlea, additional, Bi, Xin, additional, Rader, Daniel J., additional, Izumi, Kosuke, additional, Zackai, Elaine H., additional, de Franco, Elisa, additional, Jorge, Paula, additional, Huffels, Sophie C., additional, Hommersom, Marina, additional, Ellard, Sian, additional, Lefeber, Dirk J., additional, Santani, Avni, additional, Hand, Nicholas J., additional, van Bokhoven, Hans, additional, He, Miao, additional, and de Brouwer, Arjan P.M., additional

Published
2021
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188. Nonlethal presentations of CYP26B1 ‐related skeletal anomalies and multiple synostoses syndrome

Author

Grand, Katheryn, primary, Skraban, Cara M., additional, Cohen, Jennifer L., additional, Dowsett, Leah, additional, Mazzola, Sarah, additional, Tarpinian, Jennifer, additional, Bedoukian, Emma, additional, Nesbitt, Addie, additional, Denenberg, Beth, additional, Lulis, Lauren, additional, Santani, Avni, additional, Zackai, Elaine H., additional, and Deardorff, Matthew A., additional

Published
2021
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189. X-Autosome translocations

Author

Strong, Alanna, primary, Callahan, Katharine Press, additional, Guo, Rose, additional, Ron, Hayley, additional, and Zackai, Elaine H., additional

Published
2021
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191. ANKRD11 variants: KBG syndrome and beyond

Author

Parenti, Ilaria, primary, Mallozzi, Mark B., additional, Hüning, Irina, additional, Gervasini, Cristina, additional, Kuechler, Alma, additional, Agolini, Emanuele, additional, Albrecht, Beate, additional, Baquero‐Montoya, Carolina, additional, Bohring, Axel, additional, Bramswig, Nuria C., additional, Busche, Andreas, additional, Dalski, Andreas, additional, Guo, Yiran, additional, Hanker, Britta, additional, Hellenbroich, Yorck, additional, Horn, Denise, additional, Innes, A. Micheil, additional, Leoni, Chiara, additional, Li, Yun R., additional, Lynch, Sally Ann, additional, Mariani, Milena, additional, Medne, Livija, additional, Mikat, Barbara, additional, Milani, Donatella, additional, Onesimo, Roberta, additional, Ortiz‐Gonzalez, Xilma, additional, Prott, Eva Christina, additional, Reutter, Heiko, additional, Rossier, Eva, additional, Selicorni, Angelo, additional, Wieacker, Peter, additional, Wilkens, Alisha, additional, Wieczorek, Dagmar, additional, Zackai, Elaine H., additional, Zampino, Giuseppe, additional, Zirn, Birgit, additional, Hakonarson, Hakon, additional, Deardorff, Matthew A., additional, Gillessen‐Kaesbach, Gabriele, additional, and Kaiser, Frank J., additional

Published
2021
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193. Altered Functional Brain Dynamics in Chromosome 22q11.2 Deletion Syndrome During Facial Affect Processing

Author

Cornblath, Eli, primary, Mahadevan, Arun S., additional, He, Xiaosong, additional, Ruparel, Kosha, additional, Lydon-Staley, David M., additional, Moore, Tyler M., additional, Gur, Ruben C., additional, Zackai, Elaine H., additional, Emanuel, Beverly, additional, McDonald-McGinn, Donna M., additional, Wolf, Daniel H., additional, Satterthwaite, Theodore D., additional, Roalf, David R., additional, Gur, Raquel E., additional, and Bassett, Danielle S., additional

Published
2021
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195. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs

Author

Sønderby, Ida E, Ching, Christopher R K, Ayesa-Arriola, Rosa, Thompson, Paul M, Bearden, Carrie E, Andreassen, Ole A, Group, ENIGMA-CNV Working, 2 Deletion Syndrome Working Group, ENIGMA 22q11., Bernard, Manon, Blackburn, Nicholas B, Bøen, Rune, de Geus, Eco, de Zwarte, Sonja M C, Bakker, Geor, Forti, Marta Di, Frei, Oleksandr, Fukunaga, Masaki, Hehir-Kwa, Jayne Y, Hillegers, Manon H J, Hoffmann, Per, Homuth, Georg, Jahanshad, Neda, Koops, Sanne, Kumar, Kuldeep, Bassett, Anne S, Kikuchi, Masataka, Le Hellard, Stephanie, Leu, Costin, Murray, Robin M, Naerland, Terje, Nyberg, Lars, Ophoff, Roel A, Pike, G Bruce, Sando, Sigrid B, Shin, Jean, Boomsma, Dorret I, Shumskaya, Elena, Sisodiya, Sanjay M, Steen, Vidar M, Teumer, Alexander, Uhlmann, Anne, Wright, Margaret J, Antshel, Kevin M, Campbell, Linda E, Crossley, Nicolas A, Crowley, T Blaine, Bülow, Robin, Daly, Eileen, Fiksinski, Ania M, Forsyth, Jennifer K, Fremont, Wanda, Goodrich-Hunsaker, Naomi J, Gudbrandsen, Maria, Jonas, Rachel K, Kates, Wendy R, Lin, Amy, McCabe, Kathryn L, Butcher, Nancy J, Moss, Hayley, Murphy, Declan G, Murphy, Kieran C, Owen, Michael J, Ruparel, Kosha, Simon, Tony J, van Amelsvoort, Therese, Vorstman, Jacob A S, Calhoun, Vince D, Caspers, Svenja, Chow, Eva W C, Cichon, Sven, Thomopoulos, Sophia I, Ciufolini, Simone, Craig, Michael C, Crespo-Facorro, Benedicto, Cunningham, Adam C, Dale, Anders M, Dazzan, Paola, de Zubicaray, Greig I, Djurovic, Srdjan, Doherty, Joanne L, Donohoe, Gary, van der Meer, Dennis, Draganski, Bogdan, Durdle, Courtney A, Ehrlich, Stefan, Emanuel, Beverly S, Espeseth, Thomas, Fisher, Simon E, Ge, Tian, Glahn, David C, Grabe, Hans J, Gur, Raquel E, Sun, Daqiang, Gutman, Boris A, Haavik, Jan, Håberg, Asta K, Hansen, Laura A, Hashimoto, Ryota, Hibar, Derrek P, Holmes, Avram J, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E, Jalbrzikowski, Maria, Villalon-Reina, Julio E, Knowles, Emma E M, Kushan, Leila, Linden, David E J, Liu, Jingyu, Lundervold, Astri J, Martin-Brevet, Sandra, Martínez, Kenia, Mather, Karen A, Mathias, Samuel R, McDonald-McGinn, Donna M, Agartz, Ingrid, McRae, Allan F, Medland, Sarah E, Moberget, Torgeir, Modenato, Claudia, Monereo Sánchez, Jennifer, Moreau, Clara A, Mühleisen, Thomas W, Paus, Tomas, Pausova, Zdenka, Prieto, Carlos, Amunts, Katrin, Ragothaman, Anjanibhargavi, Reinbold, Céline S, Reis Marques, Tiago, Repetto, Gabriela M, Reymond, Alexandre, Roalf, David R, Rodriguez-Herreros, Borja, Rucker, James J, Sachdev, Perminder S, Schmitt, James E, Arango, Celso, Schofield, Peter R, Silva, Ana I, Stefansson, Hreinn, Stein, Dan J, Tamnes, Christian K, Tordesillas-Gutiérrez, Diana, Ulfarsson, Magnus O, Vajdi, Ariana, van 't Ent, Dennis, van den Bree, Marianne B M, Armstrong, Nicola J, Vassos, Evangelos, Vázquez-Bourgon, Javier, Vila-Rodriguez, Fidel, Walters, G Bragi, Wen, Wei, Westlye, Lars T, Wittfeld, Katharina, Zackai, Elaine H, Stefánsson, Kári, Jacquemont, Sebastien, the ENIGMA-CNV Working Group, the ENIGMA 22q11.2 Deletion Syndrome Working Group, Stochastics, Biological Psychology, APH - Mental Health, APH - Methodology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, ENIGMA-CNV Working Group, ENIGMA 22q11.2 Deletion Syndrome Working Group, and Universidad de Cantabria

Subjects
Review Article, genetics [Mental Disorders], 0302 clinical medicine, genetics-first approach, pathology [Brain], Multicenter Studies as Topic, Copy-number variation, Review Articles, education.field_of_study, brain structural imaging, Radiological and Ultrasound Technology, genetics [Neurodevelopmental Disorders], Mental Disorders, neurodevelopmental disorders, 05 social sciences, growth & development [Brain], Brain, pathology [Mental Disorders], Cognition, Human brain, diffusion tensor imaging, Magnetic Resonance Imaging, diagnostic imaging [Neurodevelopmental Disorders], medicine.anatomical_structure, psychiatric disorders, Neurology, Anatomy, medicine.medical_specialty, Brain development, DNA Copy Number Variations, Population, Neuroimaging, Biology, 050105 experimental psychology, 03 medical and health sciences, evolution, medicine, pathology [Neurodevelopmental Disorders], Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, Deletion syndrome, copy number variant, ddc:610, genetics‐first approach, education, Psychiatry, diagnostic imaging [Brain], Neurology (clinical), Working group, 030217 neurology & neurosurgery, diagnostic imaging [Mental Disorders]
Abstract

The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number variant (ENIGMA‐CNV) and 22q11.2 Deletion Syndrome Working Groups (22q‐ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA‐CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q‐ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest‐ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi‐site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene‐dosage effects on distinct brain regions also emerged, providing further insight into genotype–phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This “genotype‐first” approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior., The enhancing neuroimaging genetics through meta‐analysis (ENIGMA) copy number variant (CNV) and 22q11.2 Working Groups focus on gaining insight into how rare genetic variants affect human brain development, cognition, and behavior. The two ENIGMA working groups have collated CNV and brain‐imaging data from numerous individuals, gathered by numerous international research centers, and analyzed this data with standardized processing and analysis pipelines. Future directions for the ENIGMA CNV and 22q11.2 working groups are to analyze CNVs with larger sample sizes and more imaging modalities to better understand how rare genetic variants affect the brain, and their clinical and behavioral consequences.

Published
2021

196. Additional file 2 of De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Author

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, Li, Dong, Donald, Kirsten A., and Superti-Furga, Andrea

Abstract

Additional file 2. List of members of the Undiagnosed Diseases Network.

Published
2021
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198. A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13; q11.21)

Author

Sheridan, Molly B., Kato, Takema, Haldeman-Englert, Chad, Jalali, Reza, Milunsky, Jeff M., Zou, Ying, Klaes, Ruediger, Gimelli, Georgio, Gimelli, Stefania, Gemmill, Robert M., Drabkin, Harry A., Hacker, April M., Brown, Julia, Tomkins, David, Shaikh, Tamim H., Kurahashi, Hiroki, Zackai, Elaine H., and Emanuel, Beverly S.

Subjects
Dysmorphology -- Research, Meiosis -- Analysis, Polymerase chain reaction -- Usage, Translocation (Genetics) -- Analysis, Biological sciences
Abstract

The study describes a syndrome characterized by extremity anomalies, mild dysmorphia, and intellectual impairment caused by 3:1 meiotic segregation of a previously unrecognized recurrent palindrome-mediated rearrangement, the t(8;22)(q11.21). PCR analysis of sperm DNA from healthy males shows that the t(8;22) arises de novo during gametogenesis in some individuals, suggesting palindrome-mediated translocation is a universal mechanism generating chromosomal rearrangements.

Published
2010

199. CHARGE-like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Author

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, Marangi, Giuseppe, Garavelli, Livia, Zollino, Marcella, and Zackai, Elaine H.

Published
2014
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