Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

Authors: Ma, Mengqi, Ganapathi, Mythily, Zheng, Yiming, Tan, Kai-Li, Kanca, Oguz, Bove, Kevin E., Quintanilla, Norma, Sag, Sebnem O., Temel, Sehime G., LeDuc, Charles A., McPartland, Amanda J., Pereira, Elaine M., Shen, Yufeng, Hagen, Jacob, Thomas, Christie P., Nguyen Galván, Nhu Thao, Pan, Xueyang, Lu, Shenzhao, Rosenfeld, Jill A., Calame, Daniel G., Wangler, Michael F., Lupski, James R., Pehlivan, Davut, Hertel, Paula M., Chung, Wendy K., Bellen, Hugo J.

Source: In Genetics in Medicine July 2024 26(7)

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Authors: Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A.R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W.E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, Vasileiou, Georgia

Source: In Genetics in Medicine November 2023 25(11)

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

Authors: Platzer, Konrad, Sticht, Heinrich, Bupp, Caleb, Ganapathi, Mythily, Pereira, Elaine M., Le Guyader, Gwenaël, Bilan, Frederic, Henderson, Lindsay B., Lemke, Johannes R., Taschenberger, Holger, Brose, Nils, Abou Jamra, Rami, Wojcik, Sonja M.

Source: Annals of neurology. 92(6):958-973

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164877666.0x000001&indx=1&recIds=ETOCvdc_100164877666.0x000001

Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome

Authors: Ahimaz, Priyanka, Kramer, Tamar, Swaroop, Pooja, Mitchell, McKenzie, Hernan, Rebecca, Anyane‐Yeboa, Kwame, Pereira, Elaine M.

Source: American journal of medical genetics.Part A. 188(11):3172-3183

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163936504.0x000001&indx=1&recIds=ETOCvdc_100163936504.0x000001

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Authors: Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M., Josiah, Sunday S., Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J., Hao, Le T., Li, Hong, Stevenson, Roger E., Louie, Raymond J., Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F. Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A., Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M., Barr, Eileen E., Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G., Monaghan, Kristin G., Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K., Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M., Berger, Sara M., Milla, Sarah S., Jaykumar, Ankita B., Cobb, Melanie H., Panchagnula, Shreyas, Duy, Phan Q., Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill. A., Friez, Michael J., Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E., Schwartz, Charles E., Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T., Isidor, Bertrand

Source: In Genetics in Medicine September 2022 24(9):1941-1951

Clinical Course of a Unique Case of Allgrove Syndrome and Challenges of Hypoglycemia Management

Authors: Lu, Chang, Lee, Ting A., Pan, Debra H., Pereira, Elaine M., Zhou, Ping ^*

Source: In AACE Clinical Case Reports November-December 2019 5(6):e357-e361

Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome

Authors: Lin, Angela E., Alali, Abdulrazak, Starr, Lois J., Shah, Nidhi, Beavis, Anna, Pereira, Elaine M., Lindsay, Mark E., Klugman, Susan

Source: American journal of medical genetics.Part A. 182(2):328-337

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097831424.0x000001&indx=1&recIds=ETOCvdc_100097831424.0x000001

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Authors: Rönkkö, Julius, Molchanova, Svetlana, Revah‐Politi, Anya, Pereira, Elaine M., Auranen, Mari, Toppila, Jussi, Kvist, Jouni, Ludwig, Anastasia, Neumann, Julika, Bultynck, Geert, Humblet‐Baron, Stéphanie, Liston, Adrian, Paetau, Anders, Rivera, Claudio, Harms, Matthew B., Tyynismaa, Henna, Ylikallio, Emil

Source: Annals of clinical and translational neurology. 7(10):1962-1972

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149722652.0x000001&indx=1&recIds=ETOCvdc_100149722652.0x000001

Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine.

Authors: Freiman, Andrew^1,2, Rekab, Aisha^1,3, Bergner, Amanda L.^1,4,5, Pereira, Elaine M.⁶, Lin, Yuhuan⁷, Ahimaz, Priyanka^1,3, pa2422@cumc.columbia.edu

Source: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-11, 11p

CHAPTER79 - Common Monogenetic Conditions in Newborns

Authors: Umandap, Christine H., Pereira, Elaine M.

Source: In Principles of Neonatology 2024:690-698

CARMIL2‐related immunodeficiency manifesting with photosensitivity

Authors: Shayegan, Leila H., Garzon, Maria C., Morel, Kimberly D., Borlack, Rachel, Vuguin, Patricia M., Margolis, Kara G., Demirdag, Yesim Y., Pereira, Elaine M., Lauren, Christine T.

Source: Pediatric dermatology. 37(4):695-697

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107615006.0x000001&indx=1&recIds=ETOCvdc_100107615006.0x000001

Capítulo 8 - Genética

Authors: Anyane-Yeboa, Kwame, Pereira, Elaine M., Iglesias, Alejandro

Source: In Pediatría. Secretos Edition: Seventh Edition. 2022:262-286

Familial inheritance of the 3q29 microdeletion syndrome: case report and review

Authors: Khan, Wahab A., Cohen, Ninette, Scott, Stuart A., Pereira, Elaine M.

Source: BMC medical genomics. 12(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127205362.0x000001&indx=1&recIds=ETOCvdc_100127205362.0x000001

List of Contributors

Authors: Agrawal, Pankaj B., Akhtar, Yasmin, Alallah, Jubara, Alhassen, Ziad, Altit, Gabriel, AlZubaidi, Abbas, Amlani, Lahin M., Antelo, Martin, Athalye-Jape, Gayatri, Badarch, Jargalsaikhan, Baer, Gerri, Bagga, Nitasha, Bahr, Timothy M., Bar-Cohen, Yaniv, M. Barr, Stephanie, Bauer, Andrew J., Bearer, Cynthia F., Beckman, Ross M., Beltempo, Marc, Bembea, Melania M., Berlin, Sheila, Berry, Shandeigh N., Bhandari, Vineet, Bhatia, Shaifali, Bhombal, Shazia, Bigelow, Elaine O., Blevins, Carley, Boppana, Suresh, Boss, Renee, Brooks, Sandra, Buonocore, Giuseppe, Burnsed, Jennifer, Calabria, Andrew C., Carrasco, Melisa, Carter, Brian S., Chandrasekharan, Praveen, Chavez-Valdez, Raul, Choleva, Lauryn, Christensen, Robert D., Chung, Wendy K., Coggins, Sarah A., Cooke, David W., Cummings, Laura, Currie, Erin R., Davidson, Joanne O., Davis, Jonathan M., Day-Richardson, Colby L., De Leon, Diva D., Dedhia, Kavita, Dendi, Alvaro, Deshpande, Anita, Dionne, Janis M., Donda, Keyur, Donohue, Lee, Doyle, Jefferson J., Dulkerian, Susan J., Dumpa, Vikramaditya, Duncan, Andrea F., Dunham, Alexandra M., Ecret, DiAnn, Ellis, Kelstan, El-Metwally, Dina, Etchill, Eric W., Ethawi, Yahya, Everett, Allen D., Fabres, Jorge, Felling, Ryan J., Fenton, Tanis R., Flannery, Dustin D., Flynn, Joseph T., Fredenburg, Michaelene, Fuqua, John, Garcia, Alejandro V., Garzon, Steven, Gauda, Estelle B., Thompson, Marisa Gilstrop, Goldenberg, Barton, Salazar, Andres J. Gonzalez, Goodwin, Julie E., Goudy, Steven L., Graham, Ernest, Grauerholz, Kathryn, Groves, Mari L., Guillot, Mireille, Gunn, Alistair J., Gupta, Arjun, Hackam, David J., Hidalgo, Joaquin, Honcharuk, Erin, Htun, Zeyar, Hudak, Mark L., Driscoll, Colleen A. Hughes, Huisman, Thierry A.G.M., Jabroun, Mireille, Jackson, Eric M., Jain, Naveen, Jain, Rajesh, Jelin, Angie, Jelin, Eric, Juul, Sandra E., Kaufman, David A., BMBS, Alison Kent, Khuder, Sundos, Kovler, Mark L., Kraus, Courtney L., Krishnamurthy, Ganga, Kukora, Stephanie K., Kumar, Ashok, Kunisaki, Shaun M., Kuper-Sassé, Margaret, Kwiatkowski, David M., Lakshminrusimha, Satyan, Laventhal, Naomi T., Lawrence, Shelley M., Lee-Winn, Angela E., Leuthner, Steven, Lewallen, Laura, Lewis, Tamorah R., Liken, Hillary B., Liubšys, Arūnas, Lui, Kei, Maheshwari, Akhil, Maitre, Nathalie L., Makker, Kartikeya, Mammen, Cherry, J. Martin, Richard, Mattos Castellano, María, Maxwell, Jessie R., McFarlane, Renske, McLemore, Gabrielle, McNelis, Kera M., McPherson, Christopher, Mietzsch, Ulrike, Milante, Rachel R., Miller, Jena L., Mukhopadhyay, Sagori, Mynak, Mimi L., Nasr, Isam W., Natarajan, Niranjana, Navaneethan, Hema, Nees, Shannon N., Nguyen, Mai, Noori, Shahab, Odackal, Namrita J., Ohls, Robin K., Ostrander, Betsy E., Pammi, Mohan, Parimi, Prabhu S., Park, Albert, Patil, Monika S., Pereira, Elaine M., Premkumar, Muralidhar H., Price-Douglas, Webra, Puopolo, Karen M., Rabe, Heike, M. Rahman, Mohammad, Reber, Kristina, Kallem, Venkat Reddy, Repka, Michael X., Rhee, Daniel S., Ringle, Megan L., Rohrer, Allison, Romero, Christopher J., Ryan, Marisa A., Sampah, Maame E.S., Sanchez-Valle, Amarilis, Sant’Anna, Guilherme M., Saugstad, Ola D., RobertH., Anne and, Schacht, John P., Schelonka, Robert L., Schofield, Erin E., Selewski, David T., Shah, Prakesh S., Shih, Jessica G., Sibinga, Erica M.S., Sigal, Winnie, Sims, Brian, Singh, Rachana, Singh, Srijan, Snyder, Donna, Sobrero, Helena, Sponseller, Paul D., Stafstrom, Carl E., Steflik, Heidi J., Sun, Lisa R., Sundararajan, Sripriya, Taylor, Sarah N., Terrin, Norma, Thacker, Prolima G., Thébaud, Bernard, Toms, Rune, Torres, Benjamin A., Tunkel, David E., Umandap, Christine H., Chaves, Diana Vargas, Vento, Maximo, Walsh, Jonathan, Walter, Jolan, Weaver, Meaghann S., Weimer, Kristin, Weller, Jennine, Winter, Lindy W., Wu, Tai-Wei, Yau, Mabel

Source: In Principles of Neonatology 2024:vi-xiv

Chapter 8 - Genetics

Authors: Anyane-Yeboa, Kwame, Pereira, Elaine M., Iglesias, Alejandro

Source: In Pediatric Secrets Edition: Seventh Edition. 2021:262-286

COVID-19’s Impact on Genetics at One Medical Center in New York

Authors: Pereira, Elaine M., Ahimaz, Priyanka, Andrews, Carli, Anyane-Yeboa, Kwame, Arsov, Todor, Berger, Sara M., Chilton, Ilana, Cory, Diana M., Chung, Wendy K., Dergham, Katia R., Disco, Michele M., Ernst, Michelle E., Forman, Tamar, Galloway, Stephanie, Geltzeiler, Alexa R., Giordano, Jessica L., Griffin, Emily, Guzman, Edwin, Harkavy, Nina, Hernan, Rebecca, Hetzler, Anah K., Iglesias, Alejandro, Kakar, Rupinder, Kentros, Catherine, Khonje, Thandiwe C., Koval, Carrie, Levinson, Elana, Robinson, Scott, Ross, Meredith J., Sadeque-Iqbal, Fatema, Spiegel, Erica, Spitz, Elana, Wapner, Ronald J.

Source: In Genetics in Medicine September 2020 22(9):1467-1469

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.

Authors: Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun

Source: Frontiers in Genetics; 7/19/2022, Vol. 13, p1-8, 8p

Subject Terms: MATERNAL age, CHROMOSOME analysis, CHORIONIC villus sampling, CENTROMERE, GENETIC markers, GROSS motor ability, AMNIOTIC liquid, IDENTIFICATION of fishes

Expanding the phenotype of ATP6AP1 deficiency.

Authors: Barua, Subit, Berger, Sara, Pereira, Elaine M., Jobanputra, Vaidehi

Source: Cold Spring Harbor Molecular Case Studies; Jun2022, Vol. 8 Issue 4, p1-11, 11p

Subject Terms: PROTON pumps (Biology), ADENOSINE triphosphate, EUKARYOTIC cells, NEUROLOGIC manifestations of general diseases, CONGENITAL disorders

Colaboradores

Authors: Anyane-Yeboa, Kwame, Bregstein, Joan S., Brennan, Kathleen G., Chalom, Elizabeth Candell, Chen, Jing, Conrad, Máire A., Constantinescu, Andrei, Ditmar, Mark F., Eichenfield, Andrew H., Foca, Marc D., Garzon, Maria C., Hayes, Constance J., Hoffman, Noah J.F., Hordof, Allan J., Iglesias, Alejandro, Kaplan, Bernard S., LaRosa, Christopher, Lauren, Christine T., Lee, Alice, Leibel, Natasha, Leone, Tina A., Levin, Laura E., Maxwell, Elizabeth C., McDonough, Tiffani L., McKenzie, Steven E., Meyers, Kevin E.C., Morel, Kimberly D., Oberfield, Sharon E., Omesi, Lenore, Pereira, Elaine M., Picoraro, Joseph A., Potter, Julia, Prabhu, Elizabeth, Riviello, James J., Jr., Romo, Dina L., Rose, Carlos D., Roye, Benjamin D., Sonnett, Meridith, Soren, Karen, Starc, Thomas J., Szalontay, Luca, Teplow-Phipps, Randi, Webb, Jennifer L., Williams, Kristen M.

Source: In Pediatría. Secretos Edition: Seventh Edition. 2022:vi-ix

Contributors

Authors: Anyane-Yeboa, Kwame, Bregstein, Joan S., Brennan, Kathleen G., Chalom, Elizabeth Candell, Chen, Jing, Conrad, Máire A., Constantinescu, Andrei, Ditmar, Mark F., Eichenfield, Andrew H., Foca, Marc D, Garzon, Maria C., Hayes, Constance J., Hoffman, Noah J.F., Hordof, Allan J., Iglesias, Alejandro, Kaplan, Bernard S., LaRosa, Christopher, Lauren, Christine T., Lee, Alice, Leibel, Natasha, Leone, Tina A., Levin, Laura E., Maxwell, Elizabeth C., McDonough, Tiffani L., McKenzie, Steven E., Meyers, Kevin E.C., Morel, Kimberly D., Oberfield, Sharon E., Omesi, Lenore, Pereira, Elaine M., Picoraro, Joseph A., Potter, Julia, Prabhu, Elizabeth, Riviello, James J., Romo, Dina L., Rosé, Carlos D., Roye, Benjamin D., Sonnett, Meridith, Soren, Karen, Starc, Thomas J., Szalontay, Luca, Teplow-Phipps, Randi, Webb, Jennifer L., Williams, Kristen M.

Source: In Pediatric Secrets Edition: Seventh Edition. 2021:viii-xi