Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series von Goodspeed, Kimberly, Newsom, Cassandra, Morris, Mary Ann, Powell, Craig, Evans, Patricia, Golla, Sailaja

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Chronic Neurology in COVID-19 Era: Clinical Considerations and Recommendations From the REPROGRAM Consortium von Bhaskar, Sonu, Bradley, Sian, Israeli-Korn, Simon, Menon, Bindu, Chattu, Vijay Kumar, Thomas, Pravin, Chawla, Jasvinder, Kumar, Rajeev, Prandi, Paolo, Ray, Daniel, Golla, Sailaja, Surya, Nirmal, Yang, Harvey, Martinez, Sandra, Ozgen, Mihriban Heval, Codrington, John, González, Eva María Jiménez, Toosi, Mandana, Hariya Mohan, Nithya, Menon, Koravangattu Valsraj, Chahidi, Abderrahmane, Mederer Hengstl, Susana

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Evaluation of an artificial intelligence-based medical device for diagnosis of autism spectrum disorder von Megerian, Jonathan T., Dey, Sangeeta, Melmed, Raun D., Coury, Daniel L., Lerner, Marc, Nicholls, Christopher J., Sohl, Kristin, Rouhbakhsh, Rambod, Narasimhan, Anandhi, Romain, Jonathan, Golla, Sailaja, Shareef, Safiullah, Ostrovsky, Andrey, Shannon, Jennifer, Kraft, Colleen, Liu-Mayo, Stuart, Abbas, Halim, Gal-Szabo, Diana E., Wall, Dennis P., Taraman, Sharief

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Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort von Berry-Kravis, Elizabeth, Filipink, Robyn A, Frye, Richard E, Golla, Sailaja, Morris, Stephanie M, Andrews, Howard, Choo, Tse-Hwei, Kaufmann, Walter E

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Pitt-Hopkins Syndrome: A 23-Patient Case Series (P1.297) von Goodspeed, Kimberly, Newsom, Cassandra, Morris, Mary Ann, Powell, Craig, Evans, Patricia, Golla, Sailaja

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Coagulation Profile Is Not a Predictor of Acute Cerebrovascular Events in Pediatric Extracorporeal Membrane Oxygenation Patients von Anton-Martin, Pilar, Journeycake, Janna, Modem, Vinai, Golla, Sailaja, Raman, Lakshmi, Tweed, Jefferson, Darnell-Bowens, Cindy

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.

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Performance of Canvas Dx, a Novel Software-based Autism Spectrum Disorder Diagnosis Aid for Use in a Primary Care Setting (P13-5.001) von Megerian, Jonathan T., Dey, Sangeeta, Melmed, Raun D., Coury, Daniel L., Lerner, Marc, Nicholls, Christopher, Sohl, Kristin, Rouhbakhsh, Rambod, Narasimhan, Anandhi, Romain, Jonathan, Golla, Sailaja, Shareef, Safiullah, Ostrovsky, Andrey, Shannon, Jennifer, Kraft, Colleen, Liu-Mayo, Stuart, Abbas, Halim, Gal-Szabo, Diana E., Wall, Dennis P., Taraman, Sharief

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Neurodevelopmental Outcomes in Extracorporeal Membrane Oxygenation Patients: A Pilot Study von Dhar, Archana V., Scott, Stacey, Anton-Martin, Pilar, Tweed, Jefferson, Morris, Mary Ann, Modem, Vinai, Raman, Lakshmi, Golla, Sailaja

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Corticosteroid therapy in regressive autism: Preliminary findings from a retrospective study von Golla, Sailaja, Sweeney, John A

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Efficacy of Low-Dose Buspirone for Restricted and Repetitive Behavior in Young Children with Autism Spectrum Disorder: A Randomized Trial von Chugani, Diane C., PhD, Chugani, Harry T., MD, Wiznitzer, Max, MD, Parikh, Sumit, MD, Evans, Patricia A., MD, PhD, Hansen, Robin L., MD, Nass, Ruth, MD, Janisse, James J., PhD, Dixon-Thomas, Pamela, PhD, Behen, Michael, PhD, Rothermel, Robert, PhD, Parker, Jacqueline S., BSc, Kumar, Ajay, MD, PhD, Muzik, Otto, PhD, Edwards, David J., PharmD, Hirtz, Deborah, MD

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, Elizabeth E, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogne, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S, Chedrawi, Aziza, Hashem, Mais O, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stephanie, Raynaud, Martine, Motter, Constance S, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Benedicte, Warde, Marie-Therese Abi, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M, Sands, Tristan T, Wilson, Golder N, Silvertooth, Erin J, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H, Ockeloen, Charlotte W, Pfundt, Rolph, Kroft, Sanne D, Field, Michael, Laranjeira, Francisco E. R, Fortuna, Ana M, Soares, Ana R, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D, Bird, Lynne M, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Polsler, Laura, Campeau, Philippe M, Blazo, Maria, Bijlsma, Emilia K, Rosenfeld, Jill A, Beetz, Christian, Powis, Zoe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikael, Mohammad, Shekeeb S, Armstrong, Ruth, Kalscheuer, Vera M

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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications von Szafranski, Przemyslaw, Golla, Sailaja, Jin, Weihong, Fang, Ping, Hixson, Patricia, Matalon, Reuben, Kinney, Daniel, Bock, Hans-Georg, Craigen, William, Smith, Janice L, Bi, Weimin, Patel, Ankita, Wai Cheung, Sau, Bacino, Carlos A, Stankiewicz, Paweł

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Identification of novel candidate disease genes from de novo exonic copy number variants von Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A, Coban-Akdemir, Zeynep, Pursley, Amber N, Nagamani, Sandesh C S, Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G, Matalon, Reuben, Emrick, Lisa, Proud, Monica B, Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R, Nugent, Kimberly M, Bader, Patricia I, Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P, Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L, Lalani, Seema R, Bacino, Carlos A, Beaudet, Arthur L, Breman, Amy M, Smith, Janice L, Cheung, Sau Wai, Lupski, James R, Patel, Ankita, Shaw, Chad A, Stankiewicz, Paweł

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Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T von Golla, Sailaja, Ren, Jimin, Malloy, Craig R, Pascual, Juan M

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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite von Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja, Boidein, Francoise, Duban-Bedu, Benedicte, Delobel, Bruno, Andrieux, Joris, Becker, Kerstin, Holinski-Feder, Elke, Cheung, Sau Wai, Stankiewicz, Pawel

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Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants von Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, Paweł Stankiewicz

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, Elizabeth E, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S, Chedrawi, Aziza, Hashem, Mais O, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M, Sands, Tristan T, Wilson, Golder N, Silvertooth, Erin J, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H, Ockeloen, Charlotte W, Pfundt, Rolph, Kroft, Sanne D, Field, Michael, Laranjeira, Francisco ER, Fortuna, Ana M, Soares, Ana R, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D, Bird, Lynne M, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M, Blazo, Maria, Bijlsma, Emilia K, Rosenfeld, Jill A, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S, Armstrong, Ruth, Kalscheuer, Vera M

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Additional file 1: of Identification of novel candidate disease genes from de novo exonic copy number variants von Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, Paweł Stankiewicz

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Additional file 4: of Identification of novel candidate disease genes from de novo exonic copy number variants von Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, Paweł Stankiewicz

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