Most Accessed

Most Accessed 04/2025

• Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Anna C. Jansen, Sophie Rijn
  Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2022, vol. 188, no. 7, p. 1943
• Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Valeria Bertini, Silvia Piantoni, Alessia Caproli, Silvia Ebe Lucia Della Pina, Franco Franceschini, Guido Zarattini, Woodrow Gandy, Marina Venturini, Nicoletta Zoppi, Marina Colombi
  Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2025, vol. 197, eLoc. e63857
• Alasdair Hunter, Jaime L. Frias, Gabriele Gillessen‐Kaesbach, Helen Hughes, Kenneth Lyons Jones, Louise Wilson
  Elements of morphology: Standard terminology for the ear [Research Article]
  Am. J. Med. Genet. 2009, vol. 149A, no. 1, p. 40
• Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti-Furga
  Nosology of genetic skeletal disorders: 2023 revision [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2023, vol. 191, no. 5, p. 1164
• D.O. Sillence, F.S. Van Dijk
  Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment [Research Review]
  Am. J. Med. Genet. 2014, vol. 164, no. 6, p. 1470
• Bryan D. Hall, John M. Graham, Suzanne B. Cassidy, John M. Opitz
  Elements of morphology: Standard terminology for the periorbital region [Research Article]
  Am. J. Med. Genet. 2009, vol. 149A, no. 1, p. 29
• Siddharth Srivastava, Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante-Otoo, William E. Bennett, Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos Bueno, Maya Chopra, Celanie K. Christensen, Jennifer L. Cully, Kira Dies, Kate Friedman, Brittany Gummere, J. Lloyd Holder, Andres Jimenez-Gomez, Carolyn A. Kerins, Omar Khan, Teresa Kohlenberg, Ronald V. Lacro, Lori A. Levi, Tess Levy, Diane Linnehan, Loth Eva, Baharak Moshiree, Ann Neumeyer, Scott M. Paul, Katy Phelan, Antonio Persico, Robert Rapaport, Curtis Rogers, Jeffrey Saland, Swathi Sethuram, Janine Shapiro, Phillip I. Tarr, Kerry M. White, Jordan Wickstrom, Kent M. Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon
  Updated consensus guidelines on the management of Phelan-McDermid syndrome [REVIEW ARTICLE]
  Am. J. Med. Genet. 2023, vol. 191, no. 8, p. 2015
• Saskia M. Maas, Peter Lauffer, Guido Cocchi, Madison DeMarchis, Andrew M. George, Alessandro Mussa, Francesco Pellegrino, Alexander M. J. Spaans, Emma C. van den Brink, Jan M. Wit, Leonie A. Menke, Jennifer M. Kalish
  Growth Charts for Children With Beckwith-Wiedemann Spectrum [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2025, eLoc. e64073
• Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni
  Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2025, eLoc. e64076
• Moira S. Cheung, Tim J. Cole, Paul Arundel, Nicola Bridges, Christine P. Burren, Trevor Cole, Justin Huw Davies, Lars Hagenäs, Wolfgang Högler, Anthony Hulse, Avril Mason, Ciara McDonnell, Andrea Merker, Klaus Mohnike, Ataf Sabir, Mars Skae, Anya Rothenbuhler, Justin Warner, Melita Irving
  Growth reference charts for children with hypochondroplasia [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, no. 2, p. 243
• Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong
  A New EP300-Related Syndrome With Prominent Developmental and Immune Phenotypes [CASE REPORT]
  Am. J. Med. Genet. 2025, eLoc. e64050
• Amy R. U. L. Calhoun, Amanda Lortz, T. Charles Casper, John C. Carey
  Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-) [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2025, eLoc. e64075
• Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Marika Vezzoli, Marina Venturini, Marina Colombi
  Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, no. 2, p. 174
• Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti
  Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, eLoc. e63646
• Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole D. Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel V. DiGiacomo, Kara M. Masse, Sarah M. Kadzielski, Claire A. Zar-Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen A. Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay, , Luisa Paredes Acosta, Jennifer A. Bassetti, Sarah Bowdin, Joy A. Bress, Joseph A. Camarda, Joanne S. Chiu, C. Eduardo Corrales, Gregory Costain, Mary Beth P. Dinulos, Rajiv Devanagondi, Emily S. Doherty, John Dykes, Ann-Christine Duhaime, Robert F. English, Elizabeth Fieg, Nora D. B. Friedman, Carl P. Garabedian, Samantha Glowacki, Barbara R. Gottlieb, Mary Hope Griffin, Frances J. Hayes, Stephanie R. Hicks, Alicia M. Hinze, Brigette A. Jason, Joel Krier, Kristen Lindgren, Michael Lyons, Adnan Majid, Hannah C. Mannem, Marie McDonald, Vinod Misra, Amy Morgan, Barbara J. Nath, Michele Ploutz, Eloise J. Prijoles, Margaret B. Pulsifer, Alicia M. Quesnel, Farrah Rajabi, Mersedeh Rohanizadegan, Ana Maria Rosales, Holly Rothermel, Edith Schussler, Elizabeth A. Sellars, Joseph Shieh, Stephanie Sherrill, Heidi Taska-Tench, Matthew Thompson, George E. Tiller, Stephanie E. Vallee, David Viskochil, Stephanie Ware, Rachel C. Whooten, Samuel Yang, Elaine H. Zackai, Dala Zakaria
  Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023) [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, eLoc. e63638

Most Accessed 05/2024 to 04/2025

• Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Valeria Bertini, Silvia Piantoni, Alessia Caproli, Silvia Ebe Lucia Della Pina, Franco Franceschini, Guido Zarattini, Woodrow Gandy, Marina Venturini, Nicoletta Zoppi, Marina Colombi
  Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2025, vol. 197, eLoc. e63857
• Alasdair Hunter, Jaime L. Frias, Gabriele Gillessen‐Kaesbach, Helen Hughes, Kenneth Lyons Jones, Louise Wilson
  Elements of morphology: Standard terminology for the ear [Research Article]
  Am. J. Med. Genet. 2009, vol. 149A, no. 1, p. 40
• Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti-Furga
  Nosology of genetic skeletal disorders: 2023 revision [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2023, vol. 191, no. 5, p. 1164
• Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Anna C. Jansen, Sophie Rijn
  Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2022, vol. 188, no. 7, p. 1943
• Siddharth Srivastava, Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante-Otoo, William E. Bennett, Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos Bueno, Maya Chopra, Celanie K. Christensen, Jennifer L. Cully, Kira Dies, Kate Friedman, Brittany Gummere, J. Lloyd Holder, Andres Jimenez-Gomez, Carolyn A. Kerins, Omar Khan, Teresa Kohlenberg, Ronald V. Lacro, Lori A. Levi, Tess Levy, Diane Linnehan, Loth Eva, Baharak Moshiree, Ann Neumeyer, Scott M. Paul, Katy Phelan, Antonio Persico, Robert Rapaport, Curtis Rogers, Jeffrey Saland, Swathi Sethuram, Janine Shapiro, Phillip I. Tarr, Kerry M. White, Jordan Wickstrom, Kent M. Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon
  Updated consensus guidelines on the management of Phelan-McDermid syndrome [REVIEW ARTICLE]
  Am. J. Med. Genet. 2023, vol. 191, no. 8, p. 2015
• Judith E. Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Max Muenke, Giovanni Neri
  Elements of morphology: Standard terminology for the head and face [Research Article]
  Am. J. Med. Genet. 2009, vol. 149A, no. 8, p. 6
• Bryan D. Hall, John M. Graham, Suzanne B. Cassidy, John M. Opitz
  Elements of morphology: Standard terminology for the periorbital region [Research Article]
  Am. J. Med. Genet. 2009, vol. 149A, no. 8, p. 29
• Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole D. Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel V. DiGiacomo, Kara M. Masse, Sarah M. Kadzielski, Claire A. Zar-Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen A. Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay, , Luisa Paredes Acosta, Jennifer A. Bassetti, Sarah Bowdin, Joy A. Bress, Joseph A. Camarda, Joanne S. Chiu, C. Eduardo Corrales, Gregory Costain, Mary Beth P. Dinulos, Rajiv Devanagondi, Emily S. Doherty, John Dykes, Ann-Christine Duhaime, Robert F. English, Elizabeth Fieg, Nora D. B. Friedman, Carl P. Garabedian, Samantha Glowacki, Barbara R. Gottlieb, Mary Hope Griffin, Frances J. Hayes, Stephanie R. Hicks, Alicia M. Hinze, Brigette A. Jason, Joel Krier, Kristen Lindgren, Michael Lyons, Adnan Majid, Hannah C. Mannem, Marie McDonald, Vinod Misra, Amy Morgan, Barbara J. Nath, Michele Ploutz, Eloise J. Prijoles, Margaret B. Pulsifer, Alicia M. Quesnel, Farrah Rajabi, Mersedeh Rohanizadegan, Ana Maria Rosales, Holly Rothermel, Edith Schussler, Elizabeth A. Sellars, Joseph Shieh, Stephanie Sherrill, Heidi Taska-Tench, Matthew Thompson, George E. Tiller, Stephanie E. Vallee, David Viskochil, Stephanie Ware, Rachel C. Whooten, Samuel Yang, Elaine H. Zackai, Dala Zakaria
  Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023) [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, eLoc. e63638
• Raoul C.M. Hennekam, Valerie Cormier‐Daire, Judith G. Hall, Károly Méhes, Michael Patton, Roger E. Stevenson
  Elements of morphology: Standard terminology for the nose and philtrum [Research Article]
  Am. J. Med. Genet. 2009, vol. 149A, no. 10, p. 61
• Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Marika Vezzoli, Marina Venturini, Marina Colombi
  Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, no. 2, p. 174
• John C. Carey, M. Michael Cohen, Cynthia J.R. Curry, Koenraad Devriendt, Lewis B. Holmes, Alain Verloes
  Elements of morphology: Standard terminology for the lips, mouth, and oral region [Research Article]
  Am. J. Med. Genet. 2009, vol. 149A, no. 2, p. 77
• Moira S. Cheung, Tim J. Cole, Paul Arundel, Nicola Bridges, Christine P. Burren, Trevor Cole, Justin Huw Davies, Lars Hagenäs, Wolfgang Högler, Anthony Hulse, Avril Mason, Ciara McDonnell, Andrea Merker, Klaus Mohnike, Ataf Sabir, Mars Skae, Anya Rothenbuhler, Justin Warner, Melita Irving
  Growth reference charts for children with hypochondroplasia [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, no. 2, p. 243
• D.O. Sillence, F.S. Van Dijk
  Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment [Research Review]
  Am. J. Med. Genet. 2014, vol. 164, no. 6, p. 1470
• Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti
  Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, eLoc. e63646
• Carlos R. Ferreira
  The burden of rare diseases [RESEARCH REVIEW]
  Am. J. Med. Genet. 2019, vol. 179, no. 6, p. 885
• Priya S. Kishnani, Lothar Seefried, Kathryn M. Dahir, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, William R. Mowrey, Shona Fang, Keiichi Ozono, Wolfgang Högler, Cheryl Rockman-Greenberg
  New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, eLoc. e63781
• I Karen Temple, John M. Opitz, Judith G. Hall, Judith E. Allanson, Leslie G. Biesecker, Raoul C. Hennekam, John C. Carey,
  Elements of morphology: General terms for congenital anomalies [Research Article]
  Am. J. Med. Genet. 2013, vol. 161, no. 11, p. 2726
• Marzena Kawczynski, Myriam Chalendar, Sebastien Troester, Sophie Jung, François Clauss, François Ferré, Laurence Jordan, Marie-Violaine Berteretche, Rufino Felizardo, Brigite Vi-Fane, Pascal Garrec, Steve Toupenay, Stephane Kerner, Marie-Laure Boy-Lefèvre, Lisa Friedlander, Raoul C. Hennekam, Ana Carolina Acevedo, Maria Cristina Manzanares, Benjamin Philippe Fournier, Muriel Dure-Molla, Jessica Chaloyard, , Marie Cécile Manière, Ariane Berdal, Agnès Bloch-Zupan
  Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2019, vol. 179, no. 10, p. 1913
• Leslie G. Biesecker, Jon M. Aase, Carol Clericuzio, Fiorella Gurrieri, I. Karen Temple, Helga Toriello
  Elements of morphology: Standard terminology for the hands and feet [Research Article]
  Am. J. Med. Genet. 2009, vol. 149A, no. 10, p. 93
• Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert-Dussardier, Busa Tiffany, Chantal Missirian, Marjolaine Willems, Sylvie Odent, Josette Lucas, Christele Dubourg, Elise Schaefer, Sophie Scheidecker, James Lespinasse, Alice Goldenberg, Anne-Marie Guerrot, Géraldine Joly-Helas, Pascal Chambon, Cédric Le Caignec, Albert David, Charles Coutton, Véronique Satre, Gaëlle Vieville, Florence Amblard, Radu Harbuz, Damien Sanlaville, Marianne Till, Catherine Vincent-Delorme, Cindy Colson, Joris Andrieux, Sophie Naudion, Jérome Toutain, Caroline Rooryck, Bénédicte de Fréminville, Fabienne Prieur, Valérie Cormier Daire, Daniel Amram, Pascale Kleinfinger, Matthias B. Schulze, Gisela Raabe-Meyer, Carolina Courage, Johannes Lemke, Eunice G. Stefanou, Thomaidis Loretta, Manolakos Emmanouil, Sophia Kitsiou Tzeli, Henryka Sodowska, Jasen Anderson, Adayapalam Nandini, Henri Copin, Loïc Garçon, Thomas Liehr, Gilles Morin
  Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, eLoc. e63476
• Allison Goetsch Weisman, Shelly Weiss McQuaid, Heather B. Radtke, Jessica Stoll, Bryce Brown, Alicia Gomes
  Neurofibromatosis- and schwannomatosis-associated tumors: Approaches to genetic testing and counseling considerations [REVIEW ARTICLE]
  Am. J. Med. Genet. 2023, vol. 191, no. 10, p. 2467
• Gabriella Gazdagh, David Hunt, Anna Maria Cueto Gonzalez, Monserrat Pons Rodriguez, Ayeshah Chaudhry, Marcos Madruga, Fleur Vansenne, Deborah Shears, Aurore Curie, Eva-Lena Stattin, Britt-Marie Anderlid, Slavica Trajkova, Elena Sukarova Angelovska, Catherine McWilliam, Philip R. Wyatt, Mary O'Driscoll, Giles Atton, Anke K. Bergman, Pia Zacher, Leena D. Mewasingh, Antonio Gonzalez-Meneses López, Olga Alonso-Luengo, Htoo A. Wai, Ottilie Rohde, Pauline Boiroux, Anne Debant, Susanne Schmidt, Diana Baralle
  Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2023, vol. 191, no. 7, p. 1722
• Marybeth Ezaki, Ahmad Alomari, Julie C. Sapp, Marjorie J. Lindhurst, Robert K. Semple, Victoria E.R. Parker, Jonathan J. Rios, Kim M. Keppler-Noreuil, William Dobyns, Leslie G. Biesecker
  PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation [Conference Report]
  Am. J. Med. Genet. 2015, vol. 167, no. 2, p. 287
• Miska Kandolin, Minna Pöyhönen, Eveliina Jakkula
  Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, eLoc. e63588
• Samantha A. Schrier Vergano
  ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals [ORIGINAL ARTICLE]
  Am. J. Med. Genet. 2024, vol. 194, eLoc. e63540