Katheryn Lynn Grand (Katheryn Grand, Katheryn L Grand)

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 15

Top Topics

Dna Methylation

Editorial Comment

Congenital Heart Disease

Medical Education

Top Venues

American journal of medical genetics. Part A

Science advances

This page only lists publications with an associated author ORCID identifier.

Publications

Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger, Katheryn Lynn Grand, Kirsty McWalter, Maria J Guillen Sacoto, Emma L Wakeling, Jane Hurst, Michael E March, Elizabeth Joyce Bhoj, Małgorzata J M Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wala, Amy Siemon, Dennis Bartholomew, Yue Huang, Hane Lee, Julian A Martinez, Eva Maria Christina Schwaibold, Theresa Brunet, Daniela Choukair, Lynn S Pais, Susan M White, John Chrisodoulou, Dana Brown, Kristin Lindstrom, Theresa Grebe, Dov Tiosano, Matthew S Kayser, Tiong Yang Tan, Matthew A Deardorff, Yuanquan Song, Hakon H Hakonarson
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Science advances 7 (20) (2021)
Pedro A Sanchez-Lara, Katheryn Lynn Grand, Maria K Haanpää, Cynthia J Curry, Raymond Yu-Jeang Wang, Fatih Ezgü, Catherine M Rose, Deepika D'Cunha Burkardt, Robert L Conway, Anju Relan, John C Carey
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr. American journal of medical genetics. Part A 185 (9) (2021)
Bahareh M Schweiger, Chaya L Esakhan, David Frishberg, Katheryn Lynn Grand, Ruchira Garg, Pedro A Sanchez-Lara
Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome. American journal of medical genetics. Part A 185 (9) (2021)
Zhiyu Qian, Katheryn Lynn Grand, Andrew Freedman, Maria C Nieto, Andrea Behlmann, Bahareh M Schweiger, Pedro A Sanchez-Lara
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development. American journal of medical genetics. Part A 185 (9) (2021)
James Clayton Parker, Sneha Rangu, Katheryn Lynn Grand, Elizabeth Joyce Bhoj, Leslie A Castelo-Soccio, Sarah E Sheppard
Genetic skin disorders: The value of a multidisciplinary clinic. American journal of medical genetics. Part A 185 (4) (2021)
Sarah E Sheppard, Anna Smith, Katheryn Lynn Grand, Jennifer Pogoriler, Adam I Rubin, Erica M Schindewolf, Mark P Fitzgerald, Julie Moldenhauer, Pablo Laje, William Peranteau, Elizabeth Joyce Bhoj, Patrick McMahon, Leslie A Castelo-Soccio
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. American journal of medical genetics. Part A 182 (4) (2020)
Kelly A Duffy, Brian J Sajorda, Alice C Yu, Evan R Hathaway, Katheryn Lynn Grand, Matthew A Deardorff, Jennifer M Kalish
Beckwith-Wiedemann syndrome in diverse populations. American journal of medical genetics. Part A 179 (4) (2019)
Chaya N Murali, Dong Li, Katheryn Lynn Grand, Hakon Hakonarson, Elizabeth Joyce Bhoj
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. American journal of medical genetics. Part A 179 (4) (2019)
Katheryn Lynn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, Deema Aljeaid, Emma C Bedoukian, Lynne M Bird, Diva D De Leon, Jullianne Diaz, Robert J Hopkin, Sejal P Kadakia, Beth Keena, Karen O Klein, Ian Krantz, Eyby Leon, Katherine Lord, Carey McDougall, Livija Medne, Cara M Skraban, Charles A Stanley, Jennifer Tarpinian, Elaine Zackai, Matthew A Deardorff, Jennifer M Kalish
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. American journal of medical genetics. Part A 179 (4) (2019)
Shanlee Davis, Meredith A Ware, Jordan Zeiger, Matthew A Deardorff, Katheryn Lynn Grand, Adda Grimberg, Stephanie C Hsu, Megan Kelsey, Shideh Majidi, Revi P Matthew, Melanie Napier, Natalie Nokoff, Chitra Prasad, Andrew C Riggs, Margaret L McKinnon, Ghayda M Mirzaa
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. American journal of medical genetics. Part A 182 (1) (2019)
Arpana Rayannavar, Lorraine E Levitt Katz, Terrence Blaine Crowley, Megan Lessig, Katheryn Lynn Grand, Elizabeth Goldmuntz, Elaine H Zackai, Donna M McDonald-McGinn
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome. American journal of medical genetics. Part A 176 (10) (2018)