Sarah E Sheppard

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 22

Top Topics

Mitochondrial Dna

Intellectual Disability

Aortic Valve Replacement

Top Venues

American journal of medical genetics. Part A

Science advances

Pediatric dermatology

Nature medicine

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

Publications

Bede N Nriagu, Lydia S Williams, Niambi Brewer, Lea F Surrey, Abhay S Srinivasan, Dong Li, Allison Britt, James Treat, T Blaine Crowley, Nora O'Connor, Arupa Ganguly, David Low, Maria Queenan, Theodore G Drivas, Elaine H Zackai, Denise M Adams, Hakon Hakonarson, Kristen M Snyder, Sarah E Sheppard
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. American journal of medical genetics. Part A (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Dhyanam P Shukla, Jennifer Ortiz Cutshall, Lex van der Heijden, Erica Schindewolf, Sarah E Sheppard
The importance of patient-specific resources for families dealing with prenatal rare diseases. American journal of medical genetics. Part A (2023)
Diana H Zarowin, Warren R Heymann, Albert C Yan, James Treat, Sarah E Sheppard
Segmental vasoconstricted patches with a border of telangiectasia. Pediatric dermatology 40 (3) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Amber Bolli, Bede Nriagu, Allison D Britt, Anjali D Toole, James Treat, Abhay Srinivasan, Sarah E Sheppard
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth. American journal of medical genetics. Part A (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Dong Li, Sarah E Sheppard, Michael E March, Mark R Battig, Lea F Surrey, Abhay S Srinivasan, Leticia S Matsuoka, Lifeng Tian, Fengxiang Wang, Christoph Seiler, Jill Dayneka, Alexandra J Borst, Mary C Matos, Scott M Paulissen, Ganesh Krishnamurthy, Bede N Nriagu, Tamjeed Sikder, Melissa Casey, Lydia Williams, Sneha Rangu, Nora O'Connor, Alexandria Thomas, Erin Pinto, Cuiping Hou, Kenny Nguyen, Renata Pellegrino da Silva, Samar N Chehimi, Charlly Kao, Lauren Biroc, Allison D Britt, Maria Queenan, Janet R Reid, Joseph A Napoli, David M Low, Seth Vatsky, James Treat, Christopher L Smith, Anne Marie Cahill, Kristen M Snyder, Denise M Adams, Yoav Dori, Hakon H Hakonarson
Genomic profiling informs diagnoses and treatment in vascular anomalies. Nature medicine (2023)
Mandi Liu, Christopher L Smith, David M Biko, Dong Li, Erin Pinto, Nora O'Connor, Cara Skraban, Elaine H Zackai, Hakon Hakonarson, Yoav Dori, Sarah E Sheppard
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. European journal of human genetics : EJHG 30 (9) (2022)
Alicia B Byrne, Pascal Brouillard, Drew L Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A Secker, Anna Oszmiana, Milena Babic, Kelly L Betterman, Peter J Brautigan, Melissa White, Sandra G Piltz, Paul Q Thomas, Christopher N Hahn, Matthias Rath, Ute Felbor, G Christoph Korenke, Christopher L Smith, Kathleen H Wood, Sarah E Sheppard, Denise M Adams, Ariana Kariminejad, Raphaël Helaers, Laurence M Boon, Nicole Revencu, Lynette Moore, Christopher P Barnett, Eric Haan, Peer Arts, Miikka Vikkula, Hamish S Scott, Natasha L Harvey
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science translational medicine 14 (634) (2022)
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina B Gold, Dong Li, Hans T Bjornsson, Julie S Cohen, Jill A Fahrner, Ali Fatemi, Jacqueline R Harris, Catherine Nowak, Cathy A Stevens, Katheryn Grand, Margaret G Au, John M Graham, Pedro A Sanchez-Lara, Miguel Del Campo, Marilyn C Jones, Omar A Abdul-Rahman, Fowzan Sami Alkuraya, Jennifer A Bassetti, Katherine L Bergstrom, Elizabeth Joyce Bhoj, Sarah Dugan, Julie D Kaplan, Nada Derar, Karen W Gripp, Natalie S Hauser, A Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J Nowaczyk, Zuhair Rahbeeni, Shay Ben-Shachar, Joseph T Shieh, Anne Slavotinek, Andrew K Sobering, Mary-Alice Abbott, Dawn C Allain, Louise Amlie-Wolf, Ping Yee Billie Au, Emma C Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A Bernstein, Cheryl Cytrynbaum, Brian Hon-Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison J Eaton, Josue A Flores-Daboub, Holly Dubbs, Carolyn A Felix, Chin-To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui-Yan Kwok, Rebekah K Jobling, Amy E Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D Ross McLeod, Frank D Mentch, Kelly Minks, Colleen Muraresku, Stanley F Nelson, Patrizia Porazzi, Pavel N Pichurin, Nina N Powell-Hamilton, Zoe Powis, Alyssa L Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Janelle Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J Zand, Marni J Falk, Hakon H Hakonarson, Elaine H Zackai, Fabiola Quintero-Rivera
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American journal of medical genetics. Part A 185 (6) (2021)
Dong Li, Sarah E Sheppard, Christina Peroutka, Caitlin Barnes, Janet R Reid, Christopher L Smith, Yoav Dori, Hakon Hakonarson
Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1. Clinical genetics 99 (5) (2021)
Bede N Nriagu, Victoria R Sanders, Lionel G Bercovitch, Kristen M Snyder, Elizabeth A Cross, James R Treat, Sarah E Sheppard
Misdiagnosis of capillary malformations in darker skin phototypes. Pediatric dermatology (2021)
Katherine Taylor Wild, Tomoki T Nomakuchi, Sarah E Sheppard, Karla F Leavens, Diva D De León, Elaine H Zackai
Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome. American journal of medical genetics. Part A 185 (4) (2021)
Mindy H Li, Jennifer Glass, Xiaoli Du, Holly Dubbs, Margaret Horton Harr, Marni Falk, Teresa Smolarek, Robert J Hopkin, Elaine Zackai, Sarah E Sheppard
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. American journal of medical genetics. Part A 185 (8) (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, Brett Barrett, Colleen Muraresku, Heather McKnight, Diva D De León, Katherine Lord, Rebecca D Ganetzky
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas. American journal of medical genetics. Part A 185 (2) (2020)
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)
Sarah E Sheppard, Laura Elizabeth Anderson, Cathryn Sibbald, Colleen Cotton, Elizabeth Bhoj, Marissa J Perman, Leslie A Castelo-Soccio
Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation. Pediatric dermatology 36 (6) (2019)
Sarah E Sheppard, Emilie Lalonde, N Scott Adzick, Anita E Beck, Tricia Bhatti, Diva D De León, Kelly A Duffy, Arupa Ganguly, Evan Hathaway, Jianling Ji, Rebecca L Linn, Katherine Lord, Linda M Randolph, Brian Sajorda, Lisa States, Laura K Conlin, Jennifer M Kalish
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Ian M Campbell, Sarah E Sheppard, Terrence Blaine Crowley, Daniel E McGinn, Alice Bailey, Michael J McGinn, Marta Unolt, Jelle F Homans, Erin Y Chen, Harold I Salmons, J William Gaynor, Elizabeth Goldmuntz, Oksana A Jackson, Lorraine E Katz, Maria R Mascarenhas, Vincent F X Deeney, René M Castelein, Karen B Zur, Lisa Elden, Staci Kallish, Thomas F Kolon, Sarah E Hopkins, Madeline A Chadehumbe, Michele P Lambert, Brian J Forbes, Julie S Moldenhauer, Erica M Schindewolf, Cynthia B Solot, Edward M Moss, Raquel E Gur, Kathleen E Sullivan, Beverly S Emanuel, Elaine H Zackai, Donna M McDonald-McGinn
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. American journal of medical genetics. Part A 176 (10) (2019)