P
Peggy Kulch
Researcher at Boston Children's Hospital
Publications - 4
Citations - 141
Peggy Kulch is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: 1p36 deletion syndrome & Hypotonia. The author has an hindex of 3, co-authored 4 publications receiving 71 citations.
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Journal ArticleDOI
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
Brieana Fregeau,Bum Jun Kim,Andres Hernandez-Garcia,Valerie K. Jordan,Megan T. Cho,Rhonda E. Schnur,Kristin G. Monaghan,Jane Juusola,Jill A. Rosenfeld,Elizabeth J. Bhoj,Elaine H. Zackai,Stephanie Sacharow,Kristin W. Barañano,Daniëlle G.M. Bosch,Bert B.A. de Vries,Kristin Lindstrom,Audrey Schroeder,Philip James,Peggy Kulch,Seema R. Lalani,Mieke M. van Haelst,Koen L.I. van Gassen,Ellen van Binsbergen,A. James Barkovich,Daryl A. Scott,Elliott H. Sherr +25 more
TL;DR: The findings suggest that mutations in RERE cause a genetic syndrome and that haploinsufficiency of RERE might be sufficient to cause many of the phenotypes associated with proximal 1p36 deletions.
Journal ArticleDOI
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Francesca Clementina Radio,Kaifang Pang,Andrea Ciolfi,Michael A. Levy,Andres Hernandez-Garcia,Lucia Pedace,Francesca Pantaleoni,Zhandong Liu,Elke de Boer,Adam Jackson,Adam Jackson,Alessandro Bruselles,Haley McConkey,Emilia Stellacci,Stefania Lo Cicero,Marialetizia Motta,Rosalba Carrozzo,Maria Lisa Dentici,Kirsty McWalter,Megha Desai,Kristin G. Monaghan,Aida Telegrafi,Christophe Philippe,Antonio Vitobello,Margaret Au,Katheryn Grand,Pedro A. Sanchez-Lara,Joanne Baez,Kristin Lindstrom,Peggy Kulch,Jessica Sebastian,Suneeta Madan-Khetarpal,Chelsea Roadhouse,Jennifer MacKenzie,Berrin Monteleone,Carol J Saunders,July K. Jean Cuevas,Laura A Cross,Dihong Zhou,Taila Hartley,Sarah L. Sawyer,Fabíola Paoli Monteiro,Tania Vertemati Secches,Fernando Kok,Laura Schultz-Rogers,Erica L. Macke,Eva Morava,Eric W. Klee,Jennifer L. Kemppainen,Maria Iascone,Angelo Selicorni,Romano Tenconi,David J. Amor,Lynn Pais,Lyndon Gallacher,Peter D. Turnpenny,Karen Stals,Sian Ellard,Sara Cabet,Gaetan Lesca,Joset Pascal,Katharina Steindl,Sarit Ravid,Karin Weiss,Alison M R Castle,Melissa T. Carter,Louisa Kalsner,Bert B.A. de Vries,Bregje W.M. van Bon,Marijke R. Wevers,Rolph Pfundt,Alexander P.A. Stegmann,Bronwyn Kerr,Helen Kingston,Kate Chandler,Willow Sheehan,Abdallah F. Elias,Deepali N. Shinde,Meghan C. Towne,Nathaniel H. Robin,Dana H. Goodloe,Adeline Vanderver,Adeline Vanderver,Omar Sherbini,Krista Bluske,R. Tanner Hagelstrom,Caterina Zanus,Flavio Faletra,Luciana Musante,Evangeline Kurtz-Nelson,Rachel K. Earl,Britt-Marie Anderlid,Gilles Morin,Marjon van Slegtenhorst,Karin E. M. Diderich,Alice S. Brooks,Joost Gribnau,Ruben Boers,Teresa Robert Finestra,Lauren Carter,Anita Rauch,Paolo Gasparini,Paolo Gasparini,Kym M. Boycott,Tahsin Stefan Barakat,John M. Graham,Laurence Faivre,Siddharth Banka,Siddharth Banka,Tianyun Wang,Evan E. Eichler,Manuela Priolo,Bruno Dallapiccola,Lisenka E.L.M. Vissers,Bekim Sadikovic,Daryl A. Scott,Jimmy Holder,Marco Tartaglia +117 more
TL;DR: In this article, the authors used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome.
Journal ArticleDOI
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné,Sophie Ehresmann,Eliane Beauregard-Lacroix,Justine Rousseau,Thomas Besnard,Thomas Garcia,Slavé Petrovski,Slavé Petrovski,Shiri Avni,Kirsty McWalter,Patrick R. Blackburn,Stephen Sanders,Kévin Uguen,Jacqueline Harris,Jacqueline Harris,Julie S. Cohen,Moira Blyth,Anna Lehman,Jonathan Berg,Mindy H. Li,Usha Kini,Shelagh Joss,Charlotte von der Lippe,Christopher T. Gordon,Christopher T. Gordon,Jennifer B. Humberson,Laurie Robak,Laurie Robak,Daryl A. Scott,Daryl A. Scott,Vernon R. Sutton,Vernon R. Sutton,Vernon R. Sutton,Cara M. Skraban,Cara M. Skraban,Jennifer J. Johnston,Annapurna Poduri,Magnus Nordenskjöld,Magnus Nordenskjöld,Vandana Shashi,Erica H. Gerkes,Ernie M.H.F. Bongers,Christian Gilissen,Yuri A. Zarate,Malin Kvarnung,Malin Kvarnung,Kevin P. Lally,Peggy Kulch,Brina Daniels,Andres Hernandez-Garcia,Nicholas Stong,Julie McGaughran,Julie McGaughran,Kyle Retterer,Kristian Tveten,Jennifer A. Sullivan,Madeleine R. Geisheker,Asbjørg Stray-Pedersen,Jennifer Tarpinian,Eric W. Klee,Julie C. Sapp,Jacob Zyskind,Øystein L. Holla,Emma Bedoukian,Francesca Filippini,Francesca Filippini,Anne Guimier,Anne Guimier,Anne Guimier,Arnaud Picard,Arnaud Picard,Øyvind L. Busk,Jaya Punetha,Rolph Pfundt,Anna Lindstrand,Anna Lindstrand,Ann Nordgren,Ann Nordgren,Fayth M. Kalb,Megha Desai,Ashley H Ebanks,Shalini N. Jhangiani,Tammie Dewan,Zeynep Coban Akdemir,Aida Telegrafi,Elaine H. Zackai,Elaine H. Zackai,Amber Begtrup,Xiaofei Song,Annick Toutain,Ingrid M. Wentzensen,Sylvie Odent,Dominique Bonneau,Xenia Latypova,Wallid Deb,Sylvia Redon,Frédéric Bilan,Marine Legendre,Caitlin Troyer,Kerri H. Whitlock,Oana Caluseriu,Marine I. Murphree,Pavel N. Pichurin,Katherine Agre,Ralitza H. Gavrilova,Tuula Rinne,Meredith Park,Catherine Shain,Erin L. Heinzen,Rui Xiao,Rui Xiao,Jeanne Amiel,Jeanne Amiel,Jeanne Amiel,Stanislas Lyonnet,Stanislas Lyonnet,Stanislas Lyonnet,Bertrand Isidor,Leslie G. Biesecker,Daniel H. Lowenstein,Jennifer E. Posey,Anne-Sophie Denommé-Pichon,Claude Férec,Xiang-Jiao Yang,Jill A. Rosenfeld,Brigitte Gilbert-Dussardier,Séverine Audebert-Bellanger,Richard Redon,Holly A.F. Stessman,Christoffer Nellåker,Yaping Yang,Yaping Yang,James R. Lupski,David Goldstein,Evan E. Eichler,Evan E. Eichler,Francois V. Bolduc,Stéphane Bézieau,Sébastien Küry,Philippe M. Campeau,Philippe M. Campeau +140 more
TL;DR: The clinical spectrum associated with TRRAP pathogenic missense variants is described, and a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants is suggested.
Journal ArticleDOI
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Lindsey D. Goodman,Lindsey D. Goodman,Heidi Cope,Zelha Nil,Zelha Nil,Thomas A. Ravenscroft,Thomas A. Ravenscroft,Wu Lin Charng,Wu Lin Charng,Shenzhao Lu,Shenzhao Lu,An-Chi Tien,An-Chi Tien,Rolph Pfundt,David A. Koolen,Charlotte A. Haaxma,Hermine E. Veenstra-Knol,Jolien S. Klein Wassink-Ruiter,Marijke R. Wevers,Melissa Jones,Laurence E. Walsh,Victoria H. Klee,Miel Theunis,Eric Legius,Dora Steel,Dora Steel,Katy Barwick,Manju A. Kurian,Manju A. Kurian,Shekeeb S. Mohammad,Russell C. Dale,Paulien A Terhal,Ellen van Binsbergen,Brian Kirmse,Bethany Robinette,Benjamin Cogné,Bertrand Isidor,Theresa A. Grebe,Theresa A. Grebe,Peggy Kulch,Bryan E. Hainline,Katherine Sapp,Eva Morava,Eric W. Klee,Erica L. Macke,Pamela Trapane,Christopher J. Spencer,Yue Si,Amber Begtrup,Matthew J. Moulton,Matthew J. Moulton,D. Dutta,D. Dutta,Oguz Kanca,Oguz Kanca,Michael F. Wangler,Michael F. Wangler,Shinya Yamamoto,Hugo J. Bellen,Queenie K.-G. Tan +59 more
TL;DR: In this paper, de novo coding variants in Transportin-2 (TNPO2) were found to cause global developmental delay (GDD), dysmorphic features, ophthalmologic abnormalities, and neurological features.