Ingrid M Wentzensen - GeneDx Inc, Gaithersburg, MD USA

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Papers共 73 篇Author StatisticsCo-AuthorSimilar Experts

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Bobbi Mcgivern, Michelle M. Morrow,Erin Torti,Kirsty Mcwalter,Ingrid M. Wentzensen,Kristin G. Monaghan,Amanda Gerard,Laurie Robak,David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy,Paul Kruszka

HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2025)

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BCL11A Intellectual Developmental Disorder: Defining the Clinical Spectrum and Genotype-Phenotype Correlations

Angela Peron, Felice D'Arco,Kimberly A. Aldinger,Constance Smith-Hicks, Christiane Zweier,Gyri A. Gradek,Kimberley Bradbury, Andrea Accogli,Erica F. Andersen,Ping Yee Billie Au, Roberta Battini,Daniah Beleford,Lynne M. Bird,Arjan Bouman,Ange-Line Bruel,Oyvind Lovold Busk,Philippe M. Campeau, Valeria Capra,Colleen Carlston,Jenny Carmichael,Anna Chassevent,Jill Clayton-Smith,Michael J. Bamshad,Dawn L. Earl,Laurence Faivre,Christophe Philippe,Patrick Ferreira, Luitgard Graul-Neumann, Mary J. Green,Darrah Haffner,Parthiv Haldipur, Suhair Hanna,Gunnar Houge,Wendy D. Jones, Cornelia Kraus, Birgit Elisabeth Kristiansen,James Lespinasse,Karen J. Low,Sally Ann Lynch,Sofia Maia,Rong Mao, Ruta Kalinauskiene,Catherine Melver,Kimberly McDonald,Tara Montgomery,Manuela Morleo,Constance Motter,Amanda S. Openshaw,Janice Cox Palumbos,Aditi Shah Parikh, Yezmin Perilla-Young,Cynthia M. Powell,Richard Person,Megha Desai,Juliette Piard, Rolph Pfundt, Marcello Scala,Margaux Serey-Gaut,Deborah Shears,Anne Slavotinek,Mohnish Suri,Claire Turner,Tatiana Tvrdik,Karin Weiss,Ingrid M. Wentzensen,Marcella Zollino,Tzung-Chien Hsieh, Bert B. A. de Vries,Francois Guillemot,William B. Dobyns,David Viskochil,Cristina Dias

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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LARP1 Haploinsufficiency is Associated with an Autosomal Dominant Neurodevelopmental Disorder

HUMAN GENETICS AND GENOMICS ADVANCESno. 4 (2024)

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Heterozygous CELF4 Variants in the N-term Region Crucial for the RNA-binding Activity, Leads to Neurodevelopmental Disorder and Obesity

Ange-Line Bruel, Anneke Vulto-van Silfhout, Frederic Bilan, Gwenaël Le Guyader, Brigitte Gilbert-Dussardier, Xavier Le Guillou Horn, Sophie Rondeau, Marlène RIO, Kristen Lee, Adelyn Beil,Mohnish Suri, François Guerin, Valentin Ruault,Alice Goldenberg,François Lecoquierre, Nicole Bertsch, Rhonda Anderson, Xiao-Ru Yang, Micheil Inness, Emi Rikeros-Orozco, Maria Palomares-Bralo, Jennifer Hayek, Jennifer Cech, Ankita Jhuraney, Runjun Kumar, Saadet Mercimek-Andrews, Anastasia Ambrose, Erin Wakeling,Ingrid Wentzensen,Erin Torti, Catherine Gooch,Laurence Faivre, Christophe Philippe, Yannis Duffourd,Antonio Vitobello, Christel Thauvin-Robinet

crossref（2024）

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De Novo Missense Variants in Exon 9 of SEPHS1 Cause a Neurodevelopmental Condition with Developmental Delay, Poor Growth, Hypotonia, and Dysmorphic Features

Sureni V. Mullegama,Kaitlyn A. Kiernan,Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao,Joseph T. Alaimo,Kendra Engleman,Eric T. Rush, Karli Blocker,Katrina M. Dipple,Veronica M. Fettig, Heather Hare,Ian Glass,Dorothy K. Grange, Michael Griffin,Chanika Phornphutkul,Lauren Massingham,Lakshmi Mehta,Danny E. Miller,Jenny Thies,J. Lawrence Merritt II, Eric Muller II,Matthew Osmond,Sarah L. Sawyer,Rachel Slaugh,Rachel E. Hickey,Barry Wolf,Sanjeev Choudhary,Miljan Simonovic, Yueqing Zhang,Timothy Blake Palculict,Aida Telegrafi,Deanna Alexis Carere,Ingrid M. Wentzensen,Michelle M. Morrow,Kristin G. Monaghan,Jun Yang,Jane Juusola

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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Role of CAMK2D in Neurodevelopment and Associated Conditions

AMERICAN JOURNAL OF HUMAN GENETICSno. 2 (2024)

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Unveiling the Crucial Neuronal Role of the Proteasomal ATPase Subunit Gene PSMC5 in Neurodevelopmental Proteasomopathies

Sébastien Küry,Janelle E Stanton,Geeske van Woerden,Tzung-Chien Hsieh,Cory Rosenfelt,Marie Pier Scott-Boyer,Victoria Most,Tianyun Wang,Jonas Johannes Papendorf,Charlotte de Konink,Wallid Deb,Virginie Vignard,Maja Studencka-Turski,Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel,Sophie Möller,Laëtitia Florenceau,Silvestre Cuinat, Sylvain Marsac,Ingrid Wentzensen, Annabelle Tuttle,Cara Forster,Johanna Striesow,Richard Golnik,Damara Ortiz, Laura Jenkins,Jill A Rosenfeld,Alban Ziegler,Clara Houdayer,Dominique Bonneau,Erin Torti,Amber Begtrup,Kristin G Monaghan,Sureni V Mullegama, C M L Nienke Volker-Touw,Koen L I van Gassen,Renske Oegema, Mirjam de Pagter,Katharina Steindl,Anita Rauch,Ivan Ivanovski,Kimberly McDonald,Emily Boothe,Andrew Dauber,Janice Baker, Noelle Andrea V Fabie,Raphael A Bernier,Tychele N Turner,Siddharth Srivastava,Kira A Dies,Lindsay Swanson,Carrie Costin,Rebekah K Jobling,John Pappas,Rachel Rabin,Dmitriy Niyazov,Anne Chun-Hui Tsai, Karen Kovak,David B Beck, McV Malicdan,David R Adams,Lynne Wolfe,Rebecca D Ganetzky,Colleen Muraresku,Davit Babikyan,Zdeněk Sedláček,Miroslava Hančárová,Andrew T Timberlake,Hind Al Saif, Berkley Nestler,Kayla King,M J Hajianpour,Gregory Costain, D'Arcy Prendergast,Chumei Li,David Geneviève,Antonio Vitobello,Arthur Sorlin,Christophe Philippe,Tamar Harel,Ori Toker,Ataf Sabir,Derek Lim,Mark Hamilton,Lisa Bryson,Elaine Cleary,Sacha Weber,Trevor L Hoffman,Anna Maria Cueto-González,Eduardo Fidel Tizzano,David Gómez-Andrés,Marta Codina-Solà,Athina Ververi,Efterpi Pavlidou,Alexandros Lambropoulos,Kyriakos Garganis,Marlène Rio,Jonathan Levy,Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard,Maria Daniela D'Agostino,Isabelle De Bie,Meret Wegler,Rami Abou Jamra,Susanne B Kamphausen,Viktoria Bothe,Larissa M Busch,Uwe Völker,Elke Hammer,Kristian Wende,Benjamin Cogné,Bertrand Isidor,Jens Meiler, Amélie Bosc-Rosati,Julien Marcoux,Marie-Pierre Bousquet,Jeremie Poschmann,Frédéric Laumonnier,Peter W Hildebrand,Evan E Eichler,Kirsty McWalter,Peter M Krawitz,Arnaud Droit,Ype Elgersma,Andreas M Grabrucker,Francois V Bolduc,Stéphane Bézieau,Frédéric Ebstein,Elke Krüger

medRxiv the preprint server for health sciences (2024)

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features (vol 111, pg 778, 2024)

Sureni V. Mullegama,Kaitlyn A. Kiernan,Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao,Joseph T. Alaimo,Kendra Engleman,Eric T. Rush, Karli Blocker,Katrina M. Dipple,Veronica M. Fettig, Heather Hare,Ian Glass,Dorothy K. Grange, Michael Griffin,Chanika Phornphutkul,Lauren Massingham,Lakshmi Mehta,Danny E. Miller,Jenny Thies,J. Lawrence Merritt,Eric Muller,Matthew Osmond,Sarah L. Sawyer,Rachel Slaugh,Rachel E. Hickey,Barry Wolf,Sanjeev Choudhary,Miljan Simonovic, Yueqing Zhang,Timothy Blake Palculict,Aida Telegrafi,Deanna Alexis Carere,Ingrid M. Wentzensen,Michelle M. Morrow,Kristin G. Monaghan,Jane Juusola,Jun Yang

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1240-1240

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