Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders

LMSz方法——一种可自动化的、可扩展的构建基因特异性生长曲线的方法，适用于罕见疾病

European Journal of Human Genetics

IF4.6

2025-10-130

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

IF2

2025-10-010

OAAI

Klein Haneveld, Mirthe J.; Swieczkowska, Katarzyna; Grybek, Tomasz; Labunets, Kinga; van Amelsvoort, Therese A. M. J.; Bedeschi, Maria F.; Behan, Claire; Dufke, Andreas; Dupont, Juliette; Gaasterland, Charlotte M. W.; Garavelli, Livia; Helverschou, Sissel B.; Mcanallen, Susan; Milska-Musa, Katarzyna A.; van Staa, Anneloes; Streata, Ioana; Stumpel, Connie T. R. M.; Tamburrino, Federica; Vasseghi, Mary; Vyshka, Klea; Wierzba, Jolanta M.; ERN ITHACA Guideline Working Grp; van Eeghen, Agnies M.

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

White–Sutton综合征：19例意大利队列的研究洞见

Clinical Genetics

IF2.3

2025-07-230

OAAI

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2025-02-260

PRE

Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco

CDK13相关疾病：来自27例病例系列的新见解及临床管理建议

CLINICAL GENETICS

IF2.3

2025-02-190

OAAI

Gianluca Contrò; Maria Chiara Baroni; Stefano Giuseppe Caraffi; Manuela Napoli; Rosangela Artuso; Annarita Giliberti; Sara Bargiacchi; Giorgia Mancano; Giovanna Traficante; Mafalda Mucciolo; Francesca Clementina Radio; Viviana Cordeddu; Cecilia Mancini; Irene Bottillo; Federica Anna Pirro; Maria Teresa Bonati; Cord-Christian Becker; Diana Carli; Alessandro Mussa; Maria Isis Atallah Gonzalez; Inge Lore Ruiz-Arana; Camille Kumps; Isabelle Maystadt; Stephanie Moortgat; Alp Peker; Maria Piccione; Paola Grammatico; Nino Rostomashvili; Jonathan Lévy; Marcello Scala; Valeria Capra; Annalaura Torella; Clare van Eyk; Bertrand Isidor; Benjamin Cogne; Siddharth Srivastava; Aisling Quinlan; Alessandro Vaisfeld; Laura Licchetta; Daniele Frattini; Claudio Graziano; Giulia Severi; Isabelle Bacchi; Luca Soliani; Elliott H. Sherr; Emanuela Argilli; Himanshu Goel; Chiara De Luca; Silvia Leonardi; Francesco Brancati; Flavio Faletra; Catia Mio; Silvia Braibanti; Giancarlo Gargano; Carlo Fusco; Antonio Novelli; Marco Tartaglia; Livia Garavelli

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder

EMBO JOURNAL

IF8.3

2024-12-020

PRE

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-09-100

PRE

Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E.; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R.; Lindsay, Mark E.; Schimmenti, Lisa A.; Hinze, Alicia M.; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valerie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Senol; Arslan Ates, Esra; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Smith, Justin; Simkins, Jessica; Clark, Don; Karatsinides, Stephanie; Taylor, Sandy; White, Ines; Schultz, Patti; Wears, Kate; Holder, Levi; Young, Kathy; Lin, Angela E.; Callewaert, Bert

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-07-124

PRE

Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E.; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R.; Lindsay, Mark E.; Schimmenti, Lisa A.; Hinze, Alicia M.; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valerie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Senol; Ates, Esra Arslan; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Smith, Justin; Simkins, Jessica; Clark, Don; Karatsinides, Stephanie; Taylor, Sandy; White, Ines; Schultz, Patti; Wears, Kate; Holder, Levi; Young, Kathy; Lin, Angela E.; Callewaert, Bert

Identification of the DNA methylation signature of Mowat-Wilson syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-02-132

OAAI

'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2023-12-180

OAAI

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

JOURNAL OF MEDICAL GENETICS

IF3.7

2023-08-167

OAAI

Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Smeland, Marie Falkenberg; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B-related神经发育障碍的临床和分子谱

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-06-0111

OAAI

Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gael; Kuepper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kramer, Jamie M.; Kleefstra, Tjitske

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-04-0111

OAAI

Lecca, Mauro; Pehlivan, Davut; Suner, Damia Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contro, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, Maria Angeles; Bauza, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anais; Unger, Sheila; Gungor, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmueller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R.; Errichiello, Edoardo

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

BIOMEDICINES

IF3.9

2023-02-249

OAAI

Livia Garavelli

个人简介

教育背景

工作经历

荣誉奖项

研究方向