☆ 4.2 Editorial Material

Wolf-Hirschhorn Syndrome and the 4p-Related Syndromes INTRODUCTION

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2008)

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Volume 148C, Issue 4, Pages 241-243

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WILEY-LISS

DOI: 10.1002/ajmg.c.30189

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Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

Jian Wang, Shiyuan Zhou, Fei He, Xuelian Zhang, Jianqi Lu, Jian Zhang, Feng Zhang, Xiangmin Xu, Fang Yang, Fu Xiong

Summary: Wolf-Hirschhorn syndrome, a contiguous microdeletion syndrome caused by deletions on chromosome 4p, manifests as intellectual disability/developmental delay and multiple congenital anomalies.

FRONTIERS IN GENETICS (2021)

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Article Neurosciences

Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome

Thiago Correa, Maytza Mayndra, Cintia B. Santos-Reboucas

Summary: This study evaluated common mechanisms between candidate genes from Wolf-Hirschhorn syndrome (WHS) seizure-susceptibility regions (SSR) and genes associated with epilepsy. Functional modules and signaling pathways involving candidate and new genes were identified, with potential involvement in the WHS-related seizure phenotype.

MOLECULAR NEUROBIOLOGY (2022)

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Article Obstetrics & Gynecology

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome

Corinna Simonini, Markus Hoopmann, Karl Oliver Kagan, Torsten Schroeder, Ulrich Gembruch, Annegret Geipel

Summary: This study aimed to examine the prenatal ultrasound findings in fetuses with Wolf-Hirschhorn syndrome (WHS). The results showed that facial abnormalities, symmetric intrauterine growth restriction (IUGR), and microcephaly were the most frequent ultrasound findings, while growth retardation, cardiac anomalies, and single umbilical artery were also common. Therefore, WHS should be considered when these abnormalities are detected on prenatal ultrasound, and genetic testing is strongly recommended.

BMC PREGNANCY AND CHILDBIRTH (2022)

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Review Genetics & Heredity

Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review

Xuan Zhang, Hongjuan Lu, Hanran Yang, Yichen Ji, Huixin Liu, Wenjian Liu, Jiayi Li, Zhixian Yang, Wei Sun

Summary: Structural rearrangements of chromosome 4p result in rare genomic disorders, including Wolf-Hirschhorn syndrome (WHS) and partial 4p trisomy. Two cases were presented, demonstrating the clinical manifestations of different chromosomal imbalances in chromosome 4p. The study highlights the pathogenicity of terminal 4p deletion and provides insights into genotype-phenotype correlations.

FRONTIERS IN GENETICS (2023)

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Review Pediatrics

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

Eva-Cristiana Gavril, Alina Costina Luca, Alexandrina-Stefania Curpan, Roxana Popescu, Irina Resmerita, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Cristina Rusu

Summary: Wolf-Hirschhorn syndrome is a rare disorder characterized by a variety of clinical features, including facial dysmorphism, intellectual disability, heart defects, and hypotonia, with some cases also presenting seizures, immunodeficiencies, and renal anomalies. MLPA is a reliable screening method that can be used as a diagnostic test and a tool to select cases for further investigation.

CHILDREN-BASEL (2021)

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Article Pediatrics

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

Qi Yang, Di Gong, Shang Yi, Jingsi Luo, Qinle Zhang

Summary: Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder caused by a heterozygous deletion on chromosome 4p16.3, while Rauch-Steindl syndrome (RSS) is characterized by mild developmental delay, prenatal-onset growth restriction, and characteristic facial features. In this study, a novel NSD2 truncating variant was identified in a Chinese girl with RSS, further supporting the role of NSD2 haploinsufficiency in WHS. Molecular genetic testing is more accurate for diagnosing these patients and the discovery of this new variant expands the mutation spectrum of NSD2.

FRONTIERS IN PEDIATRICS (2023)

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Review Genetics & Heredity

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review

Feng Tang, Yang Zeng, Li Wang, Daishu Yin, Lin Chen, Dan Xie, Jing Wang

Summary: By analyzing prenatal ultrasound abnormalities, this study improved our understanding of the prenatal presentation of Wolf-Hirschhorn syndrome (WHS). The timely identification of prenatal ultrasound abnormalities can provide accurate consultation for pregnant women, improve the prenatal detection of WHS, and enable early prenatal management and intervention of WHS.

MOLECULAR GENETICS & GENOMIC MEDICINE (2023)

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Article Genetics & Heredity

Parent-authored memoirs: Lessons in the practice of narrative medicine

John C. Carey

Summary: Healthcare professionals, especially those in genetic medicine, can benefit from gaining insights into the experiences of parents raising children with rare diseases or developmental disabilities. By actively listening to parents' stories and reading memoirs, medical professionals can enhance their empathy and narrative medicine skills.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Review Genetics & Heredity

Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature

Mona K. Mekkawy, Alaa K. Kamel, Manal M. Thomas, Engy A. Ashaat, Maha S. Zaki, Ola M. Eid, Samira Ismail, Saida A. Hammad, Hisham Megahed, Heba ElAwady, Khaled M. Refaat, Shymaa Hussien, Nivine Helmy, Sally G. Abd Allah, Amal M. Mohamed, Mona O. El Ruby

Summary: This study presented the clinical manifestations and cytogenetic results of 10 unrelated Egyptian patients with 4p deletions, showing all patients exhibited cardinal features of WHS and detecting specific gene deletions in two patients. A new finding of Branchial fistula in one patient was reported, while LETM1 gene deletion was found in patients tested by array CGH.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

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Article Cell Biology

Emerging role of LETM1/GRP78 axis in lung cancer

Quangdon Tran, Hyunji Lee, Jae Hun Jung, Seung-Hee Chang, Robin Shrestha, Gyeyeong Kong, Jisoo Park, Seon-Hwan Kim, Kyu-Sang Park, Hyun-Woo Rhee, Jeanho Yun, Myung-Haing Cho, Kwang Pyo Kim, Jongsun Park

Summary: The study found that LETM1 is overexpressed in lung cancer cells, leading to fragmentation of mitochondria and upregulation of mitophagy. Glucose-regulated protein 78 (GRP78) was found to interact with LETM1, and this interaction was enhanced in cells treated with a mitophagy-inducing chemical. Furthermore, the study showed that honokiol, a GRP78 inhibitor, blocked LETM1-mediated mitophagy, and CRISPR/Cas9-mediated GRP75 knockout inhibited LETM1-induced autophagy.

CELL DEATH & DISEASE (2022)

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Article Multidisciplinary Sciences

Genome-wide CRISPR-Cas9 screen analyzed by SLIDER identifies network of repressor complexes that regulate TRIM24

Lalit R. Patel, Sabrina A. Stratton, Megan Mclaughlin, Patrick Krause, Kendra Allton, Andres Lopez Rivas, Daniela Barbosa, Traver Hart, Michelle C. Barton

Summary: TRIM24 is an oncogenic chromatin reader that is frequently overexpressed and associated with poor prognosis in human tumors. A genome-wide CRISPR-Cas9 screen identified negative regulators of TRIM24, including the KAP1 corepressor, CNOT deadenylase, and GID/CTLH E3 ligase. Knocking out these regulators led to TRIM24 overexpression, highlighting their negative regulation of TRIM24. The study also introduced a new scoring system, SLIDER, which enables analysis of CRISPR screens performed by FACS.

ISCIENCE (2023)

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Review Pediatrics

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature

Luisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, Fabio Sirchia

Summary: Wolf-Hirschhorn syndrome (WHS) is a well-defined disorder with great phenotypic variability due to the variable extent of the responsible 4p deletion. Recent studies have identified NSD2 and NELFA as genes contributing to atypical or partial WHS. This case report describes a child with WHS caused by a de novo mutation of NSD2, highlighting the importance of considering this differential diagnosis when evaluating children with WHS-like phenotypes.

ITALIAN JOURNAL OF PEDIATRICS (2022)

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Review Genetics & Heredity

The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology

Agatino Battaglia, John C. Carey

Summary: The history and chronology of Wolf-Hirschhorn syndrome (WHS) demonstrate the advances in genetic technology over the last six decades. The development of FISH probes and cytogenomic microarray technology enabled the characterization of critical regions for WHS and improved diagnosis. Recent exome sequencing technology has led to the discovery of WHS patients with specific genetic variants associated with cardinal features of the syndrome.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Genetics & Heredity

Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals

Agatino Battaglia, Amanda Lortz, John C. Carey

Summary: Wolf-Hirschhorn syndrome (WHS) is a genetic disorder characterized by growth deficiency, craniofacial features, intellectual disability, and seizures. This study assessed the health conditions and functioning of 35 adult individuals with WHS, finding that 66% require close to total care, 31% are partly self-independent, and 3% are fully independent. Overall, the majority of the cohort enjoy good health.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Biochemistry & Molecular Biology

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

Alba-Aina Castells, Rafel Balada, Alba Tristan-Noguero, Mar O'Callaghan, Elisenda Cortes-Saladelafont, Ainhoa Pascual-Alonso, Angels Garcia-Cazorla, Judith Armstrong, Soledad Alcantara

Summary: This study aims to explore potential biomarkers for Rett syndrome and MECP2 duplication syndrome, and establish a foundation for early diagnosis and monitoring of disease progression. The results suggest the possibility of identifying specific miRNA biomarker panels to aid in stratification of patient groups.

BIOMEDICINES (2021)

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Article Behavioral Sciences

A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome

Karen S. Ho, Leah M. Markham, Hope Twede, Amanda Lortz, Lenora M. Olson, Xiaoming Sheng, Cindy Weng, E. Robert Wassman, Tara Newcomb, E. Robert Wassman, John C. Carey, Agatino Battaglia

EPILEPSY & BEHAVIOR (2018)

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Article Multidisciplinary Sciences

Analysis of shared heritability in common disorders of the brain

Verneri Anttila, Brendan Bulik-Sullivan, Hilary K. Finucane, Raymond K. Walters, Jose Bras, Laramie Duncan, Valentina Escott-Price, Guido J. Falcone, Padhraig Gormley, Rainer Malik, Nikolaos A. Patsopoulos, Stephan Ripke, Zhi Wei, Dongmei Yu, Phil H. Lee, Patrick Turley, Benjamin Grenier-Boley, Vincent Chouraki, Yoichiro Kamatani, Claudine Berr, Luc Letenneur, Didier Hannequin, Philippe Amouyel, Anne Boland, Jean-Francois Deleuze, Emmanuelle Duron, Badri N. Vardarajan, Christiane Reitz, Alison M. Goate, Matthew J. Huentelman, M. Ilyas Kamboh, Eric B. Larson, Ekaterina Rogaeva, Peter St George-Hyslop, Hakon Hakonarson, Walter A. Kukull, Lindsay A. Farrer, Lisa L. Barnes, Thomas G. Beach, F. Yesim Demirci, Elizabeth Head, Christine M. Hulette, Gregory A. Jicha, John S. K. Kauwe, Jeffrey A. Kaye, James B. Leverenz, Allan I. Levey, Andrew P. Lieberman, Vernon S. Pankratz, Wayne W. Poon, Joseph F. Quinn, Andrew J. Saykin, Lon S. Schneider, Amanda G. Smith, Joshua A. Sonnen, Robert A. Stern, Vivianna M. Van Deerlin, Linda J. Van Eldik, Denise Harold, Giancarlo Russo, David C. Rubinsztein, Anthony Bayer, Magda Tsolaki, Petra Proitsi, Nick C. Fox, Harald Hampel, Michael J. Owen, Simon Mead, Peter Passmore, Kevin Morgan, Markus M. Noethen, Martin Rossor, Michelle K. Lupton, Per Hoffmann, Johannes Kornhuber, Brian Lawlor, Andrew McQuillin, Ammar Al-Chalabi, Joshua C. Bis, Agustin Ruiz, Merce Boada, Sudha Seshadri, Alexa Beiser, Kenneth Rice, Sven J. van der Lee, Philip L. De Jager, Daniel H. Geschwind, Matthias Riemenschneider, Steffi Riedel-Heller, Jerome I. Rotter, Gerhard Ransmayr, Bradley T. Hyman, Carlos Cruchaga, Montserrat Alegret, Bendik Winsvold, Priit Palta, Kai-How Farh, Ester Cuenca-Leon, Nicholas Furlotte, Tobias Kurth, Lannie Ligthart, Gisela M. Terwindt, Tobias Freilinger, Caroline Ran, Scott D. Gordon, Guntram Borck, Hieab H. H. Adams, Terho Lehtimaki, Juho Wedenoja, Julie E. 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Hoekstra, Alden Huang, Chaim Huyser, Cornelia Illmann, Michael Jenike, Samuel Kuperman, Bennett Leventhal, Christine Lochner, Gholson J. Lyon, Fabio Macciardi, Marcos Madruga-Garrido, Irene A. Malaty, Athanasios Maras, Lauren McGrath, Euripedes C. Miguel, Pablo Mir, Gerald Nestadt, Humberto Nicolini, Michael S. Okun, Andrew Pakstis, Peristera Paschou, John Piacentini, Christopher Pittenger, Kerstin Plessen, Vasily Ramensky, Eliana M. Ramos, Victor Reus, Margaret A. Richter, Mark A. Riddle, Mary M. Robertson, Veit Roessner, Maria Rosario, Jack F. Samuels, Paul Sandor, Dan J. Stein, Fotis Tsetsos, Filip Van Nieuwerburgh, Sarah Weatherall, Jens R. Wendland, Tomasz Wolanczyk, Yulia Worbe, Gwyneth Zai, Fernando S. Goes, Nicole McLaughlin, Paul S. Nestadt, Hans-Jorgen Grabe, Christel Depienne, Anuar Konkashbaev, Nuria Lanzagorta, Ana Valencia-Duarte, Elvira Bramon, Nancy Buccola, Wiepke Cahn, Murray Cairns, Siow A. Chong, David Cohen, Benedicto Crespo-Facorro, James Crowley, Michael Davidson, Lynn DeLisi, Timothy Dinan, Gary Donohoe, Elodie Drapeau, Jubao Duan, Lieuwe Haan, David Hougaard, Sena Karachanak-Yankova, Andrey Khrunin, Janis Klovins, Vaidutis Kucinskas, Jimmy Lee Chee Keong, Svetlana Limborska, Carmel Loughland, Jouko Lonnqvist, Brion Maher, Manuel Mattheisen, Colm McDonald, Kieran C. Murphy, Igor Nenadic, Jim van Os, Christos Pantelis, Michele Pato, Tracey Petryshen, Digby Quested, Panos Roussos, Alan R. Sanders, Ulrich Schall, Sibylle G. Schwab, Kang Sim, Hon-Cheong So, Elisabeth Stoegmann, Mythily Subramaniam, Draga Toncheva, John Waddington, James Walters, Mark Weiser, Wei Cheng, Robert Cloninger, David Curtis, Pablo V. Gejman, Frans Henskens, Morten Mattingsdal, Sang-Yun Oh, Rodney Scott, Bradley Webb, Gerome Breen, Claire Churchhouse, Cynthia M. Bulik, Mark Daly, Martin Dichgans, Stephen V. Faraone, Rita Guerreiro, Peter Holmans, Kenneth S. Kendler, Bobby Koeleman, Carol A. Mathews, Alkes Price, Jeremiah Scharf, Pamela Sklar, Julie Williams, Nicholas W. Wood, Chris Cotsapas, Aarno Palotie, Jordan W. Smoller, Patrick Sullivan, Jonathan Rosand, Aiden Corvin, Benjamin M. Neale

SCIENCE (2018)

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Article Genetics & Heredity

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange-Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogne, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M. A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martinez, Naomichi Matsumoto, Carey McDougall, Heather C. Mefford, Noriko Miyake, Candace T. Myers, Sebastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Monica Rosello, Ken Saida, Avni B. Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, Washington Ctr Mendelian Genomics D. D. D. Univ, Andre Reis, Heinrich Sticht, Christiane Zweier

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

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Article Genetics & Heredity

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Lorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, Paolo Fontana, Alma Kuechler, Genevieve Baujat, Barbara Torres, Judith Koetting, Alessandra Splendiani, Diana Postorivo, Jasmin Beygo, Francesco G. Garaci, Valerie Malan, Hermann-Josef Luedecke, Valentina Guida, Mandy Krumbiegel, Fortunato Lonardo, Antonio Novelli, Beate Albrecht, Chiara Perria, Gioacchino Scarano, Malte Spielmann, Annamaria M. Nardone, Agatino Battaglia, Francesco Brancati, Laura Bernardini

CLINICAL GENETICS (2019)

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Article Genetics & Heredity

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Lauren B. Carter, Agatino Battaglia, Athena Cherry, Melanie A. Manning, Maura R. Z. Ruzhnikov, Lynne M. Bird, Leah Dowsett, John M. Graham, Fowzan S. Alkuraya, Mais Hashem, Mary Beth Dinulos, Stephanie Vallee, Margaret P. Adam, Ian Glass, Anita E. Beck, Cathy A. Stevens, Elaine Zackai, Carey McDougall, Beth Keena, Angela Peron, Aglaia Vignoli, Laurie H. Seaver, Thomas P. Slavin, Louanne Hudgins

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

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Article Genetics & Heredity

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

Julian Nevado, Karen S. Ho, Marcella Zollino, Raquel Blanco, Cesar Cobaleda, Christelle Golzio, Isabelle Beaudry-Bellefeuille, Sarah Berrocoso, Jacobo Limeres, Pilar Barruz, Candela Serrano-Martin, Concetta Cafiero, Ignacio Malaga, Giuseppe Marangi, Elena Campos-Sanchez, Tania Moriyon-Iglesias, Sorangui Marquez, Leah Markham, Hope Twede, Amanda Lortz, Lenora Olson, Xiaoming Sheng, Cindy Weng, Edward Robert Wassman, Tara Newcomb, Edward Robert Wassman, John C. Carey, Agatino Battaglia, Eduardo Lopez-Granados, Damien Douglas, Pablo Lapunzina

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)

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Article Multidisciplinary Sciences

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

Elena Bacchelli, Cinzia Cameli, Marta Viggiano, Roberta Igliozzi, Alice Mancini, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini

SCIENTIFIC REPORTS (2020)

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Article Genetics & Heredity

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

Michael S. Breen, Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa, Anne B. Arnett, Evangeline Kurtz-Nelson, Emanuele Agolini, Agatino Battaglia, Andreas G. Chiocchetti, Christine M. Freitag, Alicia Garcia-Alcon, Paola Grammatico, Irva Hertz-Picciotto, Yunin Ludena-Rodriguez, Carmen Moreno, Antonio Novelli, Mara Parellada, Giulia Pascolini, Flora Tassone, Dorothy E. Grice, Daniele Di Marino, Raphael A. Bernier, Alexander Kolevzon, Andrew J. Sharp, Joseph D. Buxbaum, Paige M. Siper, Silvia De Rubeis

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Review Genetics & Heredity

The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology

Agatino Battaglia, John C. Carey

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Genetics & Heredity

Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals

Agatino Battaglia, Amanda Lortz, John C. Carey

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Genetics & Heredity

Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study

John C. Carey, Amanda Lortz, Alyssa Mendel, Agatino Battaglia

Summary: Wolf-Hirschhorn syndrome is a genetic disorder characterized by growth deficiency, intellectual disability, and other distinctive features. Limited research has been conducted on the long-term survival and life status of adult patients with this syndrome, but this study sheds light on the daily life and health status of adults with WHS, which will help in establishing appropriate health supervision guidelines.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Editorial Material Genetics & Heredity

Reflections on observing faces in art

Agatino Battaglia, John C. Carey

Summary: The experience of art in museums and galleries allows visitors to contemplate and share the human condition from physical and psychological perspectives. Classical European art, accessible in many museums throughout Europe, offers viewers the opportunity to experience life from different parts of the world over centuries of history. Artworks depicting human disorders and differences not only attract healthcare practitioners, but also provide insights into observing human faces from various viewpoints in history.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2021)

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Article Pediatrics

Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders

Roberta Milone, Claudia Cesario, Marina Goldoni, Rosa Pasquariello, Caterina Fusilli, Agnese Giovannetti, Sabrina Giglio, Antonio Novelli, Viviana Caputo, Giovanni Cioni, Tommaso Mazza, Agatino Battaglia, Laura Bernardini, Roberta Battini

Summary: This study evaluated the relationship between neurodevelopmental disorders, brain anomalies, and copy number variations, showing that the detection rates of brain anomalies and CMA are related to the types of patients with IDD, ASD, and/or EPI. CMA detection rate was significantly higher in patients with brain anomalies, suggesting its potential usefulness in these cases.

JOURNAL OF PEDIATRIC GENETICS (2021)

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Meeting Abstract Biochemistry & Molecular Biology

Pitt-Hopkins syndrome: dissecting the clinical and genetic heterogeneity of conditions in the phenotypic spectrum

G. Marangi, S. Frangella, S. Ricciardi, P. Chiurazzi, D. Orteschi, S. Lattante, R. Pettinato, F. Martinez, C. Magnani, C. Pantaleoni, C. Perria, G. Scarano, V. Saletti, P. Bonanni, G. Vasco, C. Lo Rizzo, A. Volzone, E. Alfei, F. Faletra, S. Romano, A. Renieri, M. Giannotta, C. Minetti, C. Bruno, M. Piccione, F. Stanzial, M. Della Monica, A. Ardissone, M. Di Giacomo, A. Battaglia, C. Graziano, L. Garavelli, M. Zollino

EUROPEAN JOURNAL OF HUMAN GENETICS (2019)

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Meeting Abstract Genetics & Heredity

PERINATAL PHENOTYPE OF 1P36 DELETION SYNDROME

L. Carter, A. Battaglia, A. Cherry, M. Manning, L. M. Bird, L. Dowsett, J. M. Graham, F. Alkuraya, M. Hashem, M. B. Dinulos, S. Vallee, M. P. Adam, I. Glass, A. E. Beck, M. R. Z. Rhuzhnikov, C. A. Stevens, E. Zackai, C. Mcdougall, B. Keena, L. Hudgins

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

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Wolf-Hirschhorn Syndrome and the 4p-Related Syndromes INTRODUCTION

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