Faculty profile

Andrea Accogli

Back to faculty

Clinical Assistant ProfessorDepartment of Human GeneticsMcGill University

Andrea Accogli

Clinical Assistant Professor

Department of Human Genetics

Faculty of Medicine and Health Sciences

McGill University

Montreal, Quebec, Canada

Supervision signals

Clinical faculty often co-supervise; many graduate programs need a core faculty member as the main supervisor.
43 publications in the last five years, latest in 2026.

These signals come from public records, including federal and provincial funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

713

Citations

Collaborators

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

Profiles and links

University Profile

Search on Google Scholar

Search on ResearchGate

iDORCID OpenAlex

Find them onX · LinkedIn · Bluesky · YouTube

Signals and details

Research

Read how they describe their research on their McGill University profile.

Latest papers

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related Disorder.
American journal of medical genetics. Part A · 2026
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.
American journal of human genetics · 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.
Genetics in medicine open · 2026

All 61 publications

61 publications.

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related Disorder.

Charouf D, Accogli A, Hamdan FF, Nardecchia F, Itai T, Myers KA, Martin CS, Srour M

American journal of medical genetics. Part A2026Open Access

DOI: 10.1002/ajmg.a.70245 PMID: 42425907

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Boon M, Mulligan MR, Verseput JJA, Šakić B, Schreurs P, Coll-Tané M, Accogli A, Alderman E, Athey T, Boerkoel C, Boni A, Caumes R, Gerkes E, Haase S, Jaillard S, Jeffries L, Kannu P, Konstantino M, Lévy J, Lokchine A, Massink M, Samra NN, Oegema R, Scala M, Schieving J, Schwartzmann S, Sczakiel HL, Smol T, Striano P, Verloes A, Begtrup A, Pfundt R, Franke B, Klein M, Schenck A, Bicknell LS, de Vries BBA

American journal of human genetics2026

DOI: 10.1016/j.ajhg.2026.07.007 PMID: 42556336

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Torella A, Morleo M, Spampanato C, Castello R, Zanobio M, Piluso G, Di Letto P, Onore ME, Rahman SI, Musacchia F, Pinelli M, Vitiello G, De Riso G, Selicorni A, Mariani M, Daolio C, Capra V, Scala M, Nardecchia F, Galosi S, Mastrangelo M, Manti F, Milani D, Romano C, Greco D, Ciaccio C, D'Arrigo S, De Laurentiis A, Coppola A, Zollino M, Pasquetti D, L'Erario FF, Tummolo A, Santoro C, Garavelli L, Marini C, Bigoni S, Tirozzi A, Cetrangolo V, Parenti G, Di Bernardo D, Peron A, Maitz S, Accogli A, Cappuccio G, Banfi S, Casari G, Ballabio A, Brunetti-Pierri N, Nigro V, Telethon Undiagnosed Disease Study group

Genetics in medicine open2026

DOI: 10.1016/j.gimo.2026.104394 PMID: 42016445

Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.

De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2025

DOI: 10.1016/j.ejpn.2024.11.008 PMID: 39603091

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

Di Pasquale G, Colella J, Di Cataldo CP, Soler MA, Fortuna S, Mizrahi-Powell E, Nizon M, Cognè B, Turchetti V, Mangano GD, Comisi FF, Cecchetti C, Giliberti A, Nardello R, Pavone P, Falsaperla R, Di Rosa G, Evrony GD, Delvecchio M, Severino M, Accogli A, Vittori A, Salpietro V

Frontiers in cellular neuroscience2025

DOI: 10.3389/fncel.2025.1664953 PMID: 41080462

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Chapman KA, Ullah F, Yahiku ZA, Khan S, Kodiparthi SV, Kellaris G, White HG, Powell AT, Correia SP, Stödberg T, Sofokleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Sciruicchio V, Salpietro V, Striano P, Muss C, Keren B, Heron D, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MR

medRxiv : the preprint server for health sciences2025

DOI: 10.1101/2024.06.27.24309417 PMID: 39006436

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Chapman KA, Ullah F, Yahiku ZA, Khan S, Kodiparthi SV, Kellaris G, White HG, Powell AT, Correia SP, Stödberg T, Sofocleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Sciruicchio V, Salpietro V, Striano P, Muss C, Keren B, Heron D, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MRC

American journal of human genetics2025

DOI: 10.1016/j.ajhg.2025.08.004 PMID: 40885185

Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.

Collins Hutchinson ML, St-Onge J, Schlienger S, Boudrahem-Addour N, Mougharbel L, Michaud JF, Lloyd C, Bruneau E, Roux C, Sahly AN, Osterman B, Myers KA, Rouleau GA, Jimenez Cruz DA, Rivière JB, Accogli A, Charron F, Srour M

Movement disorders : official journal of the Movement Disorder Society202418 citationsOpen Access

DOI: 10.1002/mds.29669 PMID: 38314870

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH

Genetics in medicine : official journal of the American College of Medical Genetics202411 citationsFirst authorOpen Access

DOI: 10.1016/j.gim.2024.101097 PMID: 38334070

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM

American journal of human genetics20248 citationsOpen Access

DOI: 10.1016/j.ajhg.2024.02.014 PMID: 38503299

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

Something wrong or missing on this profile? Suggest a correction

Andrea Accogli

Research

Latest papers

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related Disorder.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Frequent collaborators

Myriam Srour

Guy Rouleau

Yannis Trakadis

Kenneth Myers

Geneviève Bernard

Laura Russell

Philippe Campeau

Nahum Sonenberg

Frederic Charron

Peter Kannu

Ebba Alkhunaizi

Cynthia Qian

Daniela Toffoli

Rikard Blunck

Jacques Michaud

Jacek Majewski

Michael Shevell

Bernard Brais

Robert Koenekoop

Morris Scantlebury

John Vincent

Francois Bolduc

Ziv Gan-Or

Elana Pinchefsky

Guillaume Sebire

Rita Horvath