Clinica Sant'Anna

Dr. med. Alessandra Ferrarini

Specialista in pediatria e specialista in genetica medica, membro FMH
Consulente Medisyn Svizzera
Docente presso la facoltà di medicina USI Lugano 

Lingue
IT FR EN
Area di competenza (2)
Ulteriori accreditamenti (2)
  • Medicentro Sant'Anna
  • Medicentro Pediatrico

Contatto

Studio (1)

Medicentro Pediatrico
Villa Anna 2
Via Sant'Anna 7
6924 Sorengo

Esperienze professionali

dal 2024

Medico pediatra e genetista clinico indipendente, presso Clinica Sant’Anna, Sorengo e consulente presso Medisyn, Svizzera

dal 2022

Accreditamento presso Swiss Medical Network

dal 2021

Docente presso Università della Svizzera Italiana (USI)

2020 - 2024

Medico pediatra e genetista clinico indipendente, presso Centro Medico, Stazione, Lugano

2019 - 2022

Medico Caposervizio, Responsabile del Servizio di Genetica Medica presso Ospedale Italiano di Lugano (IOSI-OIL)

2013 - 2018

Medico Capoclinica e quindi Caposervizio del Servizio di Pediatria (IPSI) Ospedale San Giovanni Bellinzona

Appartenenze

dal 2012

Titolo FMH Genetica medica

dal 2011

Titolo FMH in Pediatria

Pubblicazioni

BIBLIOGRAFIA (riviste scientifiche con revisione paritaria)

Fattore di Hirsch: 10 (ISI; 8 giugno 2020)

 

• ARTICOLI ORGINALI (E REVIEWS SISTEMATICHE)

  1. Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marangi G, Zampino G, Garavelli L, Ferrarini A, Rocchi M, Opitz JM, Neri G. A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. Eur J Hum Genet 2004;12:797-804.
  2. Bartoli F, Martinez JM, Ferrarini A, Recaldini E, Bianchetti MG. Poor adherence to the prophylactic use of vitamin D3 in Switzerland. J Pediatr Endocrinol Metab 2006;19:281-282.
  3. Robbiani JH, Simonetti G, Crosazzo L, Ferrarini A, Pronzini F, Bianchetti MG. False positive dipstick for urinary blood in childhood. J Nephrol 2006;19:605-606.
  4. Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF.nFourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 2009;52:94-100.
  5. Ferrarini A, Osterheld MC, Vial Y, de Viragh PA, Cotting J, Martinet D, Beckmann JS, Fellmann F. Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome? Am J Med Genet A 2009;149A:2661-2665.
  6. Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010;463:671-675.
  7. Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011; 478: 97-102.
  8. Ferrarini A, Auteri-Kaczmarek A, Pica A, Boesch N, Heinimann K, Schafer SC, Vesnaver-Megalo S, Cina V, Beckmann JS, Monnerat C. Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53. Fam Cancer 2011; 10: 187-192.
  9. Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, Meli D, Aravena T, Doray B, Ferrarini A, Garavelli L, Selicorni A, Larizza L. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Am J Med Genet A 2013; 161A: 2909-2919.
  10. Lava SAG, Simonetti GD, Ferrarini A, Ramelli GP, Bianchetti MG. Regional differences in symptomatic fever management among pediatricians in Switzerland: The results of a cross-sectional Web-based survey. Br J Clin Pharmacol 2013; 75: 236-243.
  11. Ferrarini A, Lava SAG, Simonetti GD, Ramelli GP, Bianchetti MG; on behalf of the Swiss Italian Society of Pediatrics. Influenzavirus B-associated acute benign myalgia cruris: An outbreak report and review of the literature. Neuromuscul Disord 2014;24:342–346.
  12. Uestuener P, Ferrarini A, Santi M, Mardegan C, Bianchetti MG, Simonetti GD, Milani GP, Lava SAG. Taste acceptability of pulverized brand-name and generic drugs containing amlodipine or candesartan. Int J Pharm 2014;468:196-198.
  13. Siegenthaler GM, Rizzi M, Bettinelli A, Simonetti GD, Ferrarini A, Bianchetti MG. Ureteral or vesical involvement in Henoch-Schönlein syndrome: a systematic review of the literature. Pediatr Nephrol 2014; 29: 235-239.
  14. Ostini A, Ramelli GP, Mainetti C, Bianchetti MG, Ferrarini A. Recurrent Finkelstein-Seidlmayer disease in four first-degree relatives. Acta Derm Venereol 2015;28:622-623.
  15. Jackson CB, Bauer MF, Schaller A, Kotzaeridou U, Ferrarini A, Hahn D, Chehade H, Barbey F, Tran C, Gallati S, Haeberli A, Eggimann S, Bonafé L, Nuoffer JM. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. Eur J Pediatr 2016;175:517-525.
  16. Capoferri G, Milani GP, Ramelli GP, Ferrarini A, Bianchetti MG. Sporadic acute benign calf myositis: Systematic literature review. Neuromuscul Disord 2018;28:443-449.
  17. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental Ddisorders and epilepsy. Am J Hum Genet 2019;104:1210-1222.
  18. Ferrarini A, Benetti C, Camozzi P, Ostini A, Simonetti GD, Milani GP, Bianchetti MG, Lava SA. Acute hemorrhagic edema of young children: a prospective case series. Eur J Pediatr 2016;175:557-561.
  19. Ostini A, Simonetti GD, Pellanda G, Bianchetti MG, Ferrarini A, Milani GP. Familial Henoch-Schönlein syndrome. J Clin Rheumatol 2016;22:80-81.
  20. Bronz G, Gabriel H, Lava SAG, Ramelli GP, Luedeke M, Biskup S, Mainetti C, Ferrarini A. Whole exome sequencing revealed a candidate gene for Finkelstein-Seidlmayer disease. Am J Pediatr 2019;5:196-199.
  21. Rinoldi PO, Milani GP, Bianchetti MG, Ferrarini A, Ramelli GP, Lava SAG. Acute hemorrhagic edema of young children: open questions and perspectives. Int J Dermatol Skin Care 2019;1:63-67.
  22. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019;104(6):1210-1222.
  23. Pellanda F, Lava SAG, Milani GP, Bianchetti MG, Ferrarini A, Vanoni F. Immune deposits in skin vessels of patients with acute hemorrhagic edema of young children: a systematic literature review. Pediatr Dermatol 2020;37:120-123.
  24. Malhotra A, Ferrarini A et al. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dsymorphic features. J Med Genet 2020.
  25. Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Curro’ A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaer B, Mueller S, Rameli GP, Armstrong J, Renieri A, Mari F. IQSEC2 disorder: a new entity or a Rett spectrum continuum? Clin Genet 2021;99(3):462-474.
  26. Betti C, Camozzi P, Gennaro V, Bianchetti MG, Scoglio M, Simonetti GD, Milani GP, Lava SAG, Ferrarini A. Atypical bacterial pathogens and small-vessel leukocytoclastic vasculitis of the skin in children: systematic literature review. Pathogens 2021;10(1):31-.

 

• REVIEWS NARRATIVE

  1. Santoro L, Ferrarini A, Crosazzo L, Bianchetti MG. Primary vesicoureteric reflux and reflux nephropathy – new insights. Curr Pediatr Rev 2006;2:173-176.
  2. Simonetti GD, Santoro L, Ferrarini A, Crosazzo-Franscini L, Fossali E, Bianchetti MG. Systemic hypertension and proteinuria in childhood chronic renal parenchymal disease. Role of antihypertensive drug management. Paediatr Drugs 2007;9:413-418.
  3. Bucher BS, Ferrarini A, Weber N, Bullo M, Bianchetti MG, Simonetti GD. Primary hypertension in childhood. Curr Hypertens Report 2013;15:444-452.
  4. Ferrarini A, Jacquemont S, Beck Popovic M, Bonafé L, Martinet D. Puce à ADN: pourqoui et pour qui. Rev Med Suisse 2010;237:390-396.
  5. Lava SAG, Simonetti GD, Bianchetti AA, Ferrarini A, Bianchetti MG. Prevention of vitamin D insufficiency in Switzerland: A never-ending story. Int J Pharm 2013;457:353-356.
  6. Ferrarini A, Bianchetti AA, Fossali EF, Faré PB, Simonetti GD, Lava SAG, Bianchetti MG. What can we do to make antihypertensive medications taste better for children? Int J Pharm 2013;457:333-336.

 

• LETTERS – CASE REPORT

  1. Ferrarini A, Selicorni A, Cagnoli G, Zollino M, Lecce R, Chines C, Battaglia A. Distinct facial dysmorphism, pre and postnatal growth retardation, microcephaly, seizures, mental retardation and hypotonia. Ital J Pediatr 2003;29:393-397.
  2. Selicorni A, Ferrarini A, Cagnoli G, Fratoni A, Bottigelli M, Milani D. Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis Am J Med Genet 2005;132A:189-190.
  3. Ferrarini A, Bottigelli M, Milani D, Cagnoli G, Selicorni A. Two new cases of Barraquer-Simons syndrome. Am J Med Gen 2004;126A:427-429.
  4. Ferrarini A, Baggi M, Flückiger R, Bianchetti MG. Intraoperative anaphylaxis to a chlorhexidine polymer in chidhood. Paediatr Anaesth 2006;16:705.
  5. Baldassarre E, Mendoza Sagaon M, Ferrarini A, Bianchetti MG. Severe systemic adverse reaction to proton pump inhibitors in an infant. Pediatr Pulmonol 2007;42:563-564.
  6. Ferrarini A, Blumberg D, Cortesi C, Bianchetti MG. Henoch-Schönlein syndrome and pertussis. Pediatr Infect Dis J 2007;26:661.
  7. Ramelli GP, Silacci C, Ferrarini A, Cattaneo C, Visconti P, Pescia G. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. Dev Med Child Neurol 2008;50:953-955.
  8. Ferrarini A, Ramelli GP, Bianchetti MG, Hedman J, Sharathkumar A, Shapiro A, Bourland C. Index of suspicion. Pediatr Rev 2009;30:479-485.
  9. Capobianco S, Lava SA, Bianchetti MG, Martinet D, Belfiore M, Ramelli GP, Ferrarini A. Chromosomal microarray among children with intellectual disability: a useful diagnostic tool for the clinical geneticist. Dev Med Child Neurol 2014;56:290.
  10. Ferrarini A, Gaillard M, Guerry F, Ramelli GP, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D. Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. Am J Med Genet A. 2014;164:346-352.
  11. Pellanda G, Lava SA, Ferrarini A, Ramelli GP. High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders. Eur J Paediatr Neurol 2015;19:387-387.
  12. Ferrarini A, Milani GP, Bianchetti MG, Lava SAG. Acute hemorragic edema of infancy associated with Coxsackie virus infection. Arch Pédiatr 2018;25:244.

Bronz G, Leoni-Foglia C, Lava SG, Simonetti GD, Ferrarini A. Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy. Clin Dysmorphol 2020;29:53-60.

Formazione

2013

Medico aiuto residente, Servizio di genetica medica, ospedale Necker-Enfants Malades (Parigi, Francia); attività presso gli ambulatori specializzati in dismorfologia, malattie genetiche dello scheletro, malattie neurogenetiche e mitocondriali; responsabile Prof Dr. med. A. Münnich

2011 - 2013

Medico capoclinica, Servizio integrato ospedali di Mendrisio e Bellinzona (Svizzera); responsabili Prof Dr. med. M. G. Bianchetti e Prof. Dr. med. G.P. Ramelli Medico capoclinica, Servizio integrato ospedali di Mendrisio e Bellinzona (Svizzera); responsabili Prof Dr. med. M. G. Bianchetti e Prof. Dr. med. G.P. Ramelli.

2009 - 2011

Medico assistente, Servizio di pediatria, CHUV-Losanna (Svizzera); responsabile Prof. Dr. med. S. Fanconi

2007 - 2009

Medico assistente, Servizio di genetica medica, CHUV-Losanna (Svizzera); responsabile Prof. Dr. med. J. Beckmann.

2004 - 2007

Medico assistente, Servizio integrato di pediatria, ospedali di Mendrisio e Bellinzona (Svizzera); responsabili Prof. Dr. med. M.G. Bianchetti e Prof. Dr. med. G.P. Ramelli

2003 - 2004

Medico borsista, Dipartimento di pediatria, servizio di genetica medica, Clinica Universitaria Pediatrica “G. e D. De Marchi”, Milano (Italia), responsabile Dr. med. A. Selicorni

2001 - 2003

Medico borsista, Dipartimento di pediatria, servizio di oncologia pediatrica, Clinica Universitaria Pediatrica “G. e D. De Marchi”, Milano (Italia), responsabile Prof. Dr. med. V. Carnelli

1996 - 2001

Università degli Studi di Milano (Italia), Facoltà di Medicina e Chirurgia.
Diploma di medico-chirurgo. Titolo della tesi: "Terapia con interferone degli angiomi in età pediatrica"

Profilo

BORSE DI STUDIO - SPONSORIZZAZIONI

2003–2004: Borsa di studio contribuita da associazioni di genitori con bambini affetti da malattia rara (Associazione Nazionale di Volontariato Cornelia de Lange; Associazione Italiana Sindrome di Wolf-Hirschhorn) per attività di ricerca e assistenza.

2004: Borsa di studio contribuita dall’associazione AIDWEB.org–ONLUS, per la collaborazione nella creazione del sito web AIDWEB per le malattie rare.

2013: Borsa di studio contribuita da Telethon Suisse, per una collaborazione clinica col Servizio di genetica medica dell’ospedale Necker-Enfants Malades (Parigi, Francia).

1.11.2012: Creazione del Fondo Malattie Rare Pediatriche a scopo diagnostico e di ricerca nel campo delle malattie rare dei bambini (sovvenzionato dalla Fondazione Kiwanis Lugano per il primo anno di attività).

 

SUPERVSIONE DI TESI DI MASTER PER L’OTTENIMENTO DELLA LAUREA IN MEDICINA

1. Ilaria Parenti (Università degli Studi di Milano, 2016)

2. Sabrina Mueller (università di Basilea, 2017)

3. Giogia Pellanda (Università di Basilea, 2017)

4. Luca Jermini (Università di Basilea, 2018)

5. Gabriel Bronz (Università di Berna, 2018)

 

ATTIVITÀ DI REVIEWER PER RIVISTE SCIENTIFICHE

European Journal of Pediatrics - Human Genetics - The Journal of Pediatrics

 

PARTECIPAZIONE A CONSORZI DI RICERCA INTERNAZIONALI

1. Consortium 16p11.2:

- 16p11.2 Locus modulates response to satiety before the onset of obestity. Int J Obes 2016 40:870-876.

- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry 2016; 22:836-849.

- Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. JAMA Psychiatry 2016; 73:20-30.

2. Consortium 15q11.2:

- Estimating the effect size of the 15q11.2 BP1-BP3 deletion and its contribution to neurodevelopmental symtoms: recommendation for practise. J Med Genet 2019; 56:701-710.

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