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Items: 1 to 50 of 147

1.

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK.

Am J Med Genet A. 2020 Feb 7. doi: 10.1002/ajmg.a.61505. [Epub ahead of print]

PMID:
32031333
2.

Thirty-day postoperative morbidity in patients with breast cancer following neoadjuvant chemotherapy.

Srour MK, Lee M, Walcott-Sapp S, Kim S, Amersi F, Giuliano AE, Chung A.

Am J Surg. 2020 Jan 22. pii: S0002-9610(20)30035-0. doi: 10.1016/j.amjsurg.2020.01.024. [Epub ahead of print]

PMID:
32014294
3.

Developmental trajectory of oligodendrocyte progenitor cells in the human brain revealed by single cell RNA sequencing.

Perlman K, Couturier CP, Yaqubi M, Tanti A, Cui QL, Pernin F, Stratton JA, Ragoussis J, Healy L, Petrecca K, Dudley R, Srour M, Hall JA, Kennedy TE, Mechawar N, Antel JP.

Glia. 2020 Jan 20. doi: 10.1002/glia.23777. [Epub ahead of print]

PMID:
31958186
4.

Expression of the GBGT1 Gene and the Forssman Antigen in Red Blood Cells in a Palestinian Population.

Abusibaa WA, Srour MA, Moslemi AR, Svensson L, Jesus C, Mendes F, Hesse C.

Transfus Med Hemother. 2019 Dec;46(6):450-454. doi: 10.1159/000497288. Epub 2019 Mar 29.

5.

Response to Letter to the Editor: "18FDG-PET/CT Imaging in Breast Cancer Patients with Clinical Stage IIB or Higher".

Srour MK, Amersi F.

Ann Surg Oncol. 2020 Jan 6. doi: 10.1245/s10434-019-08194-x. [Epub ahead of print] No abstract available.

PMID:
31907750
6.

An unusual report of anti-N antibody presenting as ABO discrepancy in an old female patient in Palestine.

Samarah FH, Srour MA.

Asian J Transfus Sci. 2019 Jul-Dec;13(2):140-141. doi: 10.4103/ajts.AJTS_28_18. Epub 2019 Dec 3.

7.

Impact of the extent of pathologic complete response on outcomes after neoadjuvant chemotherapy.

Lee MK, Srour MK, Walcott-Sapp S, Cook-Wiens G, Amersi F, Giuliano AE, Chung A.

J Surg Oncol. 2019 Nov 27. doi: 10.1002/jso.25787. [Epub ahead of print]

PMID:
31777089
8.

Management of adults and children undergoing chimeric antigen receptor T-cell therapy: best practice recommendations of the European Society for Blood and Marrow Transplantation (EBMT) and the Joint Accreditation Committee of ISCT and EBMT (JACIE).

Yakoub-Agha I, Chabannon C, Bader P, Basak GW, Bonig H, Ciceri F, Corbacioglu S, Duarte RF, Einsele H, Hudecek M, Kersten MJ, Köhl U, Kuball J, Mielke S, Mohty M, Murray J, Nagler A, Robinson S, Saccardi R, Sanchez-Guijo F, Snowden JA, Srour M, Styczynski J, Urbano-Ispizua A, Hayden PJ, Kröger N.

Haematologica. 2020 Jan 31;105(2):297-316. doi: 10.3324/haematol.2019.229781. Print 2020.

9.

Subretinal pigment epithelium fibrotic tissue morphological changes after a single anti-vascular endothelial growth factor injection in age-related macular degeneration.

Ohayon A, De Rosa I, Semoun O, Jung C, Colantuono D, El Ameen A, Srour M, Souied EH.

Br J Ophthalmol. 2019 Nov 19. pii: bjophthalmol-2019-314923. doi: 10.1136/bjophthalmol-2019-314923. [Epub ahead of print]

PMID:
31744799
10.

Daratumumab is effective in the relapsed or refractory systemic light-chain amyloidosis but associated with high infection burden in a frail real-life population.

Van de Wyngaert Z, Carpentier B, Pascal L, Lionne-Huyghe P, Leduc I, Srour M, Vasseur M, Demarquette H, Terriou L, Herbaux C, Manier S, Bossard JB, Barbieux S, Chauvet P, Willaume A, Nudel M, Bories C, Gibier JB, Facon T, Boyle EM.

Br J Haematol. 2020 Feb;188(3):e24-e27. doi: 10.1111/bjh.16282. Epub 2019 Nov 19. No abstract available.

PMID:
31742668
11.

Gene expression comparison between primary triple-negative breast cancer and paired axillary and sentinel lymph node metastasis.

Srour MK, Gao B, Dadmanesh F, Carlson K, Qu Y, Deng N, Cui X, Giuliano AE.

Breast J. 2019 Nov 11. doi: 10.1111/tbj.13684. [Epub ahead of print]

PMID:
31713298
12.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IMAGING OF CHOROIDAL NEOVASCULARIZATION SECONDARY TO CHOROIDAL RUPTURE TREATED BY INTRAVITREAL RANIBIZUMAB.

Benillouche J, Astroz P, Ohayon A, Srour M, Amoroso F, Pedinielli A, Mouallem A, Souied EH.

Retin Cases Brief Rep. 2019 Oct 24. doi: 10.1097/ICB.0000000000000932. [Epub ahead of print]

PMID:
31652192
13.

The concurrent administration of imatinib with extracorporeal photopheresis leads to complete and durable responses in patients with refractory sclerotic type chronic graft-versus-host disease.

Alsuliman T, Magro L, Coiteux V, Gauthier J, Srour M, Lionet A, Beauvais D, Yakoub-Agha I.

Curr Res Transl Med. 2019 Oct 17. pii: S2452-3186(19)30041-8. doi: 10.1016/j.retram.2019.10.001. [Epub ahead of print]

PMID:
31631014
14.

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

Accogli A, St-Onge J, Addour-Boudrahem N, Lafond-Lapalme J, Laporte AD, Rouleau GA, Rivière JB, Srour M.

J Child Neurol. 2020 Feb;35(2):106-110. doi: 10.1177/0883073819878917. Epub 2019 Oct 16.

PMID:
31617442
15.

[How to capture cytogenetic and molecular abnormalities into ProMISe database for hematological malignancies: Guidelines from the francophone society of bone marrow transplantation and cellular therapy (SFGM-TC)].

Raus N, Karam M, Chebel R, Dantin C, Pereira M, Wallart A, Yakoub-Agha I, Srour M.

Bull Cancer. 2020 Jan;107(1S):S52-S61. doi: 10.1016/j.bulcan.2019.07.007. Epub 2019 Oct 12. French.

PMID:
31615645
16.

Utilization of BioZorb implantable device in breast-conserving surgery.

Srour MK, Chung A.

Breast J. 2019 Oct 8. doi: 10.1111/tbj.13657. [Epub ahead of print]

PMID:
31595588
17.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M.

Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.

PMID:
31585109
18.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.

Genet Med. 2019 Oct 3. doi: 10.1038/s41436-019-0657-0. [Epub ahead of print]

PMID:
31578471
19.

Flat epithelial atypia on core needle biopsy does not always mandate excisional biopsy.

Srour MK, Donovan C, Chung A, Harit A, Dadmanesh F, Giuliano AE, Amersi F.

Breast J. 2019 Sep 28. doi: 10.1111/tbj.13507. [Epub ahead of print]

PMID:
31562689
20.

Comparison of wire localization, radioactive seed, and Savi scout® radar for management of surgical breast disease.

Srour MK, Kim S, Amersi F, Giuliano AE, Chung A.

Breast J. 2019 Aug 25. doi: 10.1111/tbj.13499. [Epub ahead of print]

PMID:
31448530
21.

Impact of Resident and Fellow Participation on Surgical Outcomes in Breast Conserving Surgery for Invasive Breast Cancer.

Srour MK, Manguso N, Mirocha J, Chung A, Giuliano AE, Amersi F.

J Surg Educ. 2020 Jan - Feb;77(1):144-149. doi: 10.1016/j.jsurg.2019.07.014. Epub 2019 Aug 1.

PMID:
31377203
22.

Overuse of Preoperative Staging of Patients Undergoing Neoadjuvant Chemotherapy for Breast Cancer.

Srour MK, Lee M, Walcott-Sapp S, Luu M, Chung A, Giuliano AE, Amersi F.

Ann Surg Oncol. 2019 Oct;26(10):3289-3294. doi: 10.1245/s10434-019-07543-0. Epub 2019 Jul 24.

PMID:
31342365
23.

Patterns in the Use of Axillary Operations for Patients with Node-Positive Breast Cancer After Neoadjuvant Chemotherapy: A National Cancer Database (NCDB) Analysis.

Srour MK, Tseng J, Luu M, Alban RF, Giuliano AE, Chung A.

Ann Surg Oncol. 2019 Oct;26(10):3305-3311. doi: 10.1245/s10434-019-07540-3. Epub 2019 Jul 24.

PMID:
31342364
24.

Approche diagnostique et thérapeutique de la vasculopathie polypoïdale choroïdienne. Recommandations de la Fédération France Macula.

Srour M, Sayag D, Nghiem-Buffet S, Arndt C, Creuzot-Garcher C, Souied E, Mauget-Faÿsse M.

J Fr Ophtalmol. 2019 Sep;42(7):762-777. doi: 10.1016/j.jfo.2019.05.002. Epub 2019 Jun 4. Review. French.

PMID:
31174880
25.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

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.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

26.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M.

Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28.

PMID:
30924036
27.

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

Faraon R, Daraghmah M, Samarah F, Srour MA.

BMC Hematol. 2019 Feb 18;19:4. doi: 10.1186/s12878-019-0135-6. eCollection 2019.

28.

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.

Uccella S, Accogli A, Tortora D, Mancardi MM, Nobili L, Berloco B, Morana G, Striano P, Capra V, Srour M, Saint-Martine C, Rossi A, Severino M.

J Neurol. 2019 May;266(5):1167-1181. doi: 10.1007/s00415-019-09247-7. Epub 2019 Feb 22.

PMID:
30796522
29.

Scalable remote homology detection and fold recognition in massive protein networks.

Petegrosso R, Li Z, Srour MA, Saad Y, Zhang W, Kuang R.

Proteins. 2019 Jun;87(6):478-491. doi: 10.1002/prot.25669. Epub 2019 Feb 22.

PMID:
30714638
30.

Prevalence of Anemia and Iron Deficiency among Palestinian Pregnant Women and Its Association with Pregnancy Outcome.

Srour MA, Aqel SS, Srour KM, Younis KR, Samarah F.

Anemia. 2018 Dec 24;2018:9135625. doi: 10.1155/2018/9135625. eCollection 2018.

31.

Neural function in DCC mutation carriers with and without mirror movements.

Vosberg DE, Beaulé V, Torres-Berrío A, Cooke D, Chalupa A, Jaworska N, Cox SML, Larcher K, Zhang Y, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Tampieri D, La Piana R, Joober R, Lepore F, Rouleau G, Pascual-Leone A, Fox MD, Flores C, Leyton M, Théoret H.

Ann Neurol. 2019 Mar;85(3):433-442. doi: 10.1002/ana.25418. Epub 2019 Feb 4.

32.

Diagnostic Yield of Intellectual Disability Gene Panels.

Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M.

Pediatr Neurol. 2019 Mar;92:32-36. doi: 10.1016/j.pediatrneurol.2018.11.005. Epub 2018 Nov 22.

PMID:
30581057
33.

Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency.

Myers KA, Dudley RW, Srour M.

Epileptic Disord. 2018 Dec 1;20(6):545-550. doi: 10.1684/epd.2018.1017.

34.

Advanced proliferative diabetic retinopathy during pregnancy.

Capuano V, Srour M, Miere A, Guenoun S, Astroz P, Semoun O, Souied EH, Querques G.

J Fr Ophtalmol. 2018 Dec;41(10):e485-e487. doi: 10.1016/j.jfo.2018.03.019. Epub 2018 Nov 12. No abstract available.

PMID:
30442488
35.

Developmental outcomes in children with congenital cerebellar malformations.

Pinchefsky EF, Accogli A, Shevell MI, Saint-Martin C, Srour M.

Dev Med Child Neurol. 2019 Mar;61(3):350-358. doi: 10.1111/dmcn.14059. Epub 2018 Oct 15.

PMID:
30320441
36.

Optical coherence tomography angiography features of choroidal neovascularization secondary to angioid streaks.

Chapron T, Mimoun G, Miere A, Srour M, El Ameen A, Semoun O, Souied EH.

Eye (Lond). 2019 Mar;33(3):385-391. doi: 10.1038/s41433-018-0213-1. Epub 2018 Sep 24.

PMID:
30250237
37.

Appearance of macular edema during pregnancy due to retinal arteriovenous malformation.

Capuano V, Oliverio L, Amoroso F, Srour M, Souied EH, Querques G.

J Fr Ophtalmol. 2018 Oct;41(8):e383-e385. doi: 10.1016/j.jfo.2017.11.038. Epub 2018 Aug 29. No abstract available.

PMID:
30172380
38.

Firearm legislation, gun violence, and mortality in children and young adults: A retrospective cohort study of 27,566 children in the USA.

Tseng J, Nuño M, Lewis AV, Srour M, Margulies DR, Alban RF.

Int J Surg. 2018 Sep;57:30-34. doi: 10.1016/j.ijsu.2018.07.010. Epub 2018 Jul 30.

PMID:
30071359
39.

Frequency of Red Blood Cell Alloimmunization in Patients with Sickle Cell Disease in Palestine.

Samarah F, Srour MA, Yaseen D, Dumaidi K.

Adv Hematol. 2018 Jun 6;2018:5356245. doi: 10.1155/2018/5356245. eCollection 2018.

40.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G.

Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9.

PMID:
29859719
41.

Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis.

Accogli A, Srour M.

Neurology. 2018 May 15;90(20):e1832-e1833. doi: 10.1212/WNL.0000000000005531. No abstract available.

PMID:
29760006
42.

Mesocorticolimbic Connectivity and Volumetric Alterations in DCC Mutation Carriers.

Vosberg DE, Zhang Y, Menegaux A, Chalupa A, Manitt C, Zehntner S, Eng C, DeDuck K, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Joober R, Lepore F, Rouleau G, Théoret H, Bedell BJ, Flores C, Leyton M.

J Neurosci. 2018 May 16;38(20):4655-4665. doi: 10.1523/JNEUROSCI.3251-17.2018. Epub 2018 Apr 30.

43.

Acute Hemorrhagic Encephalitis Responding to Combined Decompressive Craniectomy, Intravenous Immunoglobulin, and Corticosteroid Therapies: Association with Novel RANBP2 Variant.

Alawadhi A, Saint-Martin C, Bhanji F, Srour M, Atkinson J, Sébire G.

Front Neurol. 2018 Mar 12;9:130. doi: 10.3389/fneur.2018.00130. eCollection 2018.

44.

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M.

Am J Med Genet A. 2018 Apr;176(4):985-991. doi: 10.1002/ajmg.a.38628. Epub 2018 Feb 12.

PMID:
29430868
45.

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

da Silva RV, Johannssen HC, Wyss MT, Roome RB, Bourojeni FB, Stifani N, Marsh APL, Ryan MM, Lockhart PJ, Leventer RJ, Richards LJ, Rosenblatt B, Srour M, Weber B, Zeilhofer HU, Kania A.

Cell Rep. 2018 Jan 30;22(5):1105-1114. doi: 10.1016/j.celrep.2018.01.004.

46.

Factor V Leiden G1691A and prothrombin G20210A mutations among Palestinian patients with sickle cell disease.

Samarah F, Srour MA.

BMC Hematol. 2018 Jan 16;18:1. doi: 10.1186/s12878-018-0097-0. eCollection 2018.

47.

[Erratum to "Prise en charge de la DMLA exsudative en France en 2015" [J. Fr. Ophtalmol. 40 (9) (2017) 723-30]].

Zerbib J, Bourhis A, Cornut PL, De Bats F, Grenet T, Gualino V, Halfon J, Massé H, Srour M, Streho M, Tick S, Wolff B, San Nicolas N.

J Fr Ophtalmol. 2018 Jan;41(1):107. doi: 10.1016/j.jfo.2017.11.001. Epub 2017 Dec 27. French. No abstract available.

PMID:
29289352
48.

Distal 22q11.2 Microduplication: Case Report and Review of the Literature.

Pinchefsky E, Laneuville L, Srour M.

Child Neurol Open. 2017 Nov 1;4:2329048X17737651. doi: 10.1177/2329048X17737651. eCollection 2017 Jan-Dec.

49.

Milk products in the dietary management of childhood undernutrition - a historical review.

Scherbaum V, Srour ML.

Nutr Res Rev. 2018 Jun;31(1):71-84. doi: 10.1017/S0954422417000208. Epub 2017 Nov 8. Review.

PMID:
29113618
50.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

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