Reza Maroofian

Publications

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, Mohammadiasl J, Golchin N, Sedaghat A, Mehrjardi MYV, Haack TB, Riess O, Chung WK, Galehdari H, Shariati G, Maroofian R. Neurol Sci. 2018 Nov;39(11):1917-1925.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Am J Hum Genet. 2018 Sep 6;103(3):431-439.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V. Nat Commun. 2018 Aug 6;9(1):3087.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G. Orphanet J Rare Dis. 2018 May 31;13(1):86.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss. Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M. Hum Genet. 2018 Jul;137(6-7):479-486.

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Neurology. 2018 Jul 24;91(4):e319-e330.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B. Hum Mutat. 2018 Sep;39(9):1284-1298.

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family. Hofrichter MAH, Mojarad M, Doll J, Grimm C, Eslahi A, Hosseini NS, Rajati M, Müller T, Dittrich M, Maroofian R, Haaf T, Vona B. BMC Med Genet. 2018 May 18;19(1):81.

A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family. Maroofian R, Murdocca M, Rezaei-Delui H, Nekooei A, Mojarad M, Sangiuolo F, Novelli G, Superti-Furga A, D'Apice MR. Clin Dysmorphol. 2018 Jul;27(3):88-90.

Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity. Dehghani MR, Mehrjardi MYV, Dilaver N, Tajamolian M, Enayati S, Ebrahimi P, Amoli MM, Farooqi S, Maroofian R. Eur J Med Genet. 2018 Mar 12. pii: S1769-7212(17)30802-9.

Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy. Dilaver N, Mazaheri N, Maroofian R, Zeighami J, Seifi T, Zamani M, Sedaghat A, Shariati GR, Galehdari H. Mol Syndromol. 2017 Dec;9(1):25-29.

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. Vona B, Maroofian R, Mendiratta G, Croken M, Peng S, Ye X, Rezazadeh J, Bahena P, Lekszas C, Haaf T, Edelmann L, Shi L. Mol Syndromol. 2017 Dec;9(1):5-14.

Biallelic variants in KIF14 cause intellectual disability with microcephaly. Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE. Eur J Hum Genet. 2018 Mar;26(3):330-339.

An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. Humbatova A, Maroofian R, Romano MT, Tafazzoli A, Behnam M, Dilaver N, Nouri N, Salehi M, Wolf S, Frank J, Kokordelis P, Betz RC. Br J Dermatol. 2018 Apr;178(4):e265-e267.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Maroofian R, Riemersma M, Jae LT, Zhianabed N, Willemsen MH, Wissink-Lindhout WM, Willemsen MA, de Brouwer APM, Mehrjardi MYV, Ashrafi MR, Kusters B, Kleefstra T, Jamshidi Y, Nasseri M, Pfundt R, Brummelkamp TR, Abbaszadegan MR, Lefeber DJ, van Bokhoven H. Genome Med. 2017 Dec 22;9(1):118.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G. JAMA Neurol. 2018 Jan 1;75(1):105-113.

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. Karakaya M, Mazaheri N, Polat I, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bönnemann CG, Yis U, Wirth B. Brain. 2017 Oct 1;140(10):e65.

A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family. Vahidi Mehrjardi MY, Maroofian R, Kalantar SM, Jaafarinia M, Chilton J, Dehghani M. Mol Syndromol. 2017 Aug;8(5):261-265.

A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes. Abbasi F, Habibi M, Enayati S, Bitarafan F, Razzaghy-Azar M, Sotodeh A, Omran SP, Maroofian R, Amoli MM. Can J Diabetes. 2018 Jun;42(3):272-275.

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. Dehghani M, Mojarad M, Ghayoor Karimiani E, Vahidi Mehrjardi MY, Sahebalzamani A, Ashrafzadeh F, Beiraghi Toosi M, Eslahi A, Ahangari N, Yassini SM, Hassanbeigi A, Rasti A, Kalantar SM, Maroofian R. Public Health Genomics. 2017;20(3):188-193.

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy. Petropoulou E, Soltani M, Firoozabadi AD, Namayandeh SM, Crockford J, Maroofian R, Jamshidi Y. Eur J Med Genet. 2017 Sep;60(9):485-488.

Novel EYA1 variants causing Branchio-oto-renal syndrome. Klingbeil KD, Greenland CM, Arslan S, Llamos Paneque A, Gurkan H, Demir Ulusal S, Maroofian R, Carrera-Gonzalez A, Montufar-Armendariz S, Paredes R, Elcioglu N, Menendez I, Behnam M, Foster J 2nd, Guo S, Escarfuller S, Cengiz FB, Duman D, Bademci G, Tekin M. Int J Pediatr Otorhinolaryngol. 2017 Jul;98:59-63.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. Neuropediatrics. 2017 Jun;48(3):166-184.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Brain. 2017 Apr 1;140(4):940-952.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC. Am J Hum Genet. 2017 Mar 2;100(3):537-545.

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi MY, Chioza BA, Zamaninejad S, Kalantar SM, Nori-Shadkam M, Ghadimi H, Baple EL, Crosby AH, Dehghani M. Iran J Public Health. 2016 Oct;45(10):1359-1366.

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, Baple EL, Dehghani M, Crosby AH, Hofstra RM. Eur J Hum Genet. 2016 Nov;24(11):1627-1629.

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, Behnam M, Mojarrad M, Feng Y, Duman D, Mawla AM, Nord AS, Blanton SH, Liu XZ, Tekin M. Hum Genet. 2016 Aug;135(8):953-61.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Brain. 2015 Aug;138(Pt 8):2173-90.

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Baple EL*, Maroofian R*, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH. Am J Hum Genet. 2014 Jan 2;94(1):87-94. *Equal contribution

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH. Brain. 2013 Dec;136(Pt 12):3618-24.