Hind Al Saif, MD

Title(s)Associate Professor, Pediatrics
SchoolSchool of Medicine
Address600 16th Street
San Francisco CA 94158
PronounsShe/Her/Hers
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    Collapse Biography 
    Collapse Education and Training
    Children’s National Health2013Pediatric Residency
    National Institutes of Health/Johns Hopkins Consortium 2015Clinical Genetics Residency
    National Institutes of Health 2016Medical Biochemical Genetics Fellowship

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Co-occurring Usher syndrome Type 1 and Renal Failure. Retin Cases Brief Rep. 2024 Mar 08. Le H, Anderson H, Lopez G, Bayer-Vile J, Al-Saif H, Couser N. PMID: 38470933.
      View in: PubMed   Mentions:    Fields:    
    2. De novo variants in DENND5B cause a neurodevelopmental disorder. Am J Hum Genet. 2024 03 07; 111(3):529-543. Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, Undiagnosed Diseases Network, Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. PMID: 38387458; PMCID: PMC10940048.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv. 2024 Jan 26. Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedlácek Z, Hancárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bie I, Wegler M, Jamra RA, Kamphausen SB, Bothe V, Busch LM, Völker U, Hammer E, Wende K, Cogné B, Isidor B, Meiler J, Bosc-Rosati A, Marcoux J, Bousquet MP, Poschmann J, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Droit A, Elgersma Y, Grabrucker AM, Bolduc FV, Bézieau S, Ebstein F, Krüger E. PMID: 38293138; PMCID: PMC10827246.
      View in: PubMed   Mentions:
    4. A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome. J Pediatr Ophthalmol Strabismus. 2023 Jul-Aug; 60(4):295-301. Lam K, Cassidy B, Arreola R, Al Saif H, King K, Couser NL. PMID: 36263936.
      View in: PubMed   Mentions: 1     Fields:    
    5. Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review. Ophthalmic Genet. 2023 08; 44(4):379-384. Babu K, Seamon K, Jewell A, Harrison A, Harper A, Al Saif H, Couser N. PMID: 36098092.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome. Ophthalmic Genet. 2022 10; 43(5):699-702. Simmers R, Goodwin A, Al Saif H, Couser N. PMID: 35762114.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    7. Ophthalmic abnormalities in Wieacker-Wolff syndrome. J AAPOS. 2022 04; 26(2):91-93. Comlekoglu T, Kumar V, King K, Al Saif H, Li R, Couser N. PMID: 35121145.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p. J Pediatr Ophthalmol Strabismus. 2021 Nov-Dec; 58(6):e44-e48. Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL. PMID: 34851787.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    9. Eye and ocular adnexa manifestations of MED12-related disorders. Ophthalmic Genet. 2022 02; 43(1):126-129. Shah A, Bapna M, Al-Saif H, Li R, Couser NL. PMID: 34670449.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol. 2021 10 01; 78(10):1236-1248. Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALS, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E. PMID: 34459874; PMCID: PMC8406220.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    11. Ocular Manifestations of the NAA10-Related Syndrome. Case Rep Genet. 2019; 2019:8492965. Gupta AS, Saif HA, Lent JM, Couser NL. PMID: 31093388; PMCID: PMC6476065.
      View in: PubMed   Mentions: 5  
    12. A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American. Front Neurol. 2018; 9:956. Dougherty SC, Harper A, Al Saif H, Vorona G, Haines SR. PMID: 30498468; PMCID: PMC6249318.
      View in: PubMed   Mentions: 4  
    13. A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations. Case Rep Ophthalmol Med. 2018; 2018:5969157. Sahni DR, Wallace M, Kanhere M, Al Saif H, Couser N. PMID: 30050712; PMCID: PMC6046149.
      View in: PubMed   Mentions: 2  
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