Hind Al Saif, MD
Associate Professor
Pediatrics
School of Medicine

Education & Training

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• Medical Biochemical Genetics Fellowship National Institutes of Health 2016
• Clinical Genetics Residency National Institutes of Health/Johns Hopkins Consortium 2015
• Pediatric Residency Children’s National Health 2013

Publications (13)

Top publication keywords:
Optic AtrophyPallorAmyotrophic Lateral SclerosisNeurodevelopmental DisordersApraxiasEpilepsyIntellectual DisabilitySerine C-PalmitoyltransferaseGenetic Diseases, X-LinkedHereditary Sensory and Motor NeuropathyHypotrichosisAneuploidyAbnormalities, MultipleAstigmatismChromosomes, Human, Pair 18

• Co-occurring Usher syndrome Type 1 and Renal Failure.
  Retinal cases & brief reports 2024 Le H, Anderson H, Lopez G, Bayer-Vile J, Al-Saif H, Couser N
• De novo variants in DENND5B cause a neurodevelopmental disorder.
  American journal of human genetics 2024 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, …
• Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
  medRxiv : the preprint server for health sciences 2024 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,…
• A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.
  Journal of pediatric ophthalmology and strabismus 2022 Lam K, Cassidy B, Arreola R, Al Saif H, King K, Couser NL
• Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
  Ophthalmic genetics 2022 Babu K, Seamon K, Jewell A, Harrison A, Harper A, Al Saif H, Couser N

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• Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
  Ophthalmic genetics 2022 Simmers R, Goodwin A, Al Saif H, Couser N
• Ophthalmic abnormalities in Wieacker-Wolff syndrome.
  Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2022 Comlekoglu T, Kumar V, King K, Al Saif H, Li R, Couser N
• Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
  Journal of pediatric ophthalmology and strabismus 2021 Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL
• Eye and ocular adnexa manifestations of MED12-related disorders.
  Ophthalmic genetics 2021 Shah A, Bapna M, Al-Saif H, Li R, Couser NL
• Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
  JAMA neurology 2021 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, …
• Ocular Manifestations of the NAA10-Related Syndrome.
  Case reports in genetics 2019 Gupta AS, Saif HA, Lent JM, Couser NL
• A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American.
  Frontiers in neurology 2018 Dougherty SC, Harper A, Al Saif H, Vorona G, Haines SR
• A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.
  Case reports in ophthalmological medicine 2018 Sahni DR, Wallace M, Kanhere M, Al Saif H, Couser N